StemCell Therapy

Naomi Davis is an amazing example of the power of philanthropy.

Davis, a senior major in music therapy at Colorado State University, will graduate in May with very little debt. Thats because her hard work and talent mixed in with some generosity from CSU supporters have provided enough scholarship assistance to pay for most of her degree (shes also minoring in business).

I have been able to pay for almost all of my college with scholarships, the gifted student and passionate learner said. Im so thankful to the generous people who provide those scholarships. They have definitely eased my way and helped me focus on my studies.

Davis is a remarkably talented musician she plays 12 instruments, from piano and guitar to trombone and bassoon who knew in high school in Colorado Springs that she wanted to harness the power of music to heal. She looked at several universities with music therapy programs before determining that CSU was the best place to pursue her passion.

In addition to her classes, Davis has benefited from undergraduate research opportunities at CSU when she got to see her education in action at a Fort Collins health facility. Shell do a clinical internship in Annapolis, Maryland, after graduation.

We got to see what a difference music therapy makes in patients, she said. Thats really powerful.

While scholarships she has several merit-based scholarships, and her participation in the CSU Marching Band provided even more assistance have paid for a significant portion of her schooling, Davis has also worked two on-campus jobs. During the day you might see her leading a campus tour for the Office of Admissions, while at night she works in the Call-a-Ram program for University Advancement.

Davis story serves as a reminder of why the 2020 CSU Day of Giving, set for March 12-13, is so important. This day actually stretches for 1,870 minutes a tribute to the year CSU was founded and gives faculty, staff, students, alumni and friends a chance to support the university they love.

You can support any number of causes, from programs in your favorite college, to providing meals for hungry students through Rams Against Hunger, to helping preserve the majestic elm trees on the historic CSU Oval. There are scholarship funds, funds to boost professional development, the Martin Luther King, Jr. Graduate Scholarship Endowment, and even a fund to help care for CAM the Ram.

If 1,500 people donate, a donation of $160,000 from an anonymous alumnus will be added to total money raised. Last year, nearly 2,000 donors contributed almost $300,000.

Davis certainly understands the power of giving.

A lot of people are under the impression that they have to give a lot of money to make an impact, but thats just not true. Even the smallest gift makes a difference, she said. Just think about it if everyone associated with CSU gave $10, that would add up to millions. And think of the good that money could do.

Even if you cant donate, everyone is encouraged to tell their CSU story by posting your favorite memory using #CSUDayofGiving on your social media platforms.

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Day of Giving: 1870 minutes to share past, give to the future - Source

"Access to testing is really the major tool we have right now to fight this new coronavirus," says Dr. Keith Jerome, who runs a University of Washington lab in Seattle that can now test for the virus. Jonathan Hamilton/NPR hide caption

"Access to testing is really the major tool we have right now to fight this new coronavirus," says Dr. Keith Jerome, who runs a University of Washington lab in Seattle that can now test for the virus.

It's been a busy week at the virology lab run by UW Medicine, which includes the University of Washington's medical school and hospitals.

"We've already gone to three shifts," says Dr. Keith Jerome, a professor in the department of laboratory medicine who runs the lab. "People are going to be here basically all the time."

The lab is processing about 100 coronavirus tests a day. But it's prepared to do more than 1,000 a day immediately and could quickly increase that to 4,000, Jerome says.

The demand for tests is rising. Seattle is at the center of a coronavirus outbreak that has already claimed the lives of 10 people in Washington state.

One reason the lab is ready to test lots of people is its state-of-the-art equipment, including twin devices that extract genetic material from specimens.

"That all happens robotically," Jerome says, as he gives me a tour of the lab's testing area. "You can see the arms here moving back and forth. This robot is working on 96 specimens at a time. We have two of them. This is part of the magic of moving so many specimens through this laboratory."

In another area of the lab is a room full of instruments that take bits of genetic material from a virus and make millions of copies. That's critical for detecting an infection, Jerome says.

"Right now this is our limiting factor," he says, adding that they've already asked to borrow more of the instruments from other labs affiliated with the university.

But the lab's readiness also is the result of months of planning.

Jerome and other virologists started the process in January, after hearing reports about the coronavirus outbreak in China.

"Our opinion was, this is probably not going to be a problem, this is probably going to be a waste of our effort and some money, but we owe it to the people of our area to be prepared," he says.

So the scientists developed an assay and began using it test specimens sent in for research purposes.

At first, the tests found no infections, says Dr. Alex Greninger, the lab's assistant director. Then, on Feb. 28, one came back positive.

"That was on Friday at 4 p.m.," he says. "And then Saturday morning the FDA came out with a new regulation that allowed us to perform testing."

The change at the Food and Drug Administration was a new policy that allowed sophisticated labs like the one at UW Medicine to develop and use their own coronavirus tests before the agency had reviewed them.

On Monday and Tuesday, the lab quietly began accepting specimens for clinical use and preparing for high-volume testing.

"It was intense," Greninger says, adding that he and colleagues were working past midnight to make sure the system functioned properly.

But the hard part wasn't the testing itself, Greninger says, but the logistics.

For example, "how many swabs you're going to take from each patient, how you're going to handle sending results and samples to the state public health lab," he says.

Then on Wednesday, Jerome and Greninger held a press conference to announce that the lab was officially open for business.

Now they are expecting an avalanche of specimens. And that's a good thing, Jerome says.

"Access to testing is really the major tool we have right now to fight this new coronavirus," he says

Even with the lab's increased capacity, though, testing remains limited to people who have symptoms including fever and a dry cough.

"My goal is everyone who needs a test can get one," Jerome says. "And that might be different than everyone who wants a test."

Local doctors say the lab will make a huge difference.

"It's a game changer," says Dr. Seth Cohen, medical director for infection prevention at UW Medical Center Northwest. "Previously when we would send those tests to the [Centers for Disease Control and Prevention] in Atlanta it was taking three to five days to get those tests back."

Now results often come back the same day. And that means doctors and hospitals can focus resources on the patients who are truly infected.

Conserving scarce resources will become critical if the coronavirus continues to spread, Cohen says.

"We did not plan on being at the epicenter of one of the outbreaks in the United States," Cohen says. "And we are preparing for the worst."

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Coronavirus Tests: Lab At University Of Washington Was Ready : Shots - Health News - NPR

From left, College of Medicine graduate student Jamie Johnston, College of Medicine Associate Professor Jose Pinto, College of Medicine graduate student Maicon Landim-Vieira and Department of Biological Science Professor P. Bryant Chase.Photo courtesy of P. Bryant Chase.

Florida State University researchers working in an international collaboration have identified new genetic variants that cause heart disease in infants, and their research has led to novel insights into the role of a protein that affects how the heart pumps blood. It is a discovery that could lead to new treatments for people suffering from heart disease.

In two separate papers, Jose Pinto, an associate professor in the College of Medicine, and P. Bryant Chase, a professor in the Department of Biological Science, worked with doctoral students Jamie Johnston and Maicon Landim-Vieira to explore a disease that caused the heart to pump with too little force. Their work was published in the Journal of Biological Chemistry and in Frontiers in Physiology.

The researchers discovered new interactions within parts of a protein called troponin. Troponin has three parts troponin C, troponin I and troponin T that work together to regulate the hearts pumping of blood. The FSU researchers uncovered interactions of troponin C with portions of troponin T that can decrease the force of the heartbeat, something scientists had not previously noticed.

All of these proteins, they work like an orchestra, Pinto said. What is the main thing for an orchestra? To be in harmony, in balance. You need to have a good balance and you need to be in harmony, otherwise you will not produce good music. If one of these proteins is not in sync with the other proteins, you will not have your orchestra in harmony or balanced well, and then that will lead to the disease.

Most previous work had focused on interactions between troponin C and troponin I, or between troponin T and another protein called tropomyosin. The new interaction between troponin C and troponin T is an interaction that will modulate how much force the heart generates in each heartbeat, Pinto said. If you increase the number of these interactions, most likely you decrease contraction of the heart, and if you prevent these interactions, very likely you increase the force of contraction in each heartbeat.

But science sometimes leads to more questions than answers. A related study by the same FSU researchers reported a new combination of genetic variants in a different part of troponin C that also caused heart disease in infants. Rather than uncovering new interactions among the parts of troponin, this study led researchers to conclude that there must be an unknown role for troponin, possibly in the cell nucleus, Chase said.

In that research, DNA sequencing showed that a mother and a father had different variants that both affected the troponin C protein. Although their cell function was altered in such a way that researchers expected them to have heart problems, they did not show signs of heart disease. Their children, however, had both variants, and though their cell functioning appeared to be more normal, they developed deadly heart disease.

Some experiments provide a lot of immediate insight, but other times we find out that we just dont understand everything that we think we do, Chase said. As much as weve learned, as much as we do understand, theres a lot more thats unknown. And its those times that can eventually lead to brand new, unexpected insights.

Understanding the interactions between the parts of the troponin protein and also troponins various roles in heart cells will help guide new treatments for heart disease, both for the disease caused by the specific genetic variants the researchers discovered and for heart disease in general.

These diseases are caused by seemingly small changes in the DNA, Chase said. There are genetic technologies to reverse that, to introduce the common DNA sequence, but applications of genetic technologies to human disease are in their infancy and theres not a surefire and ethical way to apply changes in the genome to all the heart patients who could benefit from it. Im sure there will be ways to correct genetic variants for a number of diseases, but the medical community is only just beginning to find out how to do that safely for people.

Researchers from the FSU Translational Science Laboratory, Federal University of Rio de Janeiro, Federal University of Minas Gerais, Tel Aviv Sourasky Medical Center, Tel Aviv University and Yale University contributed to this work. The research was supported by the American Heart Association and the National Institutes of Health.

Originally posted here:
FSU researchers help discover new genetic variants that cause heart disease in infants - Florida State News

Scientists at the Casey Eye Institute, in Portland, Ore., have have injected a harmless virus containing CRISPR gene-editing instructions inside the retinal cells of a patient with a rare form of genetic blindness. KTSDesign/Science Photo Library/Getty Images hide caption

Scientists at the Casey Eye Institute, in Portland, Ore., have have injected a harmless virus containing CRISPR gene-editing instructions inside the retinal cells of a patient with a rare form of genetic blindness.

For the first time, scientists have used the gene-editing technique CRISPR to try to edit a gene while the DNA is still inside a person's body.

The groundbreaking procedure involved injecting the microscopic gene-editing tool into the eye of a patient blinded by a rare genetic disorder, in hopes of enabling the volunteer to see. They hope to know within weeks whether the approach is working and, if so, to know within two or three months how much vision will be restored.

"We're really excited about this," says Dr. Eric Pierce, a professor of ophthalmology at Harvard Medical School and director of the Inherited Retinal Disorders Service at Massachusetts Eye and Ear. Pierce is leading a study that the procedure launched.

"We're helping open, potentially, an era of gene-editing for therapeutic use that could have impact in many aspects of medicine," Pierce tells NPR.

The CRISPR gene-editing technique has been revolutionizing scientific research by making it much easier to rewrite the genetic code. It's also raising high hopes of curing many diseases.

Before this step, doctors had only used CRISPR to try to treat a small number of patients who have cancer, or the rare blood disorders sickle cell anemia or beta-thalassemia. While some of the initial results have been promising, it's still too soon to know whether the strategy is working.

In those other cases, doctors removed cells from patients' bodies, edited genes in the cells with CRISPR in the lab and then infused the modified cells back into the volunteers' bodies to either attack their cancer or produce a protein their bodies are missing.

In this new experiment, doctors at the Casey Eye Institute in Portland, Ore., injected (into the eye of a patient who is nearly blind from a condition called Leber congenital amaurosis) microscopic droplets carrying a harmless virus that had been engineered to deliver the instructions to manufacture the CRISPR gene-editing machinery.

Beginning in infancy, the rare genetic condition progressively destroys light-sensing cells in the retina that are necessary for vision. Vision impairment with LCA varies widely, but most patients are legally blind and are only able to differentiate between light and dark or perhaps to detect movement.

"The majority of people affected by this disease have the most severe end of the spectrum, in terms of how poor their vision is," Pierce says. "They're functionally blind."

The goal is that once the virus carrying the CRISPR instructions has been infused into the eye, the gene-editing tool will slice out the genetic defect that caused the blindness. That would, the researchers hope, restore production of a crucial protein and prevent the death of cells in the retina, as well as revive other cells enabling patients to regain at least some vision.

"It's the first time the CRISPR gene-editing is used directly in a patient," Pierce says. "We're really optimistic that this has a good chance of being effective."

The study is being sponsored by Editas Medicine, of Cambridge, Mass., and Allergan, based in Dublin. It will eventually involve a total of 18 patients, including some as young as ages 3 to 17, who will receive three different doses.

"We're very excited about this. This is the first time we're doing editing inside the body," says Charles Albright, the chief scientific officer at Editas.

"We believe that the ability to edit inside the body is going to open entire new areas of medicine and lead to a whole new class of therapies for diseases that are not treatable any other way," Albright says.

Francis Collins, director of the National Institutes of Health, calls the advance "a significant moment."

"All of us dream that a time might be coming where we could apply this approach for thousands of diseases," Collins tells NPR. "This is the first time that's being tried in a human being. And it gives us hope that we could extend that to lots of other diseases if it works and if it's safe."

Pierce, Albright and others stressed that only one patient has been treated so far and that the study, still at a very early stage, is designed primarily to determine whether injecting the gene-editing tool directly into the eye is safe.

To that end, the researchers are starting with lowest dose and the oldest patients, who have already suffered extensive damage to their vision. And doctors are only treating one eye in each patient. All of those steps are being taken in case the treatment somehow backfires, causing more damage instead of being helpful.

"CRISPR has never been used directly inside a patient before," Pierce says. "We want to make sure we're doing it right."

Still, he says, if the underlying defect can be repaired in this patient and others with advanced damage, "we have the potential to restore vision to people who never had normal vision before. It would indeed be amazing."

The study involves a form of Leber congenital amaurosis known as Type 10, which is caused by a defect in the CEP290 gene.

If the approach appears to be safe and effective, the researchers will start treating younger patients.

"We believe children have the potential to have the most benefit from their therapy, because we know their visual pathways are still intact," Albright explains.

The procedure, which takes about an hour to perform, involves making tiny incisions that enable access to the back of the eye. That allows a surgeon to inject three droplets of fluid containing billions of copies of the virus that has been engineered to carry the CRISPR gene-editing instructions under the retina.

The idea is that once there, the CRISPR editing elements would snip out the mutation that causes a defect in CEP290. The hope is that this would be a one-time treatment that would correct vision for a lifetime.

If it works, the volunteers in the study might be able to have the procedure repeated on the other eye later.

"If we can do this safely, that opens the possibility to treat many other diseases where it's not possible to remove the cells from the body and do the treatment outside," Pierce says.

The list of such conditions might include some brain disorders, such Huntington's disease and inherited forms of dementia, as well as muscle diseases, such as muscular dystrophy and myotonic dystrophy, according to Pierce and Albright.

"Inherited retinal diseases are a good choice in terms of gene-based therapies," says Artur Cideciyan, a professor of ophthalmology at the University of Pennsylvania, given that the retina is easily accessible.

But Cideciyan cautions that other approaches for these conditions are also showing promise, and it remains unclear which will turn out to be the best.

"The gene-editing approach is hypothesized to be a 'forever fix,' " he says. "However, that's not known. And the data will have to be evaluated to see the durability of that. We'll have to see what happens."

More:
CRISPR Used To Edit Genes Inside A Patient With A Rare Form Of Blindness : Shots - Health News - NPR

The Mercer Island School District will present its fifth annual Pathfinder Awards to Robin Bennett and Steve Hawes.

The Pathfinder Award is the districts highest alumni honor, presented to graduates of Mercer Island High School (MIHS) whose achievements, strength of character, and citizenship inspire and challenge todays youth to make significant contributions to humankind.

Bennett, Class of 1977

Inspired by her MIHS biology teacher Bill Tougaw, Bennett graduated from Kenyon College and was among the first graduates from the genetic counseling training program at Sarah Lawrence College.

She began her career at the University of Washington Medical Center as its first certified genetic counselor, where she continues to work 35 years later as senior genetic counselor and manager of the Genetic Medicine Clinic. The clinic has grown into one of the leading clinics in the country for adult and cancer genetics services.

Bennett is a leader in developing genetic counseling practice recommendations, including the criterion for a genetic family history that are now the world standard. Her book, The Practical Guide to the Genetic Family History (2nd edition) is used to train students around the world (the book is dedicated to Bill Tougaw).

She is a national and international leader in the field of genetic counseling and beyond, having served as president of the National Society of Genetic Counselors and on the board of directors of the major national and international societies in human genetics and genetic counseling. She is the first genetic counselor to receive a faculty title in the UW School of Medicine where she now is a clinical professor. She has mentored many students who are interested in genetic counseling. Bennett is the acting director of the new Masters in Genetic Counseling Program being developed in the University of Washington School of Medicine.

Hawes, Class of 1968

Nearly 52 years after he graduated, Steve Hawes name remains etched throughout the record book of the MIHS boys basketball program.

The MIHS records include most points in a game (49), most rebounds in a game (40), career rebounds, rebounds in a season and rebounds per game. He averaged 28 points per game and 20 rebounds per game in his senior season, 1967-68, which was also the first year for hall of fame coach Ed Pepple.

Hawes went on to star for four years at the University of Washington, averaging 20 points and 13 rebounds a game over his career and was later inducted into the Husky Hall of Fame and the Pacific-10 Conference Hall of Honor. Hawes was selected in the second round of the 1972 NBA draft, but chose first to play overseas in Italy. He began his NBA career in 1974 with the Houston Rockets, then played one season with Portland and seven with Atlanta before finishing his career with the hometown Seattle SuperSonics in 1983 and 1984. He returned to Italy for one final season before retiring as a player.

Hawes came home again to Seattle, serving as an assistant coach at Seattle Pacific, Seattle University and UW. He started coaching high school basketball while operating Advent Print Resources, which he sold in 2013 after 20 years. He is now in his third stint as the boys basketball coach at The Bush School.

Event

The newest Pathfinders will be honored at the Mercer Island Schools Foundations Breakfast of Champions on April 28. Register to attend the breakfast online at mercerislandschoolsfoundation.com.

A permanent Pathfinder Awards wall has been created at Mercer Island High School alongside previously recognized distinguished graduates. Seventeen (17) alumni have now been recognized since the awards began in 2016.

The recipients were selected from dozens of nominations submitted by the community at large and chosen by a selection committee comprised of staff, students, administrators, community members and alumni from the district and the Mercer Island Schools Foundation.

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Mercer Island high grads to be honored Bennett and Hawes - Mercer Island Reporter

March 04, 2020 -Massachusetts General Hospital (MGH) is launching a new Preventive Genomics Clinic that will help advance precision medicine and preventive care by leveraging genetic information.

The new clinic will be integrated with the primary care practices at MGH, and will aim to help patients better understand, prevent, and predict disease. MGH chose to establish the genomics clinic after receiving requests from providers and patients for greater use of genetics in clinical care.

We believe DNA testing will be a key piece of routine care in the future, said Amit V. Khera, MD, an MGH cardiologist and co-founder of the new clinic. But, in many cases, our PCPs were unsure which of the available genetic tests were most appropriate for their patients or how best to integrate that information into an individualized screening or treatment plan. Thats why it was so important for us to root ourselves within primary care from the start.

Common reasons for referral to the clinic include requests for interpretation of an existing genetic test result, concern about family history of disease, or an interest in learning about the risks and benefits of testing while still asymptomatic.

Patients meet with a genetic counselor and physician to gather personal and family history information. If patients do decide to proceed with genetic testing, the team reviews testing options, works with the patients health insurance to determine whether it would be covered, and coordinates with the patients care team to make a plan based on test results.

READ MORE: FDA Approvals Advance Precision Medicine, Genomics Treatments

What has been surprising is the majority of the tests weve ordered have been fully covered by medical insurance based on family history or other indications, said Renee Pelletier, lead genetic counselor of the new program. This speaks to the underutilization of appropriate genetic testing for our patients.

For patients who are truly asymptomatic and have no family history of disease, the clinic offers preventive genomics assessments that typically arent covered by insurance. This could include testing for the BRCA1 mutations, which signal very high risk for breast and ovarian cancer, as well as mutations that can lead to high cholesterol levels and risk for early heart attack. In both of these cases, treatment options exist that can help patients overcome these genetic risks.

The team has also launched an eConsult program, which allows any physician to request a review of his or her patients medical record by the Preventive Genomics Clinic. Staff at the clinic can then determine whether genetic testing or a clinic appointment would be beneficial for the patient. Additionally, the team can answer questions about ordering new genetic testing or interpreting prior genetic testing results.

In many cases, we are able to answer a key clinical question just based on review of medical records, said Leland Hull, MD, a primary care physician in the group. For others, we recommend they be seen in our clinic or one of the several subspecialty clinics available at MGH for more detailed evaluation.

In the future, the clinic expects to see patients who learn about high genetic risk from ongoing research studies, including the Partners HealthCare Biobank or the NIH All of Us Research Program. Over the next several years, these programs are expected to perform sequencing of more than 100,000 participants in the Boston area.

READ MORE: New Precision Medicine Program to Study Role of Genomics in Disease

As the healthcare industry has increasingly recognized the important role precision medicine and genomics can play in patient health, more organizations are supporting the integration of genetic testing with routine clinical care.

Recently, a group of stakeholders launched the Institute for Gene Therapies (IGT), which will aim to modernize the US regulatory and reimbursement framework to ensure gene therapies for patients who need them.

The incredible scientific advancements in this space present unique opportunities to directly improve and save the lives of patients suffering from debilitating diseases, said IGT Chairman and former Congressman Erik Paulsen.

This is not some far-off future patients are already benefiting from the first FDA-approved gene therapies. But we need policy to move faster toward this new reality where we can treat the causes of many diseases. The Institute for Gene Therapies and our members believe unique regulatory and reimbursement structures need to be established, novel development pathways need to be embraced and new value-based arrangements need to be tested.

With the launch of the Preventive Genomics Clinic, MGH will help further incorporate novel tests and treatments into everyday healthcare delivery.

Its exciting to know we can now support access to genomics long before disease develops, promoting the best outcomes for our patients, said Heidi Rehm, PhD, chief genomics officer at MGH. Our goal is to build this resource for our own community and collaborate with other hospitals across the country in defining the best models for this new type of preventive clinical care.

Originally posted here:
New Genomics Clinic Will Enable Preventive Care, Precision Medicine - HealthITAnalytics.com

University of Georgia senior Callan Russell, an Honors student from McDonough, has been selected for the third cohort of Knight-Hennessy Scholars, a global graduate-level program at Stanford University.

Established in 2016, the Knight-Hennessy Scholars program provides full funding for graduate students as they pursue studies ranging from medicine to law to doctoral programs as well as joint and dual degrees.

The program is designed to prepare students to take leadership roles in finding creative solutions to complex global issues.

Callan is a very active Honors student who has been selected for some of our most impressive scholarships and programs, including the Crane Leadership Scholarship, said David S. Williams, associate provost and director of the Honors Program. Callan has also been greatly engaged with undergraduate research through CURO, which has positioned her to enter a most exciting new field, genetic counseling. Given that Stanford has arguably the top program in this cutting-edge area, the Knight-Hennessy Scholarship is a perfect fit for her.

Callan Russell. (Photo by Stephanie Schupska)

Russell will graduate in May with a bachelors degree in genetics and a minor in music and will begin a masters degree in human genetics and genetic counseling at Stanford University this September. Her long-term goal is to be a prenatal genetic counselor in a hospital setting, educating potential parents about their family histories and the role genetics play in family planning.

Genetic counseling combines hard science with caring for people and the opportunity to directly interact with patients, Russell said. Stanford, the Knight-Hennessy Scholars program, and the niche they provide are a dream fit for my career goals.

For the past two years, Russell has conducted genetics research in the lab of Robert Schmitz, Lars G. Ljungdahl Distinguished Investigator in the Franklin College of Arts and Sciences. A CURO research assistant, she has been studying heat tolerance and photomorphogenesis in Arabidopsis thaliana, a small flowering plant widely used as a model organism in genetics and plant biology. She also spent six weeks last summer shadowing genetic counselors through the University of South Carolinas School of Medicine.

Russell is band captain and trombone section leader in both the UGA Redcoat Marching Band and various UGA ensembles and coordinates community and university events. She volunteers with Extra Special People, assisting children and adults with disabilities; co-founded UGA G.E.N.E.S., the first genetics club at UGA; and has presented her Arabidopsis research at the CURO Symposium. She also received the Vince Dooley Redcoat Band Scholarship.

UGAs major scholarships coordinator, housed in the Honors Program, provides students from across campus with assistance as they apply for national, high-level scholarships. For more information, contact Jessica Hunt at 706-542-6206 or jhunt@uga.edu.

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Callan Russell named a Knight-Hennessy Scholar - University of Georgia

Iridescent blue-striped zebrafish dart back and forth in tiny tanks stacked floor-to-ceiling in the basement of the Baylor College of Medicine. The freshwater minnowssome 13,000 strong in their watery studio apartmentsplay an integral role in innovative biomedical research.

They are part of the Gorelick Lab, one of more than 3,250 sites in 100 different countries using zebrafish to advance medicine and better understand human diseases. Led by Daniel Gorelick, Ph.D., assistant professor in the department of cellular and molecular biology at Baylor, the lab studies zebrafish to learn how certain hormones and chemicals affect the development and function of the human heart and brain, as well as other tissues.

Gorelick in the lab.

Although science and technology are constantly evolving, zebrafish have remained relevant research tools for almost 50 years. Today, scientists are harnessing the power of CRISPR-Cas9 technologywhich can edit segments of the genome by deleting, inserting or altering sections of the DNAto generate specific mutations in zebrafish.

This has been a huge advance because it allows us to create mutant strains of zebrafish that have the same mutations as are found in a human disease, said Gorelick, whose lab is housed in Baylors Center for Precision Environmental Health and is currently undergoing an expansion to accommodate as many as 30,000 fish.

In addition, scientists have long sought to map the cell-by-cell progression of animals, in pursuit of understanding how a single cell develops into trillions of cells that make up an intricate biological system of organs. With single-cell RNA sequencing, a technology named Science magazines 2018 Breakthrough of the Year, scientists are able to track the different, intricate stages of embryo development in unprecedented detail, allowing researchers like Gorelick to study the cascading effects at the cellular level.

Theres just so much evidence now that a lot of the drugs that are effective in humans are also effective in [zebrafish], so people are now starting to use fish to discover drugs, Gorelick said. You want to know, if youre taking a drug or youre exposed to some pollutant, does that cause birth defects? How does that affect the life of humans? We can use [zebrafish] as research tools to understand how the chemicals normally work in a normal embryo.

Regenerative heartZebrafish are named for the colorful horizontal stripes on their bodies, and can grow from 1.5 to 2 inches in length. The tropical fish are native to South Asia.

On the surface, zebrafish appear nothing like humans, but 70 percent of the genes in humans are found in zebrafish and 84 percent of human genes associated with human disease have a zebrafish counterpart, studies show.

George Streisinger, an American molecular biologist and aquarium enthusiast, pioneered the use of zebrafish in biomedicine at the University of Oregon in 1972. His breadth of knowledge about zebrafish laid the groundwork for research methodologies, including developing breeding and care standards and creating tools for genetic engineering and analysis. He performed one of the first genetic screens of zebrafish by using gamma rays to randomly mutate the DNA of certain zebrafish and identify offspring that had notable phenotypes, such as pigmentation defects.

That caused a big explosion in the field and then thats when things really took off, Gorelick said.

Zebrafish are now used as a genetic model for the development of human diseases, including cancer, cardiovascular diseases, infectious diseases and neurodegenerative diseasesto name a few. Housed down the street from Gorelicks lab, John Cooke, M.D., Ph.D., is using zebrafish to study atherosclerosis, the major cause of heart disease in the country. Although zebrafish have only one ventricle to pump blood to the heart, whereas humans have two (a left and a right ventricle), their vasculature is very similar to humans.

The zebrafish can help us in understanding the cardiovascular system, in achieving those basic insights, and in translating those basic insights towards something thats potentially useful for people, said Cooke, director of the Center for Cardiovascular Regeneration at Houston Methodist Research Institute.

Cooke hopes that studying the regenerative capabilities of the zebrafish heart will lead to new discoveries that help human patients.

You can remove 20 percent of their heart, and they can regenerate it, Cooke explained. Why is that? We want to know. There are groups that are studying that amazing regenerative capacity of the [zebrafish] heart, and those insights obtained from that work may lead us to new therapies for people to regenerate the human heart or, at least, improve the healing after a heart attack.

Watching cells migrateAlthough mice are genetically closer to humans than zebrafish, sharing 85 percent of the same genomes, zebrafish have a few key advantages for researchers.

On average, zebrafish produce between 50 to 300 eggs, all at once, every 10 days. Their rapid breeding allows scientists to quickly test the effects of genetic modifications (such as gene knockouts and gene knock-ins) on current fish, as well as ensuing generations.

In addition, zebrafish are fertilized and developed externally, meaning the sperm meets the egg in the water. This allows scientists to access the embryos more easily, as opposed to mouse embryos that develop inside the womb. In one of his research projects, Gorelick simply adds drugs to the water to see how the zebrafish are affected.

Most drugs in the water will get taken up by the embryo, Gorelick said. We add it into the water and it gets taken up the next day when theyre just one day old. All of that discovery happened in zebrafish because you can literally watch it live.

Not only do zebrafish embryos develop quickly, they are also transparent. Within two to four days, a zebrafish will develop all its major organsincluding eyes, heart, liver, stomach, skin and fins.

We can literally watch these cells migrate from different parts of the embryo, form the tube, constrict, form the hourglass, loop on itself, beat regularly and see blood flow all at the same time, Gorelick said. When theres a belly and a uterus, you dont have access. You can use things like ultrasound, like we do with humans, but you cant get down to single-cell resolution like we can with the fish.

Ultimately, zebrafish have proven to be a powerful resource for researchers. Although all zebrafish studies are confirmed in rats and mice, followed by human tissue, they constitute a significant stepping stone.

You wouldnt want to build a house only using a hammer and a screwdriver. I want a power drill and I want a band saw, Gorelick said. Fish are part of that. Theyre not a cure-all. Theyre not the only tool, but theyre an important tool.

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Zebrafish are the tropical minnows advancing genetics and molecular biology - TMC News - Texas Medical Center News

By Medicine Hat News on March 3, 2020.

The province will cover the cost of another drug for Albertans with cystic fibrosis.

Effective March 1 the drug kalydeco is part of the governments drug plan.

Since 2014 kalydeco has been available to patients more than six years old who had cystic fibrosis and one specific genetic mutation. The coverage is now expanded to include an additional eight genetic mutations: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N and S549R.

Patients over 18 with an R117H mutation in the CFTR gene will also be covered for this medication.

Cystic fibrosis is a genetic disease affecting the digestive system and lungs primarily. The severity of the disease differs from person to person and it is often fatal.

The government said the pan-Canadian Pharmaceutical Alliance was able to negotiate a pricing agreement with the manufacturer of this prescription drug that made expanded coverage possible.

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New construction will inspire discovery, collaboration, faculty recruitment at School of Medicine

Washington University in St. Louis will begin construction in March on an 11-story, 609,000-square-foot neuroscience research building on the School of Medicine campus. The project initially will bring together more than 100 research teams focused on solving the many mysteries of the brain and the bodys nervous system.

Washington University in St. Louis will begin construction in March on what will be one of the largest neuroscience research buildings in the country. Located on the School of Medicine campus, the 11-story, state-of-the-art research facility will merge, cultivate and advance some of the worlds leading neuroscience research.

The 609,000-square-foot facility and interconnected projects initially will bring together over 100 research teams focused on solving the many mysteries of the brain and the bodys nervous system. Those teams, comprising some 875 researchers, will come from a wide array of disciplines, including the medical schools neurology, neuroscience, neurosurgery, psychiatry and anesthesiology departments.

Washington University is one of the premier institutions in the world in neuroscience research, with faculty known for their contributions to the understanding of normal brain development, how nerve cells communicate, neuroimaging, neurological diseases such as Alzheimers disease, and surgical treatments for cerebral palsy, among other contributions, said Chancellor Andrew D. Martin. With this new building, we are able to offer the neuroscience community a central home and a laboratory environment that can inspire entirely new concepts that allow us to grasp a much deeper understanding of the brain and have a global impact on health and science.

The School of Medicine has a long history as one of the worlds foremost centers for neuroscience research, including as a leading institution in the study of Alzheimers disease. Its scientists have identified key molecules involved in sculpting nervous system development and triggers of neurodegenerative diseases, mapped connections from brain region to brain region, and developed pioneering surgical treatments for nerve injuries, among other groundbreaking discoveries.

David H. Perlmutter, MD, executive vice chancellor for medical affairs, the George and Carol Bauer Dean of the School of Medicine, and the Spencer T. and Ann W. Olin Distinguished Professor, said the new facility will open the door to bold new research initiatives and partnerships.

Understanding the brain is key to addressing some of the most devastating afflictions that affect mankind, Perlmutter said. So many of us have been touched by the inexorable decline of our loved ones due to diseases and conditions such as Alzheimers and Parkinsons, brain trauma, glioblastoma and severe mental illness, and we have learned that the development of effective therapies has proven formidable. As scientists, we believe that a deeper understanding of cognition and emotional regulation can help us address major public health problems such as obesity, substance abuse, depression and suicide.

The initiative will increase synergy and facilitate greater collaboration between scientists in the medical schools neuroscience-focused departments and researchers in related disciplines, especially those whose work requires close collaboration with neuroscientists.

This rendering shows a view from the west of the planned neuroscience research center.

Collaboration across disciplines will be key to advancing our understanding of this new frontier in medicine, Perlmutter said. For example, new studies have recognized the importance of the microbiome and its interaction with our immune system in shaping the development and function of the brain. Work on synaptic connections in the nervous system is also critical to the development of machine intelligence and socially interactive robots that could solve many of the most important challenges of modern society. This building will be dedicated to advancing our global leadership position in solving these very big problems with imagination and rigor.

The new research center also is expected to inspire health-minded entrepreneurial pursuits and synergy with visionary business developers situated within a stones throw of the new research center. The building and related construction, which will be built at an expected cost of $616 million, will sit at the eastern edge of the Medical Campus, in the 200-acre Cortex Innovation Community, one of the fastest growing business, innovation and technology hubs in the United States and home to numerous biotech startups founded by Washington University faculty, staff and students.

We are constructing the building at the intersection of Cortex and the Medical Campus to encourage efforts by Washington University neuroscientists to transform their research into innovations that can move rapidly to improve medical care and quality of life for people with neurological conditions, said Jennifer K. Lodge, PhD, the universitys vice chancellor for research.

Among Washington Universitys achievements in the field of neuroscience, two Nobel Prizes in Physiology or Medicine have been won by scientists at the university. In 1944, Joseph Erlanger and Herbert Gasser won the Nobel for their work studying nerve fibers. They showed that the conduction velocity of nerve impulses is faster in thick nerve fibers than in thin fibers, and identified numerous other properties of sensory and motor nerves. And in 1986, Stanley Cohen and Rita Levi-Montalcini won the Nobel for discovering chemical growth factors essential for cell growth and development in the body. In the 1950s, they discovered nerve growth factor, a protein crucial for building networks of nerves.

The School of Medicine has a longtime, deep commitment to understanding, treating and preventing Alzheimers in particular. In the U.S., 5.8 million people are living with the disease, with the number projected to rise to nearly 14 million by 2050. Alzheimers and other dementias cost the U.S. a staggering $290 billion in 2019, and the cost is predicted to climb as high as $1.1 trillion by 2050, according to the Alzheimers Association.

The new center is intended to complement and build on The Brain Research Advancing Innovative Neurotechnologies Initiative (The BRAIN Initiative), an extensive effort launched in 2013 by the National Institutes of Health (NIH) to revolutionize our understanding of the brain and brain disorders. Despite tremendous advances in neuroscience, the causes of numerous neurological and psychiatric conditions remain unknown. Like The BRAIN Initiative, Washington Universitys leadership understands how critical that information will be to figuring out how to effectively counter these diseases and help the many people suffering from them. In fact, several research projects led by Washington University investigators are funded by The BRAIN Initiative and will find a home in the new neuroscience building.

The medical schools faculty have long been lauded for the collaborations they develop across the university, and the new research facility is intended to boost and significantly drive such efforts. The building will feature research neighborhoods and a shared area on each floor to spur conversation and collaboration. The neighborhoods will be organized around research themes among them, addiction, neurodegeneration, sleep and circadian rhythm, synapse and circuits, and neurogenomics and neurogenetics that bring together people with common interests from multiple departments. The first researchers are slated to move into the building in 2023. While the initial construction will accommodate more than 100 research teams, additional shell space could be built out later for another 45 research teams.

This rendering shows a view from the southwest of the planned neuroscience research building.

The additional space created in this building represents the next step in the schools strategic plan to increase its research base by more than 30% over the next 10 years. The school is currently ranked fourth among U.S. medical schools in NIH funding and aims to leverage the breadth of its basic and clinical research assets, together with existing and new industry partnerships, to enhance its core mission in discovery and development of new treatments.

We have been very successful at attracting top-notch researchers and their teams to the School of Medicine, and this continues to be a chief goal, Perlmutter said. The focus on neuroscience in this building is also integral to our aspirations across the Medical Campus to utilize the paradigm of personalized medicine and to address the problems of aging and degenerative diseases.

Added David Holtzman, MD, the Andrew B. and Gretchen P. Jones Professor and head of the Department of Neurology: A key goal for the neuroscience center is to take what we discover in our laboratories and get it out into the public sector so patients, and society as a whole, can benefit. This building and the collaborations it will grow will position us to achieve meaningful breakthroughs in science and medicine.

An internationally renowned expert on the causes of Alzheimers disease, Holtzman and his team helped develop antibodies aimed at preventing dementia by reducing deposits of the Alzheimers proteins amyloid beta and tau in the brain, and have advanced the understanding of how sleep and apolipoprotein E the most important genetic risk factor for Alzheimers contribute to brain injury. Holtzman also is involved in a project led byRandall J. Bateman, MD, the Charles F. and Joanne Knight Distinguished Professor of Neurology, to develop a blood test that can measure levels of amyloid beta and other proteins in the blood with the goal of diagnosing Alzheimers before symptoms develop.

The new neuroscience facility to be located at 4370 Duncan Avenue extends the School of Medicines reach eastward. As part of the construction, the university will add to its network of elevated, connected walkways, known as the Link, to reach the neuroscience research hub, and also will build a utility plant. In addition to the facilitys labs and research-focused areas, the new building will have event space, a large seminar room and a food-service area, as well as an 1,860-space parking garage. The architectural firms Perkins and Will, and CannonDesign are the projects designers, and McCarthy Building Companies will oversee construction.

Neuroscience research is a synergetic enterprise that depends on the expertise of people in many fields, Holtzman said. By bringing together so much knowledge, talent and passion, this new facility will make it considerably more likely that people will have the kinds of water-cooler discussions that lead to interdisciplinary game-changing ideas and projects. Im very excited to see what we will do.

Neuroscience research highlights

Washington University researchers:

Through ongoing research, they are:

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Washington University to break ground on major neuroscience research hub Washington University School of Medicine in St. Louis - Washington...

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A unique molecular structureevident in induced pluripotent stem cells taken from people with young-onset Parkinson's diseasesuggests that the defects may be present throughout patients' lives, and that they could therefore be used as diagnostic markers.

Induced pluripotent stem cells (iPSCs) taken from patients with young-onset Parkinson's disease (YOPD) and grown into dopamine-producing neurons displayed a molecular signature that was corrected in vitro, as well as in the mice striatum, by a drug already approved by the US Food and Drug Administration (FDA), a study published in the January 27 online edition of Nature Medicine found.

Although the patients had no known genetic mutations associated with PD, the neurons grown from their iPSCs nonetheless displayed abnormally high levels of soluble alpha-synucleina classic phenotype of the disease, but one never before seen in iPSCs from patients whose disease developed later in life. Surprisingly, for reasons not yet understood, the cells also had high levels of phosphorylated protein kinase C-alpha (PKC).

In addition, the cells also had another well-known hallmark of PD: abnormally low levels of lysosomal membrane proteins, such as LAMP1. Because lysosomes break down excess proteins like alpha-synuclein, their reduced levels in PD have long been regarded as a key pathogenic mechanism.

When the study team tested agents known to activate lysosomal function, they found that a drug previously approved by the FDA as an ointment for treating precancerous lesions, PEP005, corrected all the observed abnormalities in vitro: it reduced alpha-synuclein and PKC levels while increasing LAMP1 abundance. It also decreased alpha-synuclein production when delivered to the mouse striatum.

Unexpectedly, however, PEP005 did not work by activating lysosomal function; rather, it caused another key protein-clearing cellular structure, the proteasome, to break down alpha-synuclein more readily.

The findings suggest that the defects seen in the iPSCs are present throughout patients' lives, and that they could therefore be used as diagnostic markers. Moreover, the drug PEP005 should be considered a potentially promising therapeutic candidate for YOPD and perhaps even for the 90 percent of PD patients in whom the disease develops after the age of 50, according to the study's senior author, Clive Svendsen, PhD, director of the Cedars-Sinai Board of Governors Regenerative Medicine Institute and professor of biomedical sciences and medicine at Cedars-Sinai.

These findings suggest that one day we may be able to detect and take early action to prevent this disease in at-risk individuals, said study coauthor Michele Tagliati, MD, FAAN, director of the movement disorders program and professor of neurology at Cedars-Sinai Medical Center.

But the study still raises questions regarding the biological mechanisms, and certainly does not warrant off-label prescribing of PEP005 at this time, said Marco Baptista, PhD, vice president of research programs at the Michael J. Fox Foundation, who was not involved with the study.

Repurposing PEP005 is a long way away, Dr. Baptista said. This is not something that neurologists should be thinking about prescribing or recommending to their patients.

Accumulation of alpha-synuclein has been seen in iPSC-derived dopaminergic cultures taken from patients with known genetic defects, but such defects account for only about 10 percent of the PD population. In those without known mutations, on the other hand, no defects in iPSC-derived dopamine-producing neurons have been seen. Until now, however, such studies had been conducted only in patients who had developed PD after age 50.

My idea was why to look in young-onset patients, said Dr. Svendsen.

The idea paid off more richly than he expected. We were shocked to find a very, very prominent phenotype, a buildup of alpha-synuclein, in the neurons of these patients who are genetically normal, Dr. Svendsen said. None of the controls had a buildup of synuclein, and all but one of the early PD patients had a twofold increase in it.

The signature is so consistent, he said, that it offers a natural model that can be interrogated to further understand its workings.

Because high levels of PKC were also seen, Dr. Svendsen said, We picked a bunch of drugs known to reduce PKC. We found one, PEP005, which is actually extracted from the milkweed plant, and it completely reduced synuclein levels almost to normal in dopaminergic neurons. And it also increased dopamine levels in those cells, so we got two for one.

After observing the effects of PEP005 in vitro, We put it into the mouse brain and found it reduced synuclein in vivo, Dr. Svendsen said. But we had to infuse it right into the brain. We're now trying to work out how to get it across the blood-brain barrier more efficiently.

To determine how PEP005 lowers cellular levels of alpha-synuclein, his group tested whether it was activating the lysosome, but found to their surprise that it did not do this until after the synuclein had already been degraded.

Then we asked whether it could be the proteosome, which also breaks down proteins but normally doesn't break down synuclein, Dr. Svendsen said. But when we applied PEP005, it did activate the proteasome. So we think that might be the mechanism.

Because the drug is currently applied externally, Dr. Svendsen said, the next step will be to see if it crosses the blood-brain barrier when applied to the skin of mice, and whether that results in a lowering of synuclein levels in dopaminergic neurons.

Justin Ichida, PhD, the Richard N. Merkin assistant professor of stem cell biology and regenerative medicine at the USC Keck School of Medicine, said the findings are quite important in the field. The potential diagnostic tools they made could be important in clinical care. And identifying a drug that may very effectively reverse the disease in neurons is a very important discovery.

He wondered, however, whether the increase in alpha-synuclein is truly specific to Parkinson's neurons or if it would also be seen in iPSC neurons from patients with Alzheimer's disease or amyotrophic lateral sclerosis.

I wonder if alpha-synuclein accumulating is a sign of PD in a dish or is a consequence of neurodegeneration or impaired protein degradation in general, Dr. Ichida said. That's a key question if you want to use this molecular signature as a diagnostic tool.

He also questioned if proteins other than alpha-synuclein, such as tau, would also be seen to accumulate in the iPSCs of YOPD patients.

If one of the protein-clearance mechanisms in the cell is working poorly, you would imagine that other things would also accumulate, Dr. Ichida said.

In response, Dr. Svendsen said that while some proteins other than alpha-synuclein were reported in the paper at increased levels, We did not look at tau specifically, but are in the process of looking right now. It could be that synuclein and some other proteins are somehow altered to evade them from being degraded by the lysosome, or that there is a general lysosomal problem.

Patrik Brundin, MD, PhD, director of the Center for Neurodegenerative Science and Jay Van Andel Endowed Chair at Van Andel Research Institute in Grand Rapids, MI, called the paper very interesting and thought-provoking. If these findings hold up, they could shift our understanding of young-onset PD. They imply that there is a strong genetic component that has not been picked up in prior genetic studies.

Dr. Brundin said he would like to see the results replicated in another lab using different sets of reagents. It is so intriguing and rather unexpected that one wonders if the observations really apply, as the study states, to 95 percent of all YOPD.

He also questioned whether all the young-onset PD patients are similar. Clearly the iPSCs studied here are not monogenetic PD, so they must be very diverse genetically and still all have the same alpha-synuclein change.

Dr. Brundin also asked why the abnormalities seen in YOPD neurons have not previously been seen in older cases of PD. Is there a specific cutoff regarding age-of-onset when these purposed genetic differences apply? he asked.

Dr. Svendsen responded: We don't know why the YO have this phenotype or exactly what the cut off is. We have, however, looked at one adult-onset case that did not show this phenotype. Also, one of our YO cases did not show this phenotype. Thus some patients even with early onset may not have it. We are currently testing many more cases from older-onset patients.

Dr. Brundin also wanted to know whether non-dopaminergic neurons have the same deficits described in the study.

We don't know which neurons specifically have the protein deficit as we cannot do single-cell proteomics, Dr. Svendsen answered. It could be a little in all cells or a lot in a small set. Immunocytochemistry is not quantitative but showed that it is more likely a general increase in synuclein and not specific to dopaminergic neurons.

While the findings in iPSCs suggest that the abnormal levels of alpha-synuclein must be present at birth, Dr. Brundin said, I do not know how to reconcile the present findings with genetic data.

The absence of previously described mutations in the YOPD patients means only that more work must be done to uncover the genetic underpinnings, Dr. Svendsen said.

We're just at the tip of the iceberg with understanding the genome, he said. It's such a bizarrely complex beast. Perhaps there are a thousand different proteins interacting to stop the synuclein from being degraded. In 10 years, we probably will be clever enough to see it. We know it must be there. Now the genome guys will go after it.

Dr. Baptista from the Michael J. Fox Foundation said he agreed with the view that there must be genetic alterations underpinning the defects seen in the iPSCs.

Just because we call something non-genetic could simply reflect the current ignorance of the field, he said. I think the discoveries are simply difficult to make.

He added that he wished that the main comparator in the study was not healthy controls, and that there were more older-onset iPSCs to compare against YOPD patients' samples.

Dr. Svendsen said it could be that the iPSCs from older-onset patients might yet be found with additional study to display abnormalities similar to those seen in YOPD.

Right now we only see it in young onset, he said. We may need to leave the cultures longer to see in the older-onset patients. We are doing those experiments now.

Drs. Tagliati and Svendsen disclosed that an intellectual patent is pending for diagnostic and drug screening for molecular signatures of early-onset Parkinson's disease. Dr. Ikeda is a co-founder of AcuraStem Inc. Dr. Brundin has received commercial support as a consultant from Renovo Neural, Inc., Lundbeck A/S, AbbVie, Fujifilm-Cellular Dynamics International, Axial Biotherapeutics, and Living Cell Technologies. He has also received commercial support for research from Lundbeck A/S and Roche and has ownership interests in Acousort AB and Axial Biotherapeutics. Dr. Baptista had no disclosures.

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Molecular Signature of Young-Onset Parkinson's Disease Is... : Neurology Today - LWW Journals

Netherton syndrome, a rare skin disease caused by a single genetic mutation, is exacerbated by the presence of two common Staphylococcal bacteria living on human skin, one of which was previously thought to only offer protective properties, report University of California San Diego School of Medicine researchers.

Our study shows how closely tied the human genome is to the genetic information in our skin microbiome. This rare disease is due to a mutation in a human gene. But, in adults, the symptoms of the disease are driven by the skin microbiome, said senior author Richard Gallo, MD, PhD, Irma Gigli Distinguished Professor and chair of the Department of Dermatology at UC San Diego School of Medicine.

The two genomes work closely together. When one is off, even by a single gene, the other genome reacts.

In a multi-institutional study published online in Cell Reports on March 3, 2020, Gallo and collaborators identified how Staphylococcus aureus and Staphylococcus epidermidis can act as a catalyst for skin inflammation and barrier damage in mouse models.

S. aureus is a pathogenic bacteria known to aggravate skin conditions, such as atopic dermatitis. When it becomes resistant to antibiotics, it is known as methicillin-resistant Staphylococcus aureus or MRSA. It is a leading cause of death resulting from infection in the United States.

Conversely, S. epidermidis is common on healthy human skin and presumed benign. In a previous study, Gallo reported that a specific strain of this bacterium seemed to hold a protective property by secreting a chemical that kills several types of cancer cells but does not appear to be toxic to normal cells. S. epidermidis was also known to promote wound repair, skin immunity and limit pathogen infections. It was not known that, in some cases, S. epidermidis can have pathogenic effects.

Netherton syndrome is a result of a mutation in the SPINK5 gene, which normally provides instructions for making a protein called LEKT1. This protein is a type of protease inhibitor.

With the loss of LEKT1, excess proteases are stimulated by Staphylococcal bacteria on people with Netherton syndrome. This protease activity leads to a breakdown of proteins and skin inflammation.

This is a major breakthrough for these patients as it describes how we can treat a human genetic mutation by targeting the microbiome, said Gallo, who is also a faculty member in the Center for Microbiome Innovation at UC San Diego. Altering bacterial gene expression is much easier than trying to fix a mutation in humans.

Researchers swabbed the skin of 10 people with Netherton syndrome and found that their skin microbiome had an abundance of certain strains of S. aureus and S. epidermidis. However, unlike the skin of normal subjects, the excess bacteria produced genes that could not be controlled due to the gene mutation in Netherton syndrome.

According to the National Institutes of Health, most people with this recessive inherited genetic disorder have immune system-related problems, such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema. It is estimated that 1 in 200,000 newborns are affected.

In addition to demonstrating how an abnormal skin microbiome promotes inflammation in Netherton syndrome, this study provides one of the most detailed genomic descriptions to date of the skin microbiome, said Gallo.

Co-authors include: Michael R. Williams, James A. Sanford, Livia S. Zaramela, Anna M. Butcher and Karsten Zengler of UC San Diego; Laura Cau, of UC San Diego and SILAB; Shadi Khalil, of UC San Diego and University of Virginia School of Medicine; Yichen Wang and Alain Hovnanian of Imagine Institute and Universit Paris Descartes-Sorbonne Paris Cit; Drishti Kaul and Christopher L. Dupont of J. Craig Venter Institute; and Alexander R. Horswill of Department of Veterans Affairs Denver Health Care System and University of Colorado Anschutz Medical Campus.

Funding for this research came, in part, from the National Institutes of Health (R37AI052453, R01AR076082, R01AR074302 and R01AR069653) and the Atopic Dermatitis Research Network (U19 AI117673).

Disclosure: Gallo is a co-founder, scientific advisor, consultant, and has equity in MatriSys Biosciences and is a consultant, receives income, and has equity in Sente. All other authors declare no competing interests.

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Presence of Staph Bacteria in Skin Microbiome Promotes Netherton Syndrome Inflammation - UC San Diego Health

The Stanford Medicine Clinical Virology Laboratory launched a new diagnostic test for detecting coronavirus on Wednesday. The new test, which can deliver results within 12 to 24 hours, will rapidly identify infected people and could help limit the spread of the virus.

The test is currently in use only on patients at Stanford Health Care and Stanford Childrens Health suspected of having the SARS-CoV-2 virus. The test was validated by the Food and Drug Administration (FDA) and Clinical Laboratory Improvement Amendments (CLIA) for testing involving human subjects.

The lab that developed the test is led by Benjamin Pinsky, associate professor of pathology and infectious diseases at the Stanford School of Medicine.

Testing is essential because it helps to identify both asymptomatic carriers and infected people, Pinsky told The Daily. These results then inform treatment, quarantine and the allocation of vital medical resources.

The sooner we know a patient is positive, the sooner we can take the right action to provide care and take steps to ensure the safety of people they came into contact with, whether thats health care providers or the patients loved ones, Pinsky wrote in an email to The Daily.

According to the Stanford Medicine News Center, it is not yet clear how long a patient needs to be infected before testing positive and whether someone not yet showing symptoms could test positive.

While the situation continues to evolve, rapid identification of infected people could help limit the spread of the virus, Pinsky wrote. Public health experts have indicated that prompt identification and quarantine of infected people is critical to limiting the spread of the virus.

Pinsky and his team began developing the test in late January, as they worked to optimize previous coronavirus tests for current U.S. testing guidelines.

The test uses a technique called real-time RT-PCR to detect the presence of genetic material in samples obtained from nasal swabs of potentially infected people, Pinsky wrote.

He added that the test screens for two viral genes.

The first encodes a protein called an envelope protein, which is found in the membrane that surrounds the virus, Pinsky wrote. It then confirms the positive result by testing for a gene encoding a second protein called RNA-dependent RNA polymerase.

The release of this test comes on the heels of an announcement from the Federal Drug Administration (FDA) that now allows in-house diagnostic testing without FDA approval. Previously, all nasal swabs had to be sent to public health agencies for further testing.

The release also came one day before Stanford President Marc Tessier-Lavigne confirmed that Stanford Medicine is currently caring for a few patients who have tested positive for COVID-19 in a statement to the University community on Thursday.

Our hospitals and clinics on campus provide essential health care for the people of our region, Tessier-Lavigne wrote.

This article has been corrected to reflect the correct technique used by the test to detect genetic material. The Daily regrets this error.

Contact Emma Talley at emmat332 at stanford.edu and Ujwal Srivastava at ujwal at stanford.edu.

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Stanford-developed coronavirus test to be used at Stanford Hospital - The Stanford Daily

Maggie L. Shaw

Evolution. Disruption. Innovation. Telemedicine. A virtual exchange of information. Healthcare has lagged behind in these aspects, but its necessary to transcend time and distance, according to Susan Dentzer, senior policy fellow at the Duke-Margolis Center for Health Policy.

Dentzer spoke passionately about elevating the quality of cancer care delivery by changing the system and asking these questions:

Her biggest question of all: for healthcare that mainly involves exchanges of information, not the laying of hands, why isnt more of it done virtually today? Especially when study results show high levels of patient satisfaction, higher quality of life, less depression, and less stress with telehealth and tele-oncology.

According to Dentzer, its time to think outside the box, incorporating data and technology to elevate cancer care delivery. And she provided a telling question from her friend A. Mark Fendrick, MD, co-editor in chief of The American Journal of Managed Care, that illustrates how despite advancements in cancer care, obstacles to optimizing its delivery remain: Why do we have Star Wars medicine on a Flintstones delivery platform. Shouldnt we at least advance to The Jetsons?

What many dont realize is that telemedicine, at least the idea of it, has been around for decades. Since the late 1960s. During her presentation, Dentzer told of how Kenneth D. Bird, MD, a former internist and pulmonary specialist at Massachusetts General Hospital, developed the first telemedicine system between Logan Airport and Mass General in 1968, with a second link in 1970. However, the system was abandoned in the 1970s.

A common theme that ran throughout her presentation was that its time for healthcare and cancer care to move outside the conventional walls of practices. To not be afraid of innovation. To move closer to patients where they are in their homes and communities. To elevate the quality of cancer care to such a level that it minimizes the amount of time people have to be in the hospital. But doing so first means addressing several important challenges:

So, what can we do? What are some examples of where opportunities to innovate in medicine lie?

Tele-oncology. This has already been shown to improve access to care and decrease costs, Dentzer noted. And with oral cancer drugs and immunotherapies being delivered on an outpatient basis in some instance, tele-oncology can help in this space by providing remote supervision of chemotherapy, thereby preventing unnecessary trips to the hospital or doctors office.

For example, Boston Universitys Biomedical Optical Technologies Lab (BOTLab) has developed a wearable probe, now in clinical trials, that uses near-infrared spectroscopy to measure hemoglobin, metabolism, water, and fat levels in tumors. The University of Arizona created its telemedicine program in 1996 and introduced tele-mammography between rural locations and the university in the early 2000s; womens images from a remote location are analyzed within 45 minutes at the university. Lastly, in 1995, Kansas University Medical Center instituted its first tele-oncology program with a multidisciplinary team that is 250 miles from a rural medical center, which itself has nurses.

Tele-genetics. Abramson Cancer Center in Philadelphia, Pennsylvania, offers genetic counseling in real-time, which can be accessed over the phone or through video conference. As this is a service that is not easy to always access, especially when patients are hundreds of miles away, making the counseling more portable can only serve to increase access to care.

Symptom management. Because not all patients need to be seen in the clinic, Seattle Cancer Care Alliance provides a web portal through which they can enter symptoms, and this will send an alert to their care team. And that alert leads to a phone call.

Provider education in immuno-oncology. This is especially needed foremergency medicine physicians. Telemedicine can increase engagement and communication between experienced oncologists and emergency medicine physicians who may have limited knowledge of immunotherapies and their adverse effects. It also provides opportunities for online learning and 24/7 access to critical care information.

Access to clinical trials. Denzler pointed out that almost 8 of 10 clinical trials can be delayed, even closed, because recruitment takes too long. Telemedicine can remedy this by expediting patients access to clinical trials through automated platforms.

I would argue that the status quo is not an option. You need to take advantage of these capabilities really fast, Dentzer noted.

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Thinking Outside the Box to Elevate, Increase Access to Cancer Care - AJMC.com Managed Markets Network

Copy Cat was born Dec. 22, 2001.

Texas A&M College of Veterinary Medicine & Biological Sciences

CC, the worlds first cloned cat, has passed away at the age of 18 after being diagnosed with kidney failure.

CC, short for Copy Cat, passed away on March 3 in College Station, the same place where her life began as a result of groundbreaking cloning work done by Texas A&M University College of Veterinary Medicine & Biomedical Sciences (CVM) researchers.

CC was born Dec. 22, 2001, and was adopted by Dr. Duane Kraemer, a senior professor in the colleges Reproduction Sciences Laboratory, and his wife, Shirley, six months after her birth.

We in the CVM are saddened by the passing of CC. As the first cloned cat, CC advanced science by helping all in the scientific community understand that cloning can be effective in producing a healthy animal, said Dr. Eleanor M. Green, the Carl B. King dean of veterinary medicine at Texas A&M.

While she lived a long, normal, and happy life, CC was extraordinary in what she represented to the Kraemers, the CVM, and science as a whole, Green said. The entire CVM community mourns her loss, as all at Texas A&M cared deeply about her as a member of the Aggie family, and especially for the Kraemers, for whom CC was a beloved pet for 18 years.

CCs story began with Dr. Mark Westhusin, a CVM professor and the principal investigator of the Missyplicity Project, a $3.7 million effort to clone a mixed-breed dog named Missy that was owned by John Sperling, founder of the University of Phoenix.

When the news of the project spread, people around the country became interested in saving pets tissues that could possibly be used for cloning in the future. This demand resulted in the establishment of Genetic Savings and Clone (GSC), Inc., led by Sperlings colleagues Lou Hawthorne and Dr. Charles Long.

While GSC became a bank for these tissues, Westhusin and his team at Texas A&M began to explore the cloning of other pet species, specifically cats.

CC was produced using nuclear transfer of DNA from cells that were derived from a female domestic shorthair named Rainbow.

Copy Cat was adopted at six months old by Dr. Duane Kraemer, a senior professor in Reproduction Sciences Laboratory, and his wife, Shirley, six months after her birth.

Texas A&M College of Veterinary Medicine & Biological Sciences

Once it was clear the nuclear transfer was successful, Kraemer and other scientists transferred the embryos into a surrogate mother, who gave birth to a healthy kitten about two months later.

Though the cats were identical on a genetic level, developmental factors led them to have slightly different coat patterns and color distributions.

CCs passing makes me reflect on my own life as much as hers, Westhusin said. Cloning now is becoming so common, but it was incredible when it was beginning. Our work with CC was an important seed to plant to keep the science and the ideas and imagination moving forward.

CC also became one of the first cloned cats to become a mother. When CC was five years old, she gave birth to three kittens that lived with her for the rest of her life in a custom, two-story cat house in the Kraemers backyard.

CC was the biggest story out of A&M ever and still is, as far as international reach is concerned, Kraemer said. Every paper and magazine had pictures of her in it. She was one of the biggest accomplishments of my career.

While CC represented a great advancement in genetic research, to the Kraemers, she was also a beloved pet. She will be missed by them especially, but also by those at the CVM, Texas A&M and beyond who have followed her story since birth.

CC was a great cat and a real joy, Kraemer said. She was part of the family and very special to us. We will miss her every day.

Throughout her lifetime, CC regularly made news for her birth, pregnancy and each birthday. She proved to the world that cloned animals can live the same full, healthy lives as non-cloned animals, including being able to produce healthy offspring.

Before CC, no pet had ever been successfully cloned with 100 percent genetic identity.

The research that led to CCs birth kickstarted a global pet cloning industry led by ViaGen Pets, which today clones cats for $35,000 and dogs for $50,000.

Though CC was the first successfully cloned pet, Texas A&M has gone on to clone more species than any other institution in the world, including horses, pigs, goats, cattle and deer.

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World's First Cloned Cat Dies - Texas A&M University Today

Some analysts predict the emerging science of cultured meat -- aka lab meat or synthetic meat -- could threaten the market share of "plant-based meat" producers like Beyond Meat (NASDAQ:BYND), Impossible Foods, and others in the near future. Growing meat separate from an animal might possibly solve the ethical, environmental, and culinary issues of meat and meat substitutes in one fell swoop. But while Fools investing in food stocks centered on plant-based meat may wonder whether lab meat threatens their portfolio's value, other evidence suggests it might be a proverbial "nothingburger" after all.

People first thought about cultured meat in the 1930s, and scientists grew the first meat outside an animal in the early 1970s. However, methods are just now getting sophisticated enough to produce affordable, high-quality lab meat.

To grow cultured meat, scientists place animal cells (muscle stem cells, fat cells, and collagen) in a nutritional medium inside a bioreactor where they can multiply. Artificial circulation carries nutrients and oxygen to the multiplying cells. The overall process is called "cellular agriculture."

Producing meat while avoiding the death of living animals is cellular agriculture's primary attraction for many people. Scientists also believe it's possible to make the meat healthier while growing it, raising protein content, lowering saturated fat levels (possibly to zero), and enhancing its vitamin content. Proponents also cite cultured meat's environmental benefits, since it doesn't require land deforestation to make space for grazing land, involves far lower water inputs, and might release fewer greenhouse gases.

Image source: Getty Images

Based on these factors, some analysts expect explosive growth in lab meat once it's launched in the next few years. A.T. Kearney projects a compound annual growth rate (CAGR) of 41% for cultured meat between 2025 and 2040, capturing 35% of the global meat market by 2040. During the same period, they predict 9% CAGR for plant-based meats. Additionally, plant-based meat growth is front-loaded in their model, slowing rapidly and gaining less than 0.5% annually closer to 2040, for a total 25% market share. Conventional meat, in their projection, will experience negative growth, shrinking at 3% annually and dwindling to 40% of the market.

Cultured meat is still too expensive for mass appeal or budgets, but its price trajectory over the past few years shows an exponential drop as technology rapidly improves. In 2013, Professor Mark Post produced the first fully cultured hamburger for slightly more than $300,000, or $1.2 million per pound. By 2017, four years later, Memphis Meats grew chicken meat via cellular agriculture for $9,000 a pound, slashed to $1,000 per pound the following year. One year after that, in 2019, Aleph Farms managed to create lab beef for $100 per pound.

Commercial production of cultured meat appears from these figures to be on the cusp of feasibility. The first lab meats may feature on restaurant menus or perhaps specialized grocery shelves in 2020 or 2021. Simply producing the meat at an affordable price doesn't ensure its dominance over standard meat or plant-based meats, though. Lab meat still needs to prove how it stacks up against these established alternatives.

Plant-based meats and cultured meat will probably go head to head in three main areas to determine which will win the biggest market share: ethics, environmental impact, and flavor. While lab meat has strengths in each of these areas, plant-based meats have also come a long way from the limp, tasteless, poorly textured soy patties of yore. Some of lab meat's advantages might not be as large as certain analysts paint them.

When it comes to ethical considerations, it's very difficult to measure potential changes in consumer preference, especially among vegans and vegetarians. Nevertheless, plant-based meats appear to have an unassailable advantage in this area. Since they are made of plant ingredients, they are fully vegetarian and vegan. Cultured meat, on the other hand, still carries potential ethical baggage from the viewpoint of vegans.

Nevertheless, lab meat could potentially capture some of the vegan market among those less concerned with deeper ethical questions, and who simply object to killing animals. Similarly, some people who currently eat meat might switch to lab meat, preferring a "killing-free" alternative even if they'll eat standard meat in the absence of cultured substitutes. Lab meat could also potentially make market inroads in so-called "mixed" households where meat-eaters and vegans live together, helping make the "carnists'" dietary preferences less objectionable to the vegans.

According to Piplsay research, 15% of Americans have tried plant-based meat substitutes because they wanted to go vegan or vegetarian, but wanted a way to sate their meat cravings. Though nowhere near a precise analog, this statistic might give a vague clue about the minimum percent of vegans who might be expected to try lab meat.

Cultured meat advocates cite the eco-friendly nature of their product, which uses much less water and land than livestock farms while moderately reducing energy use. However, according to research carried out jointly by Impossible Foods and Quantis, plant-based meats offer practically identical environmental benefits -- though that study did not measure energy use:

Assuming this data is accurate, lab meat -- while certainly far "greener" than conventional meat -- holds no environmental edge over plant-based meats.

Taste, texture, "mouthfeel," practical use in meat-based recipes, and other measures related to the culinary appeal of meat substitutes are the third area where lab meat needs to prove itself competitive. Where early soy patties were once disgusting to many people, with a flavor quite unlike meat, unpleasant texture, and failure to match the appetizing qualities of actual meat, today's plant-based meats are built to emulate the experience of eating meat as closely as possible.

Beyond Meat, Impossible Foods, and other makers are pouring dollars into plant-based meat research and innovation, making their products as close to meat as possible. Traits engineered into the plant-based meats include correct firmness, juiciness, darkening from pink to brown as they cook, and even "bleeding" for those who want a rare burger or steak.

According to taste testers from Food & Wine, at least, the wizards in Beyond's and Impossible's labs have largely succeeded, very closely imitating the taste of actual meat, creating suitably crumbly burgers that taste right with condiments and match up to the correct texture and juiciness. Other brands are less successful, tasting more like "veggie burgers" than meat.

As far as lab meat is concerned, those who have tried it and reported on the experience say that it tastes rather like chicken or beef found in McDonald's food. While some people might judge that a somewhat dubious recommendation, lab meat will likely hold its own alongside standard burgers and chicken, and the better plant-based meats. We'll need to wait and see whether that's significant enough to make a difference when plant-based alternatives taste much the same.

While commercial cultured meat is clearly coming soon, Beyond Meat and Impossible Foods can probably rest easy as long as they don't get complacent. Their products already closely emulate the experience of eating meat, while avoiding all the ethical issues and matching cellular agriculture one-for-one in terms of eco-friendliness.

Lab meat, once cheap enough for common consumption and improved enough to have culinary appeal, will undoubtedly win over some converts. Some vegans may want to return to the experience of eating "real" meat without the guilt, while some meat-eaters will prefer killing-free meat even if they're not willing to go to extent of eating plant substitutes in order to get it. Mixed households might find it useful for keeping the peace in the kitchen while still giving everyone the dietary items they want.

However, cultured meat's rise to dominance, as predicted by some analysts, seems a somewhat improbable scenario. Plant-based meats got there first, offer the same eating experience, and lack some of cultured meats' lingering downsides. Beyond Meat, Impossible Foods, and other plant-based meat producers will likely enjoy strong long-term viability despite cellular agriculture and, if its upsurge appears strong enough, they may have the cash on hand to simply acquire some of the best new brands and use their existing infrastructure to turn them into an even bigger success.

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Will Beyond Meat and Impossible Foods Survive Lab Meats Challenge? - Motley Fool

Stem cell research has been the subject of discussion and heated debate for many years. Much of the social and political drama surrounding stem cells is the result of misunderstanding what stem cells are, where they come from, and what they can do for those with injuries and diseases.

Working from a common set of facts is a great way to dispel controversy, however. Whether we fall into the pro-choice or pro-life camp, it is more than evident that supporting stem cell research, including the development of stem cell therapies, is very much a pro-life position to take.

Stem cells function essentially like raw materials for the body. Depending on instructions from the body (or researchers in laboratories), stem cells can become many other types of cells with specialized functions.

The daughters of stem cells either become new stem cells (self-renewal) or they become more specialized cells for use in specific areas of the body (differentiation). These specialized cells include brain cells, heart muscle cells, bone cells, blood cells and others.

There are several reasons why stem cells are the focus of some of the most important medical science research today:

This last avenue of medical research stem cell therapies is the most consequential as well as the most controversial, depending on your point of view. Understanding stem cell therapy and its divisiveness requires understanding where stem cells come from in medical research and why they have considerable palliative potential.

Stem cells come from one of these three sources:

Embryonic stem cells are the most controversial as well as the most important type of stem cells right now. Thanks to a low-information electorate and gross misinformation from within the government, embryonic stem cells remain mired in needless debate.

Despite the rhetoric, these cells arent harvested from slain newborns. Instead, they are carefully gathered from blastocysts. Blastocysts are three-to-five-day-old embryos comprised of around 150 cells. According to some religious-political arguments, blastocysts are potential human beings, and therefore deserve legal protection.

Embryonic stem cells are the most valuable in medical research because they are fully pluripotent, which means they are versatile enough to become any type of cell the body requires to heal or repair itself.

Adults have limited numbers of stem cells in a variety of bodily tissues, including fat and bone marrow. Unlike pluripotent embryonic stem cells, adult stem cells have more limits on the types of cells they can become.

However, medical researchers keep uncovering evidence that adult stem cells may be more pliable than they originally believed. There is reason to believe cells from adult bone marrow may eventually help patients overcome heart disease and neurological problems. However, adult stem cells are more likely than embryonic stem cells to show abnormalities and environment-induced damage, including cell replication errors and toxins.

The newest efforts in stem cell research involve using genetic manipulation to turn adult stem cells into more versatile embryonic variants. This could help side-step the thorny abortion controversy, but its also not clear at present whether these altered stem cells may bring unforeseen side-effects when used in humans.

More research is required to fully understand the medical potential of perinatal stem cells. However, some scientists believe they may in time become a viable replacement for other types of stem cells. Perinatal stem cells come from amniotic fluid and umbilical cord blood.

Using a standard amniocentesis, doctors can extract umbilical cord mesenchymal stem cells, hematopoietic stem cells, amniotic membrane and fluid stem cells, amniotic epithelial cells and others.

Among other things, stem cell therapy is the next step forward for organ transplants. Instead of waiting on a transplant waiting list, patients may soon be able to have new organs grown from their very own stem cells.

Bone marrow transplants are one of the best-known examples of stem cell therapy. This is where doctors take bone marrow cells and induce them to become heart muscle cells.

Stem cell-based therapies hold significant promise across a wide range of medical conditions and diseases. With the right approach, stem cells show the potential to:

As the FDA notes, there is a lot of hype surrounding stem cell therapy. Much of it is warranted, but some of it deserves caution.

According to the FDA, stem cells have the potential to treat diseases or conditions for which few treatments exist. The FDA has a thorough investigational process for new stem cell-based treatments. This includes Investigational New Drug Applications (IND) and conducting animal testing.

However, the FDA notes that not every medical entity submits an IND when they bring a new stem cell therapy to market. It is vital that patients seek out only FDA-reviewed stem cell therapies and learn all they can about the potential risks, which include reactions at the administration site and even the growth of tumors.

The FDA submitted a paper, Clarifying Stem-Cell Therapys Benefits and Risks, to the New England Journal of Medicine in 2017. Its goal is to help patients fully understand what theyre getting themselves into.

For now, a great deal more research is required before we begin deploying stem cell therapies on a larger scale. The only FDA-approved stem cell therapies on the market today involve treating cancer in bone marrow and blood. Some clinics claim their therapy delivers miracle-like cures for everything from sports injuries to muscular dystrophy, but there just isnt enough evidence yet to take them at face value.

Unfortunately, the religious and political climate makes this evidence difficult to achieve. In some parts of the United States, the hostility toward stem cell researchers and medical practitioners has reached dangerous new levels.

Republicans in Ohio and Georgia want to make it illegal for doctors to perform routine procedures on ectopic pregnancies. This condition is life-threatening for the mother and involves the removal of a nonviable embryo from the fallopian tube.

These laws wouldnt just outlaw ectopic pregnancy surgery in the name of potential human life. It would, in fact, require women to undergo a reimplantation procedure after the ectopic pregnancy is corrected by a physician. If this procedure was actually medically possible, it would be dangerous and unnecessary. Thankfully, it doesnt exist outside the nightmarish imaginations of some of the more extreme Christian lawmakers and Planned Parenthood demonstrators.

Acquiring embryonic stem cells from ectopic pregnancies would seem to be the least controversial way to go about it. Unfortunately, even that small step toward medical progress sees itself hampered by reactionary politics.

No matter how theyre acquired, however, the 150 or so cells in blastocysts are packed with medical potential. Its clear that further exploration down this road will unlock unprecedented scientific progress. It will also, almost certainly, save many times more potential life than even the most outlandish estimates of what the achievement will cost us to achieve. Abortions today are rarer and safer than ever, and the vast majority occur within eight weeks of conception.

The medical community is poised for a revolution here, using these and other nonviable embryos and blastocysts. But realizing that potential requires, among other things, that we collectively make peace with modern medicine and family planning.

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Despite Pro-Life Claims, Stem Cell Therapy Has Very Real Benefits and Should Be Accessible - Patheos

The biopharma space has stepped up its efforts to both prevent and treat the coronavirus (SARS-CoV-2) that is threatening to bring the world to its knees.

A month is a very long time when it comes to infectious diseases. The first cases and deaths from the novel coronavirus (COVID-19) led to a response to contain the virus, but the difficulties of containment and the nature of international travel means cases and deaths have become global.

The latest statistics place the number of cases at 95,483 and deaths at 3,286 across 84 countries, though by the time you are reading this the number is likely to have skyrocketed.

So as the world tilters on the edge of a pandemic, we take a look at how industry is responding. There is no specific treatment for the virus, nor a vaccine, but a proactive response is seeing the pharma industry throw everything in its arsenal at attempting to stymie this global threat.

First off, vaccines. As the World Health Organization (WHO) states it can take a number of years for a new vaccine to be developed, it has not stopped companies and academia stepping up their R&D efforts.

Both Sanofi and J&J have separately teamed up with the US Department of Health and Human Services (HHS) to expediate vaccine development.

Sanofi Pasteur aims to reverse engineer proteins isolated from the virus to produce DNA sequences, which will then be mass produced using Sanofi Pasteurs baculoviral expression system and formulated into a vaccine that elicits an immune response. Well that is the aim.

Johnson & Johnsons unit Janssen Pharmaceutical, meanwhile, is reviewing products in development for Middle East Respiratory Syndrome (MERS) or Severe Acute Respiratory Syndrome (SARS), to identify promising candidates for the novel coronavirus, and aims to upscale production and manufacturing capacities, leveraging its AdVac and PER.C6 technologies.

Another Big Vaccine company, GlaxoSmithKline, has teamed with Chinese biotech Clover Biopharmaceuticals to help develop a preclinical protein-based vaccine candidate. GSK will provide its pandemic adjuvant system for further evaluation of Clovers S-Trimer, a trimeric SARS-CoV-2 spike (S)-protein subunit vaccine candidate produced using a mammalian cell-culture based expression system.

Inovio Pharmaceuticals has also entered the race, and like GSK has teamed up with a Chinese company. Together with Beijing Advaccine Biotechnology and a grant of up to $9 million from the Coalition for Epidemic Preparedness Innovations (CEPI), Inovio hopes to bring its DNA vaccine candidate INO-4800 rapidly into clinical trials. VGXI a subsidiary of GeneOne Life Science has been selected to manufacture the DNA vaccine from its facilities in The Woodlands, Texas.

Thegenome sequence for 2019-nCoVwas published on January 10, 2020, a VGXI spokesperson recently toldBioprocess Insider. This DNA sequence information is used by Inovio and their collaborators at the Wistar Institute to design a synthetic DNA plasmid for manufacturing at VGXI. No viral particles or proteins are involved in the manufacturing process. When delivered as a vaccine, the DNA plasmid can elicit a protective immune response.

RNA vaccines are also being investigated. Moderna Therapeutics recently shipped the first batch of its investigational messenger RNA vaccine mRNA-1273 to the National Institute of Allergy and Infectious Diseases (NIAID) for use in a Phase I study. The vaccine is designed to train the immune system to recognize cells invaded by the coronavirus.

Moderna also received a grant from CEPI, as has CureVac, which is looking to use its mRNA vaccine platform to expedite a candidate into trials. CureVacs technology and mRNA platform are especially suitable to rapidly provide a response to a viral outbreak situation like this, said CureVac CTO Mariola Fotin-Mleczek. Currently, we are in the process of developing a vaccine that, after successful preclinical tests, could be tested rapidly in humans in a clinical study.

But industry could be pipped to the clinical trial post by academia, with Israels MIGAL Research Institute claiming to be sitting on a human vaccine against COVID-19 as a by-product of a vaccine it has developed against avian coronavirus Infectious Bronchitis Virus (IBV).

From research conducted at MIGAL, it has been found that the poultry coronavirus has high genetic similarity to the human COVID-19, and that it uses the same infection mechanism, a fact that increases the likelihood of achieving an effective human vaccine in a very short period of time, the Institute says.

According to MIGALs Biotechnology group leader Chen Katz, the vaccine is based on a new protein expression vector, which forms and secretes a chimeric soluble protein that delivers the viral antigen into mucosal tissues by self-activated endocytosis a cellular process in which substances are brought into a cell by surrounding the material with cell membrane, forming a vesicle containing the ingested material causing the body to form antibodies against the virus.

Other pharma companies are looking to treat coronavirus, rather than prevent.

Regeneron has teamed with the HHS to use its VelociSuite technologies to identify and validation and develop preclinical candidates and bring them to development, having followed a similar approach to advance its investigational Ebola treatment REGN-EB3.

The tech platform includes the VelocImmune mouse technology, a genetically modified strain in which genes encoding mouse immune system proteins have been replaced by their human equivalents.

The life-saving results seen with our investigational Ebola therapy last year underscore the potential impact of Regenerons rapid response platform for addressing emerging outbreaks, said George Yancopoulos, Regeneron CSO. Our unique suite of technologies expedites and improves the drug discovery and development process at every stage, positioning Regeneron to respond quickly and effectively to new pathogens.

Meanwhile this week, Takeda announced it is looking to a therapy to target COVID-19 based on polyclonal hyperimmune globulin (H-IG). The candidate, TAK-888, aims to concentrate pathogen-specific antibodies from plasma collected from recovered patients. Initially, due to a lack of current donors, the firm will produce the therapy in a segregated area within its manufacturing facility in Georgia.

The Japan-headquartered firm will also review its current pipeline for any other viable candidates to take on COVID-19.

Such an approach has aided Gilead Sciences efforts. The firm has begun two Phase III clinical studies of its antiviral candidate remdesivir, developed (though never approved) to treat Ebola virus. It has also shown promise against other infectious diseases including Marburg, MERS and SARS.

This is an experimental medicine that has only been used in a small number of patients with COVID-19 to date, so Gilead does not have an appropriately robust understanding of the effect of this drug to warrant broad use at this time, Gilead said.

With about 1,000 patients set to be tested with remdesivir, Gilead has turned to a stockpile manufactured in response to Ebola to address present coronavirus needs, and in anticipation of expanded use is manufacturing two formulations of remdesivir, in both liquid and freeze-dried forms, while upping capacity and production internally and externally.

According to San Marinos Bioscience Institute SpA, a regenerative medicine center and stem cell production facility, mesenchymal stem cells could potentially be treatment for the novel coronavirus by improving lung microenvironment, inhibiting immune system overactivation, promoting tissue repair, protecting lung alveoli epithelial cells, preventing pulmonary fibrosis, and improving lung function.

The company, citing the Chinese open repository for scientific researchers chinaXiv.org , says at least 14 trials are taking place in China using stem cells to treat coronavirus patients after positive animal testing showed stem cells might be able to repair the severe organ damage caused by the virus.

The firm even reports that a critically ill 65-year-old Chinese woman infected with SARS-CoV-2, whose conditions significantly improved after the infusion of mesenchymal stem cells.

If mesenchymal stem cells do prove to be the solution to the potential coronavirus crisis, Bioscience Institute alludes to the advantage that they are obtained from fat cells.

That means that everyone can utilize his/her cells, eliminating any contamination or rejection risk, said Giuseppe Mucci, CEO of Bioscience Institute.

But expanding them to the quantity needed for infusion, that corresponds to at least 1 million cells per kg of weight, takes 2 to 3 weeks. That is why it is useful to cryopreserve a personal reserve of mesenchymal stem cells, that would allow to access an early, more successful, treatment.

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How industry hopes to take on COVID-19 - Bioprocess Insider - BioProcess Insider

It is the worlds biggest killer and yet we dont fully understand the leading cause behind it.

Cardiovascular diseases claimed an estimated 17.9 million lives in 2016 31 per cent of all deaths around the globe.

And 85 per cent of these were due to heart attacks and stroke, most commonly caused by a blockage of the arteries known as atherosclerosis.

Now an international team led by a Cambridge professor of cardiovascular medicine is competing for a 30million prize from the British Heart Foundation to unravel its secrets.

If they beat the other three shortlisted teams in the charitys Big Beat Challenge, they will create the worlds first 3D map of atherosclerosis at single cell resolution, giving unparalleled insight into this hardening or blocking of the arteries.

Prof Ziad Mallat, of the Department of Medicine at the University of Cambridge, tells the Cambridge Independent:We are excited about the prospect of this. We hope we have assembled the right team.

Atherosclerosis is very debilitating. If it happens in the arteries that supply the brain, it causes stroke. If it happens in the arteries supplying the heart, it causes heart attacks.

It is really common across the world. Every five minutes in the UK there is one heart attack and one stroke.

Why is this having such a huge impact on the quality of life of people? We believe something is not being treated or understood.

Clinicians currently treat the risk factors for the disease, which include high blood cholesterol, high blood pressure and diabetes.

What we dont do is really treat what causes the disease, which is the malfunctioning of the immune system, says Prof Mallat.

When you have high blood pressure or cholesterol, this injures the arteries. Initially, the immune system sends immune cells to the injured vessel to try to heal the artery.

However, what we know is that most of the time the immune system doesnt operate properly and this prevents the healing, and so the disease progresses.

We have good understanding of how this happens in pre-clinical models, like mouse models, but very limited understanding of how it happens in humans.

We think this is what is preventing doctors and scientists from finding a treatment that would transform the way patients are treated.

Through their iMap, as they are calling it, Prof Mallat and the team of global experts he has assembled want to understand what is happening in the accumulations, known as plaques, that block the arteries and affect blood flow to the heart and other parts of the body. The plaques can be made up of fat, cholesterol, calcium and other substances.

These plaques obstruct the lumen [the interior space in the artery] and even burst into the lumen, leading to clot formation, which obstructs the blood flow. This causes the heart attacks and strokes, says Prof Mallat.

Our idea is to build the first 3D map of these fatty plaques, at

. We would like to know what each immune cell and each cell in the vessel wall is doing. What is its genetic make-up? What is its protein make-up? What is the fuel that it is using? Why, when the immune cell comes along to do a good job, does it stop doing it?

We want to interrogate each cell and work out how it is interacting and communicating with other cells.

Only with this 3D map of the plaques will we be able to understand what is happening inside. Once we have done this, we will be able to harness this knowledge to find new protective methodologies and therapies.

These therapies could harness the immune system, which raises the possibility of vaccinating against atherosclerosis.

If we understand how the immune cells react, we can use the information to re-educate them with vaccination, suggests Prof Mallat. If they are overreacting to fat components or protein components, we can educate them to make them do the right job when they see this in the arteries, to reduce the inflammation and limit the development of the disease.

The scale of this challenge, however, is vast and requires a multi-disciplinary approach.

It needs a lot of different expertise around the world, says Prof Mallat. You need good cardiologists, good molecular biologists, immunologists, mathematicians and computer scientists because the information will be huge and needs to be integrated together. You need people who know a lot about genomics, lipidomics and proteomics, so we have gathered world-leading experts in each of these areas to come together and look at this problem from every angle possible.

Among those helping Prof Mallat is Sarah Teichmann, from the Wellcome Sanger Institute at Hinxton, who is the co-founder of the global consortium working on the Human Cell Atlas a hugely ambitious and important project creating comprehensive reference maps of all human cells in the human body.

They are looking at the make-up of healthy organs, notes Prof Mallat. Some of the investigators are mapping some of the arteries and are looking at vascular cells like endothelial cells. It is intriguing but nobody else is looking at other cells in the artery. We are looking at both the healthy arteries and the diseased arteries. It is building on the work of the Human Cell Atlas.

Also on the team are experts from Imperial College London, Germany, France, Spain, the La Jolla Institute of Immunology in San Diego and from Icahn School of Medicine at Mount Sinai in New York.

Key to their work is the need for data and samples, and the group has multiple sources available.

We have organ donors from the Cambridge bio-repository and the clinical school at Mount Sinai, so we have access to healthy and diseased arteries from the same individuals.

We have access to blood from these individuals and to immune cells from other parts of the body, so we can compare what the immune cells are doing in different compartments.

The other source is from a cohort of thousands of individuals, through a collaboration with Professor Valentin Fuster in Madrid, who have been followed for more than 10 years, and they will be followed for another 10 years.

We have blood samples and microbiota from them. We also have access to imaging of their arteries. They are followed for cardiovascular outcomes, so if someone has a heart attack or stroke, it is documented.

We will be able to look at the ageing of the immune system in these individuals and how this correlates to changes in their arteries and the occurrence of disease.

All of this is being done at very high resolution, which has not been done before. Integrating the information from the genes, the proteins, the lipids and so on, to have a broad view, has never been possible.

There are parallels with the work being carried out at Cancer Research UK Cambridge Institute under Prof Greg Hannon, where the first virtual 3D tumour is being created using a multi-disciplinary team.

We are discussing with him how we can integrate some of the technologies he is developing. It will be fantastic to collaborate with him on this, says Prof Mallat.

What is known already is that our arteries are sensitive to changes in blood flow.

Even subtle perturbations in the micro-environment are sensed by the arteries and can be considered as a danger, explains Prof Mallat.

When it interprets this as a danger, it sends signals to the immune system to react. I would say this is happening almost continuously, and is aggravated of course when you have additional stimuli like high blood cholesterol or exposure to smoke.

While the use of imaging and monitoring of biomarkers is helping us diagnose atherosclerosis earlier, Prof Mallat describes this as not optimal, because we dont understand the disease in a comprehensive manner. A 3D map would aid diagnosis, prediction and prevention of disease, as well as opening up new therapeutic avenues.

Nobody knew 10 or 15 years ago that the immune system could play such a huge role in cancer, Prof Mallat points out. Now cancer immunotherapy is advancing enormously. We are convinced that atherosclerosis is highly motivated by the immune system but no-one is targeting the immune system to treat it. Thats why we want to understand it and we think this could really induce a revolution in our understanding and how we treat it.

Cambridge Cardiovascular to host events at Cambridge Science Festival

Visitors to Cambridge Science Festival will have a chance to find out more about the iMap project and the work of cardiovascular researchers.

Cambridge Cardiovascular, an umbrella group for the field, is involved in organising activities once again at this years festival, which runs from March 9 to 22.

At 6-7pm on Wednesday, March 18 at the Mill Lane lecture rooms in Cambridge, a talk titled More than a blocked pipe: The hardening of the arteries and their role in stroke and heart attacks will be delivered by Dr Nick Evans, of the Department of Medicine, and Prof Melinda Duer, of the Department of Chemistry.

At 6-7pm on Friday, March 20, also at Mill Lane lecture rooms, Dr Sanjay Sinha, of Cambridge Stem Cell Instituteand the Department of Medicine will discuss Mending broken hearts: stem cells for heart disease.

Then, from 11am to 4pm on Sunday, March 22, A View of the Heart will be on offer at the Cambridge Academy for Science and Technology, in Long Road, where cardiovascular scientists will help you explore the organ and visualise heartbeats.

Book at sciencefestival.cam.ac.uk.

The Big Beat Challenge

The British Heart Foundations 30million Big Beat Challenge is designed as the charitys moon-shot to propel our understanding of cardiovascular disease into a new era.

Some 75 applications were received from 40 countries following its launch in August 2018, and these have been whittled down to four, including the one led by Prof Mallat to map and treat atherosclerosis. The other ideas are:

Hybrid heart

Led by Jolanda Kluin, professor of translational cardiothoracic surgery at the University of Amsterdam in the Netherlands, this team plans to create a solution for heart failure by developing a soft robotic heart. They intend to design, build, test and implant a hybrid heart that consists of a soft robotic shell forming the soft artificial muscles and sensors to enable natural motion, and a tissue-engineered lining to make sure all the surfaces in contact with blood are safe. With wireless energy transfer, the vision is that this could replace the need for human heart transplantation.

Echoes

Led by Professor Frank Rademakers, chief medical technology officer at University Hospitals Leuven, Belgium, this team would develop wearable technology that can be used in daily life to capture more data than ever before. This information ranging from symptoms and physical activity to heart function and air quality could be used alongside genetic and healthcare data to transform diagnosis, monitoring and treatment of heart and circulatory diseases through the creation of a digital twin.

Cure heart

This project aims to provide a cure for inherited, killer heart muscle diseases. Led by Professor Hugh Watkins, BHF chair of cardiovascular medicine at the University of Oxford, these researchers will develop a treatment that targets and silences the faulty genes responsible for cardiomyopathies diseases of the heart muscle that can lead to sudden death at an early age. They intend to combine a deep understanding of underlying genetic mechanisms with new technologies, to stop the progression of the damage caused by genetic heart muscle diseases, or even reverse the damage.

Professor Sir Nilesh Samani, medical director at the British Heart Foundation, said: Heart and circulatory diseases remain the number one cause of death worldwide.

Were taking small steps forward every year but whats needed is a giant leap, which wont be achieved by a business-as-usual approach.

The Big Beat Challenge embodies our ambition to turbo-charge progress and could lead to its own man on the moon moment. I have absolutely no doubt the winning idea will define the decade in their area.

The teams will prepare their final applications by June 14, with interviews in early September and a decision expected by the end of the year.

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Prof Ziad Mallat leads Cambridge effort to win 30m to tackle leading cause of heart attacks and strokes - Cambridge Independent

Gene therapy has been used to treat a person with haemophilia for the first time in Ireland, a patient group has announced.

The Irish Haemophilia Society (IHS) confirmed on Thursday morning that the person received gene therapy as part of a clinical trial. IHS chief executive Brian OMahony said the treatment is a momentous occasion for the haemophilia community in Ireland.

The general term haemophilia describes a group of inherited blood disorders in which there is a life-long defect in the clotting mechanism of the blood.

Since the 1970s, haemophilia has been treated by the administration of intravenous infusions of the missing clotting factor. However, work done by companies and academic institutions has given new hope that an effective treatment could be based on gene therapy, the IHS said.

The clinical trial uses a viral vector to deliver gene therapy to the persons liver intravenously. In the past, viruses such as HIV and Hepatitis C decimated the haemophilia population in Ireland through contaminated blood. It is ironic that a virus could now be the delivery system which offers the best hope of a practical cure for severe haemophilia, Mr OMahony said.

It is hoped that the effect of the gene therapy infusion will last for many years and possibly for a lifetime.

The principal investigator on the trial in Ireland is Dr Niamh OConnell of the National Coagulation Centre in St. Jamess Hospital. She said the gene therapy was ground breaking.

The opportunity to participate in clinical trials is part of the commitment of the National Haemophilia Service to personalise treatment and to improve the quality of life and outcomes for people with haemophilia.

The study, which is being run by drug manufacturer UniQure, involves three Irish patients among a total of 60 around the world. There will be an intensive period of monitoring of effectiveness at first, followed by a longer term evaluation over five years. Only one treatment is administered to trial patients.

The particular gene therapy is focused on patients who are missing clotting factor IX, the second most-common type of haemophilia. Earlier results show that the level of clotting factor increased from 1 per cent - generally seen as severe haemophilia - to between 33 and 51 per cent in a small number of individuals treated, levels seen in mild cases or even amongst the non-haemophiliac population.

Professor Martina Hennessy of the Wellcome HRB Clinicial Research facility in St Jamess, where the gene therapy was infused, said that access to high quality research is an integral part of good healthcare because it raises standards and pushes the boundaries of what can be achieved.

Delivering gene therapy requires specialised training and equipment, we have been preparing with Dr OConnell and her team for over a year to undertake this exciting work, in partnership with the Irish Haemophilia Society. Other trials are planned, we hope this expertise leads other Irish patient groups also being able to access potentially life changing treatments in the future, she said.

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Gene therapy used in clinical trial for person with haemophilia - The Irish Times