StemCell Therapy

Dr. Gabe Mirkin

Sam Shepard was a prolific playwright, actor, screenwriter and director who:

acted in more than sixty films and was nominated for an Academy Award for Best Supporting Actor for his portrayal of pilot Chuck Yeager inThe Right Stuff;

wrote more than 55 plays, often focusing on the serious problems that occur in American family life;

won the most Obie Awards (10) for his off-Broadway writing and directing. In 1979 he received a Pulitzer Prize for his play, Buried Child, andNew York Magazinecalled him the greatest American playwright of his generation.

In his late sixties, he developed amyotrophic lateral sclerosis (ALS), the disease that killed baseball great Lou Gehrig at age 37. Shepard died from complications of ALS on July 27, 2017, at age 73.

A Difficult Life

Sam Shepard

He was born on November 5, 1943, in Fort Sheridan, Illinois. His dysfunctional family served as a basis for characters in many of his plays. His father was a United States Army Air Force bomber pilot during World War II who was also an alcoholic and an abusive husband and father. His loving, supportive mother, a teacher, offset some of the pain and abuse he suffered from his father. In his early years, the family had to move every two years because of army transfers. Later his father left the service and bought an avocado farm in Duarte, California. Shepard briefly studied animal husbandry at nearby Mt. San Antonio College, but soon left school to move to New York City, where he worked as a busboy, played in a psychedelic folk band and tried to break into the theater.

At age 35, his acting career took off when he won a role in Terrence MalicksDays of Heaven, with Richard Gere and Brooke Adams. At the same time, he continued to write successful plays and in 1986 (age 43) he was elected to the American Academy of Arts and Letters.

Amyotrophic Lateral Sclerosis (ALS or Lou Gehrigs Disease)

In his last few years, Shepard suffered privately from ALS, but he described his experience in his last book, The One Inside. One of the characters said that he couldnt get up from bed in the morning and felt as though his limbs werent connected to the motor driving his body. They wont take direction wont be dictated to the arms, legs, feet, hands. Nothing moves. Nothing even wants to. The brain isnt sending signals.

ALS is a progressive disease that destroys the nerves that move voluntary muscles. More than 6,000 people in the United States are diagnosed with ALS each year. Nobody knows the cause and there is no cure. The brain is supposed to send messages to nerves in the spinal cord which transmit messages to the nerves that move muscles. When a muscle loses its nerve control, it starts to twitch and can waste away to nothing. Early symptoms of ALS include

muscle weakness

twitching

slurred speech

inability to chew food

tripping or stumbling.

The first sign could be difficulty buttoning a shirt, writing, or turning a key in a lock. The disease usually does not affect a persons ability to think and reason, so affected people are terribly disturbed by their lack of ability to control their voluntary muscles. As the disease progresses, a person loses the ability to speak, eat, walk and eventually breathe. The most common cause of death is inability to breathe, which typically occurs about 3-5 years after symptoms start. Only about ten percent of affected people live more than ten years after first being diagnosed.

Risk Factors and Diagnosis

The disease usually starts between the ages of 55 and 75, but there are no known specific risk factors. Military veterans appear to be twice as likely as non-veterans to develop ALS. Possible causes could be exposure to occupational or environmental toxins such as lead or pesticides, infections or trauma. Family history does not appear to predict the disease.

There are no specific tests to diagnose ALS. It is usually diagnosed by a history of the symptoms, physical examination and ruling out other causes.

Current Treatments and Research

The U.S. Food and Drug Administration (FDA) has approved riluzole (Rilutek) and edaravone (Radicava) to treat ALS. These drugs offer no hope for a cure, but Riluzole appears to protect nerves by decreasing glutamate, the chemical messenger for nerves that innervate muscles. Intravenous edaravone possibly slows loss of muscle function, but it costs $1,086 per infusion or a yearly cost before government discount of $145,524. Another drug under European review is being developed by French drug maker AB Science SA (ABS.PA). Since there is no cure, all patients should receive physical therapy and speech therapy because inactivity itself causes loss of muscle function.

Since ALS is caused by the death of nerve cells that cause muscles to contract, the most promising line of research is through stem cells. Stem cells are young cells that can become any type of tissue. Treatment in the future may be to program stem cells to become nerve cells that innervate muscles and then inject them into areas where the nerve cells have already died.

Dr. Gabe Mirkin is a Villager. Learn more at http://www.drmirkin.com

Continued here:
Sam Shepard and Amyotrophic Lateral Sclerosis - Villages-News

As a college student at the University of Mount Union in Alliance, Ohio, Megan McMinn studied biology, hoping to one day become a physician's assistant.

But a desire to interact even more with patients led her down a different path in genetic counseling.

"What genetic counseling gave me was a good split between patient care and the hard science research end of things," McMinn said.

At Geisinger Health System in Danville, Pa., McMinn sees about six patients a day, working in oncology. Soon, she'll move onto a cardiology clinic, helping to identify genetic risks for individuals and potentially their families. The system currently has 25 genetic counselors on staff, but anticipates needing hundreds more as genetic testing becomes cheaper and more accessible.

The trend extends far beyond Geisinger, as the field has grown dramatically in the past decade, touching all aspects of health-care as medicine becomes more personalized.

"Genetics permeates everythingthere won't be enough genetic counselors to see every patient who gets genetic information," said Mary Freivogel, president of the National Society of Genetic Counselors (NSGC).

As a result, the Bureau of Labor Statistics projects the occupation will grow by 29 percent through 2024, faster than the average for all occupations

"I think [a genetic counselor] will become a key member of the team, discussing with patients and families what to do next, how to figure out how the genome is going to interact with your lifestyle and make decisions about what you want to do medically," said Dr. David Feinberg, president and CEO of Geisinger Health System.

Genetic counselors typically receive a bachelor's degree in biology, social science or a related field, and then go on to receive specialized training. Master's degrees in genetic counseling are offered by programs accredited by the Accreditation Council for Genetic Counseling, offered at some 30 schools in the U.S. and Canada, according to the NSGC.

Those who want to be certified as genetic counselors must obtain a master's degree from an accredited program, but do not need to be doctors.

The NSGC is also working to recruit new talent by doing outreach in middle and high schools to let younger students know the field is an option in the future. Pay is competitive as wellon average, counselors make around $80,000 a year, but that can increase up to $250,000 annually depending on specialty, location and expertise, Freivogel said.

Health insurance often pays for genetic counseling, and for genetic testing when recommended by a counselor or doctor. However, it's important to check with insurers before scheduling any tests as coverage levels vary. Cost also varies greatly, for example, as multi-gene cancer panels can range from $300 to $4,000 depending on the type of test, the lab used and whether the patient goes through his or her insurance or pays out of pocket.

And while at-home tests like 23andMe are typically less expensive, those taking them still need to see a genetic counselor to explain their results.

Part of the reason more counselors will be needed in the future at Geisinger is because the health system is home to the MyCode Community Health Initiative, one of the largest biobanks of human DNA samples of its kind, according to Amy Sturm, director of Cardiovascular Genomic Counseling at Geisinger. The project has consent from more than 150,000 patients to participate in having their entire DNA code sequenced and synced with their electronic medical records, to look for new causes of disease and different ways to treat conditions.

"We are figuring out and researching the best way to deliver this information back to our patients and also back to families with the ultimate goal of preventing disease and improving the healthcare system," Sturm said.

Keeping up with the latest in genomics, where new developments happen almost daily, can be a challenge. Yet counselors like McMinn say the ability to impact more than just the patient by studying the genome makes the job well worth it.

"We are able to bring to the forefront the fact that we're not just taking care of the patient, but we're taking care of the entire family," McMinn said.

Go here to read the rest:
Genetic counseling field to rapidly expand - CNBC

Credit: CC0 Public Domain

Northwestern Medicine collaborated with international colleagues in a study that identified two dozen new genes linked to lupus after analyzing genetic samples from over 27,000 individuals across the globe.

The study, published in Nature Communications, was co-authored by Rosalind Ramsey-Goldman, MD, DrPH, the Solovy/Arthritis Research Society Research Professor of Medicine in the Division of Rheumatology, part of a group of authors from more than 70 universities.

"These new observations will help direct future research to better diagnose and treat the disease while also providing insights into why lupus disproportionately affects certain ethnicities at higher rates and more severely," said Ramsey-Goldman, also a member of the Robert H. Lurie Comprehensive Center Cancer and Northwestern University Clinical and Translational Sciences Institute.

Systemic lupus erythematosus (SLE) is an autoimmune disease that predominantly affects women during their childbearing years, and is more common in African-American, Native American and Hispanic patients. In SLE, the immune system produces antibodies that cause inflammation and damage the body's own organs and tissues, but it can be difficult to diagnose because its symptoms are similar to those of other immune system diseases.

The study revealed 24 genomic regions that contribute to an accelerating pattern of risk for SLE, leading the investigators to propose what they call the "cumulative hit hypothesis."

According to the authors, an immune system can normally absorb the effect of a modest amount of these risky genes, but as the number of genes climbs the immune system becomes overwhelmedresulting in disorders such as SLE.

The ancestral distribution of these genes may explain the ethnic disparities in SLE, according to the study. One cluster of risky genes has a greater frequency in people with African-American ancestry, a population with a higher incidence of SLE. On the other hand, a different risky cluster was less common in those with a mix of African-American and Central European ancestry, reflecting how a complex demographic history can affect the risk of developing SLE.

"There is a genetic predisposition to developing lupus and this study will help scientists decipher the heterogeneous manifestations of the disease, which is hard to diagnose and treat," Ramsey-Goldman said. "The hope is that these discoveries lead to better diagnostic tools, such as biomarkers, and assist in the development of targeted therapies."

While large-scale population screening may not be financially practical, it may be more realistic to accelerate the diagnosis of suspected lupus by testing narrowly for genetic markers such as those uncovered in the current study, according to the authors.

"Understanding the implications and not just cataloguing the overlap of genetic variation that predicts multiple autoimmune diseases is a key next set of questions these investigators are pursuing," said lead author Carl Langefeld, PhD, professor of Biostatistics at Wake Forest Medicine.

Explore further: Large multi-ethnic study identifies many new genetic markers for lupus

More information: Carl D. Langefeld et al. Transancestral mapping and genetic load in systemic lupus erythematosus, Nature Communications (2017). DOI: 10.1038/ncomms16021

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Genetic risk for lupus tied to ancestry - Medical Xpress - Medical Xpress

An international team of researchers recently published, in the journal Nature, their study using genome editing to correct a heterozygous mutation in human preimplantation embryos using a technique called CRISPR-Cas9. This bench research, while far from bedside use, raises questions about the medical ethics of what could be considered genetic engineering. The AMA Code of Medical Ethics has guidance for physicians conducting research in this area.

In Opinion 7.3.6, Research in Gene Therapy and Genetic Engineering, the Code explains:

Gene therapy involves the replacement or modification of a genetic variant to restore or enhance cellular function or the improve response to nongenetic therapies. Genetic engineering involves the use of recombinant DNA techniques to introduce new characteristics or traits. In medicine, the goal of gene therapy and genetic engineering is to alleviate human suffering and disease. As with all therapies, this goal should be pursued only within the ethical traditions of the profession, which gives primacy to the welfare of the patient.

In general, genetic manipulation should be reserved for therapeutic purposes. Efforts to enhance desirable characteristics or to improve complex human traits are contrary to the ethical tradition of medicine. Because of the potential for abuse, genetic manipulation of nondisease traits or the eugenic development of offspring may never be justifiable.

Moreover, genetic manipulation can carry risks to both the individuals into whom modified genetic material is introduced and to future generations. Somatic cell gene therapy targets nongerm cells and thus does not carry risk to future generations. Germ-line therapy, in which a genetic modification is introduced into the genome of human gametes or their precursors, is intended to result in the expression of the modified gene in the recipients offspring and subsequent generations. Germ-line therapy thus may be associated with increased risk and the possibility of unpredictable and irreversible results that adversely affect the welfare of subsequent generations.

Thus, in addition to fundamental ethical requirements for the appropriate conduct of research with human participants, research in gene therapy or genetic engineering must put in place additional safeguards to vigorously protect the safety and well-being of participants and future generations.

Physicians should not engage in research involving gene therapy or genetic engineering with human participants unless the following conditions are met:

(a) Participate only in those studies for which they have relevant expertise.

(b) Ensure that voluntary consent has been obtained from each participant or from the participants legally authorized representative if the participant lacks the capacity to consent, in keeping with ethics guidance. This requires that:

(i) prospective participants receive the information they need to make well-considered decisions, including informing them about the nature of the research and potential harms involved;

(ii) physicians make all reasonable efforts to ensure that participants understand the research is not intended to benefit them individually;

(iii) physicians also make clear that the individual may refuse to participate or may withdraw from the protocol at any time.

(c) Assure themselves that the research protocol is scientifically sound and meets ethical guidelines for research with human participants. Informed consent can never be invoked to justify an unethical study design.

(d) Demonstrate the same care and concern for the well-being of research participants that they would for patients to whom they provide clinical care in a therapeutic relationship. Physician researchers should advocate for access to experimental interventions that have proven effectiveness for patients.

(e) Be mindful of conflicts of interest and assure themselves that appropriate safeguards are in place to protect the integrity of the research and the welfare of human participants.

(f) Adhere to rigorous scientific and ethical standards in conducting, supervising, and disseminating results of the research.

AMA Principles of Medical Ethics: I,II,III,V

At the 2016 AMA Interim Meeting, the AMA House of Delegates adopted policy on genome editing and its potential clinical use. In the policy, the AMA encourages continued research into the therapeutic use of genome editing and also urges continued development of consensus international principles, grounded in science and ethics, to determine permissible therapeutic applications of germline genome editing.

Chapter 7 of the Code, Opinions on Research & Innovation, also features guidance on other research-related subjects, including informed consent, conflicts of interest, use of placebo controls, and the use of DNA databanks.

The Code of Medical Ethics is updated periodically to address the changing conditions of medicine. The new edition, adopted in June 2016, is the culmination of an eight-year project to comprehensively review, update and reorganize guidance to ensure that the Code remains timely and easy to use for physicians in teaching and in practice.

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Genome editing and the AMA Code of Medical Ethics - American Medical Association (blog)

Dr. Hegde joined PerkinElmer in 2016 as Vice President and Chief Scientific Officer, Global Genetics Laboratory Services. She also is an Adjunct Professor of Human Genetics in the Department of Human Genetics at Emory University. Previously, Dr. Hegde was Executive Director and Chief Scientific Officer at Emory Genetics Laboratory in Atlanta, GA and Professor of Human Genetics and Pediatrics at Emory University and Assistant Professor, Department of Human Genetics and Senior Director at Baylor College of Medicine in Houston, TX.

Dr. Hegde has served on a number of Scientific Advisory Boards for patient advocacy groups including Parent Project Muscular Dystrophy, Congenital Muscular Dystrophy and Neuromuscular Disease Foundation. She was a Board member of the Association for Molecular Pathology and received the Outstanding Faculty Award from MD Anderson Cancer Center. She earned her PhD in Applied Biology from the University of Auckland in Auckland, New Zealand and completed her Postdoctoral Fellowship in Molecular Genetics at Baylor College of Medicine in Houston, TX. She also holds a Master of Science in Microbiology from the University of Mumbai in India. She has authored more than 100 peer-reviewed publications and has given more than 100 keynote and invited presentations at major national and internal conferences.

"We are delighted that Dr. Hegde has been elected to the ACMG Foundation Board of Directors. She has vast experience in genetic and genomic testing and is a longtime member of the College and supporter of both the College and the Foundation," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

The complete list of the ACMG Foundation board of directors is at http://www.acmgfoundation.org.

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics' mission to "translate genes into health" by raising funds to help train the next generation of medical geneticists, to sponsor the development of practice guidelines, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support the work of the Foundation, please visit http://www.acmgfoundation.org or contact us at acmgf@acmgfoundation.org or 301-718-2014.

Contact Kathy Beal, MBA ACMG Media Relations, kbeal@acmg.net

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SOURCE American College of Medical Genetics and Genomics

http://www.acmg.net

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Madhuri Hegde, PhD is Elected to the Board of the ACMG Foundation for Genetic and Genomic Medicine - PR Newswire (press release)

It began over dinner on the Fourth of July.

Terri and David Bayne were sitting around a patio table on the deck of their old friends new townhouse.

Terri and David had a deck of their own a small one, hail-damaged and in need of paint at their house in northeast Lincoln.

They had a patio table, too, and a pair of chairs, one of them so rickety they had to turn it just so or it would tip over when you sat down.

Now their friends announced they were selling their old patio set tucked away in their garage and did they know anyone who might want to buy it?

As a matter of fact, Terri and David said, they did.

The friends wouldnt take the Baynes money and insisted on delivering the glass-topped table and six comfy chairs themselves.

But when they put it on the Baynes' deck, it looked like a king-sized bed in a bathroom.

It barely fit, Terri said Tuesday, driving back to work after a lunch date with David, hosted by his former colleagues at Home Real Estate.

David has been an agent for 38 years, the last five at Sellstate Performance Realty. For 34 of those years, he sold houses by day and worked nights at Goodyear.

Thats where he met Terri Murray. David had three kids of his own Mike and Ben and Carney and he and Terri had a son and named him Joe. Now they have five grandchildren.

People call David Big Teddy Bear.

Because hes such a wonderful man, Terri says. And hes an emotional type of guy. Hes not afraid to shed a tear.

Nearly seven years ago, David, 65, was diagnosed with two types of blood cancer. Last month, he updated his condition via Facebook.

The doctors have decided that we are out of options and will no longer be giving me any treatments, he wrote.

I knew that this day was coming but that day is not supposed to be here for many more tomorrows

He thanked everyone for their love and support and prayers.

And everyone started to type: What can we do to help?

The hot workers took a break in the shade Tuesday afternoon David and Terris nephew, a son-in-law born in South Africa, two brothers-in-law and Terris sister from down the street, sitting on those comfy patio chairs in the grass.

The old deck was gone. A pile of broken cement, a stack of splintering wood once painted red.

Ryan Mueller, the nephew, had built a deck at his house this spring, and he had a plan and a building permit.

They hoped to be done by Saturday, he said.

As they rested, the crew talked about David.

Son-in-law Sam Funnah called him Dr. Phil.

Hes just one of those people that you want to help, said Davids brother-in-law Doug Smith. Rarely have I heard him say anything negative about anyone.

By Wednesday, the holes for the footings were dug, 3 feet deep and round as silver dollars. Bags of cement were poured into a mixer, transforming the powder into wet concrete for the footings.

New faces filled the backyard.

And more arrived Thursday nieces and nephews; David and Terris son Joe; another son, Mike, home from Amman, Jordan.

The crew hauled heavy bags and hammered nails. Someone ran to the hardware store. Great-aunts watched a toddler named Henry.

David was inside resting.

Its hard for him to be sitting in the living room while theyre out back working, Terri said.

Hes always been the giver, so its hard for him to be the receiver.

The Murray girls are all married. Terri is the oldest, then Lorri (Warboys), then Lynn (Smith), then Danni (Brennan).

Danni and her husband, Troy, have been living in Dubai for the past six months for his job at Pfizer, but theyre back for three more weeks.

Danni is the brains behind the deck-building project. The idea came to her after Ryan, her son-in-law, posted photos of his own new deck on Facebook and Terri typed a reply: Do you hire out?

As soon as I read that, I said to some of the relatives, lets make this happen as soon as we can, Danni says.

Then she thought back to another post.

After David put out his message on Facebook there were 100 different comments. All these people saying, What can I do?

Its the universal refrain of those who feel helpless when someone is hurting: What can I do to help?

There it was. A need. And an offer.

Those people were willing to bless him, Danni said. And because everyone has their own gifts, I offered three ways to help. Financially, labor, food.

Then she remembers a fourth: Also prayer.

Tuesday night, a cousin brought pizza. We hadnt seen her for years.

Wednesday night, a former coworker from Goodyear fixed sloppy joes.

Thursday, a group of church friends organized a potluck.

The weather had turned cool, and David joined the party and they all sat around the patio table in the grass, admiring the new deck taking shape before their eyes.

David was once 6-foot-2, which is where the big in Big Teddy Bear comes from.

Hes shorter now by 4 inches. Its the cancer, causing his vertebrae to compress.

It basically pokes tiny holes in all my bones, he says.

The fan is blowing cool air in the living room where David rests in an overstuffed recliner, bottled water and a bag of peppermints nearby.

Earlier in the week, he and Terri walked four houses down the block to visit Terris sister Lorri and her husband, Larry, a 30-minute pilgrimage.

David is tired most of the time and always in pain, even though he doesnt complain. A cane rests by the recliner and a walker with wheels is folded nearby.

He just started using it.

Since he was diagnosed with multiple myeloma and amyloidosis, doctors have tried four kinds of chemotherapy and a stem cell transplant. Hes never gone into full remission. And even though he officially entered hospice last week, if a new study opened up or a new drug became available, hed try it, David says.

If it doesnt help him, maybe it will help someone else.

Hes still working. I had two nice closings this week.

He loves selling houses, helping buyers find new homes. And I love seeing new agents as they develop.

He shakes his head thinking about the new deck, that suburban barn-raising, all that work and love in his backyard.

I dont know, he says. Its too much.

Terri is the office manager at Sellstate, the real estate office where David works.

Last week, the owners brought in a personal life coach to help the agents clarify and work on their goals both professional and personal.

David went to listen to her talk, first in a group session and then one-on-one, when she explained the one-year individual program she offered.

He had cancer and was in hospice, David told her, so that probably wouldnt work for him.

Later, Terri asked him why hed gone, and he said that not very many people had signed up and he felt bad, because the company had gone to so much work to bring her in.

He said you can always learn something, so he listened, she said. Thats just David.

By Friday morning, the framing is finished.

By Friday evening, the crew has returned. Its work has been inspected and greenlighted by the city and its time for the decking.

Terri and David picked the color for the sturdy composite boards, an upgrade from their rotting wood with its peeling paint.

From the hardware store, Terri texted her sisters their choice rustic gray and told them she and David had the money to pay for it.

The Murray girls answered.

It will be covered, Lynn texted back. People asked. Also if we let them help it will be a blessing to them. People need to feel needed

So, no, David, you are not going to get money from your account, but nice try.

The checks are still coming. $25. $50. $300.

There is a sense of urgency about this deck, a feeling of summer slipping away, of David becoming too sick to enjoy it.

David likes the outdoor spaces at home. The old metal chairs out front, the deck off the kitchen, where hed slip outside to think and pray in the stillness on nights he couldnt sleep.

Theyll finish by the Saturday deadline, Ryan says, as this nights team of helpers a nephew named Austin; Davids daughter, Carney; Dannis husband, Troy; and a trio of Murray sisters picked up drills and started in.

This deck is bigger than the old one wider by 6 feet and deeper, too, with stairs down the side, so its a straight shot off the kitchen.

David sat in the yard, leaning on his walker, a bottle of peach tea in one hand.

Terri hugged him from behind.

Lorri and Danni grabbed a wheelbarrow and walked down the block, returning with a crock pot and covered dishes for tonights picnic.

David was quiet. A Big Teddy Bear in brown loafers, not afraid to die, but wishing he could be the one to say: What can I do to help?

Read the original here:
Cindy Lange-Kubick: Building a deck for David, the blessings of giving - Lincoln Journal Star

Reprinted with the kind permission of Cort Johnson and Health Rising.

By Cort Johnson

The Real Action - The Working Group

Davis has noticed that waiting for data to be validated in journal publications isn't exactly a pathway to quick results. Far better, he thinks, to give new data - recognizing that it's not been completely validated - the chance to inform and strengthen other researchers' work. (Suzanne Vernon did something similar with her Cold Spring Harbor meetings). The working session actually was planned before the Community Symposium; it's part of Davis' vision of a collaborative team of researchers working together to solve ME/CFS.

Drs. Bateman and Bell will provide clinical expertise to PhD's from a variety of fields. Some research names will be familiar (Naviaux, Younger, Hanson, Light, McGregor) but many others (Tompkins, Olivera, Xiao, Berg, Esfandyarpour, etc.) are experts from other fields whom Davis has enrolled in his fight to beat ME/CFS. Two Nobel Laureates (Paul Berg, Mario Capecchi) are attending, as well as several department heads/directors (Ron Tompkins, Michael Synder) and one person from industry (Integrative Bioinformatics). Stanford and Davis' Genome lab is widely represented.

That's a lot of brain power to assess the most recent findings in ME/CFS, suggest new directions, and produce new insights into ME/CFS.

The Symposium

The Community Symposium was conceived after the workshop, but it is a rare chance to hear from and interact with researchers doing some of the hottest work on ME/CFS.

You can either physically be there, view it live for free over a Livestream feed (how often does that happen?), or watch later via DVD's or YouTube downloads. The $75 participation fee for those who want to physically be there covers the costs of hosting the event and the breakfast and lunch provided. It's a chance to hear, ask questions and mingle with some of the top researchers in the field. We should hear some exciting early results from a number of researchers.

Speakers

Ron Davis, PhD - last seen using the Seahorse machine to determine if something in ME/CFS patients' blood is blocking their cells' energy production. He will be speaking on some early results from the Severe ME/CFS Big Data project.

Bob Naviaux, PhD - last seen publishing a successful pilot drug trial in autism and possibly about to gear up for one in ME/CFS.

Chris Armstrong, PhD - last seen doing a long term metabolomics study and attempting to rejuvenate metabolic functioning in ME/CFS patients.

Jonas Berquist, PhD - last seen doing metabolomics and proteomics studies on the cerebral spinal fluid of ME/CFS patients.

Mario Capecchi, PhD - last seen getting a Nobel Prize and exploring the interface between molecular genetics, the immune system and central nervous system diseases.

Mark Davis, PhD - last seen publishing (with Dr. Montoya) the biggest immune study ever in ME/CFS - which should go far to help legitimize ME/CFS. Ron Davis thinks Mark Davis' next project involving T-cells may be even more significant. NINDS director, Dr. Koroshetz, also singled out Mark Davis' findings in the recent NIH Teleconference call. Davis will talk on those findings in the Symposium.

Maureen Hanson, PhD - talk about an exciting project: last seen examining the effect exercise has on the immune system and metabolomics.

Alan Light, PhD - last seen demonstrating how the receptors that react to exercise by-products go bonkers in ME/CFS and FM.

Neil McGregor, PhD - last seen promoting the use of metabolomics to study ME/CFS.

Baldomero Olivera, PhD - last seen developing ion channel drugs to relieve pain.

Wenzhong Xiao, PhD - last seen analyzing the Severe ME/CFS Big Data project results.

Rules of the Game

Ron Davis is easy to talk to and has a great sense of humor - you'd never know you were talking to one of the great figures in biology. Davis has won some of the highest prizes in medical research, has been mentioned as a Nobel Prize candidate, and created some of the building blocks that made the human genome project possible.

He's a different sort of researcher than we've come to expect. Running a major lab at Stanford, Davis inhabits a different world than we're used to with ME/CFS. Plus, he's 76 years old, has nothing to prove, and wants to save his son's life. Given that context, one might think that Davis would be out tooting his own horn and ginning everyone up constantly. What Davis really wants to talk about, though, is not the latest breakthrough, but how to do good science and just how difficult and rare that is.

He's just relentless on the subject. Whether it's doing good studies, the grant awarding process, publication procedures, or study methodology, this theme crops up again and again. Davis has had a life-time of solving complex problems. Now, it's solving ME/CFS. It's a game he really wants to win. He's won games like this before - and he dearly wants to communicate how to win this game.

Rules of the Game (Note - I came up with these rules after listening to Davis)

Davis has dealt with staggeringly complex problems throughout his career (his "former life" he says) - he loves the really knotty stuff - but that legacy has left him with a real appreciation for just how incredibly complicated the human body is. He knows the curve balls the body often brings. He never underestimates its ability to fool us. So one of the rules is to be humble and expect surprises.

Expect Surprises

One of the rules of being successful at the game of solving ME/CFS (or any biological mystery) is recognizing that surprises - false leads and unexpected breakthroughs - are inevitable. That's a humbling thing - we all want quick answers - but once you recognize that surprises are inevitable, you don't get too carried away at any one finding. You stop discarding things that don't, at first blush, make sense. Instead, you investigate them fully. You try and poke holes in your breakthroughs. Above all you try to avoid wasting precious time and resources on something you should have discarded long ago.

Davis said his team is following many preliminary leads, but I got the feeling that it's the results they didn't expect (they are getting some surprising data) that he finds the most interesting. Some of those unanticipated results, he said, will turn out to be fortuitous, but others could change everything.

That kind of thinking is rare. We tend to go where we know to go. After all, humanity almost destroyed the ozone layer because researchers' computer programs automatically discarded the "aberrant" reading that they thought must be wrong.

It takes some daring to think outside the box. Davis wondered how many ME/CFS patients with lymphoma it took before two doctors recognized that Rituximab was helping with ME/CFS. No one at that time would put a chemotherapy drug and ME/CFS in the same sentence - and that kind of closed thinking had consequences; it probably took us much longer than necessary to glom onto Rituximab than it could have.

Davis clearly does not want that to happen with ME/CFS. Investigating everything is part of the process. That seems slow, but it really isn't in a disease where not that much is known. Unless you look at EVERYTHING, you might - in fact you almost certainly will - miss anything which is out of the ordinary - hence the Open Medicine Foundation's Severe ME/CFS Big Data project and the NIH's Intramural study.

Collaboration is Key

Davis has many times said he can't solve chronic fatigue syndrome on his own - the disease is simply too complex. He needs to collaborate, and that means enrolling researchers who have successfully worked on complex projects before, who are experts in the fields he is not expert in, and people with a high intellect to arrogance ratio.

Davis said his PhD advisor had the highest intellect to arrogance ratio of anyone he's ever known. That mentor basically provided a template for effectiveness and collegiality that Davis has followed ever since. If you're arrogant (unless you're an out and out genius - it is a ratio, after all 🙂 ) you probably won't be welcome at Davis' table. Davis wants people who work well with others.

Luckily, arrogance is not normally a problem: biology, Davis, said, has a way of humbling one - the really smart people know enough to know that there's too much that they don't know for them to be arrogant about the little they do know.

Davis didn't say so, but the underlying message for me was that it's going to take time. We are getting some good results, but my guess is that the process - bringing good people in, getting them to collaborate, getting them thinking more and more about ME/CFS - is the most important thing right now.

If the field follows that kind of process, if it focuses on doing the best work, on collaborating, if it's fiercely critical and remains curious and creative - ME/CFS will yield its secrets and fold.

View original post here:
OMF Symposium to Provide First Look at Metabolomic / Immune Results in ME/CFS - ProHealth

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Helen McNeills work in developmental biology spans birth defects to cancer

Helen McNeill, PhD, has been named a BJC Investigator at Washington University School of Medicine in St. Louis. She is the first researcher named as part of the new BJC Investigators Program.

Helen McNeill, PhD, has been named a BJC Investigator at Washington University School of Medicine in St. Louis. She is the first researcher named as part of the new BJC Investigators Program, which aims to recruit scientists who bring innovative approaches to major biological quandaries and whose discoveries stand to inform new ways of understanding disease and developing treatments.

McNeill, the first of 10 expected BJC Investigators, is currently a professor in the Institute of Medical Science and the Department of Molecular Genetics, both at the University of Toronto. She is also a senior investigator at the Lunenfeld-Tanenbaum Research Institute, part of the Sinai Health System in Toronto. Her appointment as a BJC Investigator and a professor of developmental biology at Washington University begins Jan. 1, 2018.

We are excited to begin the BJC Investigators Program with the appointment of Dr. Helen McNeill, an international leader in the field of developmental biology, said David H. Perlmutter, MD, executive vice chancellor for medical affairs and dean of the School of Medicine. We sought candidates who had already indelibly changed their fields, whose discoveries will result in new and fundamental shifts in scientific thinking and whose laboratories will become a nidus for additional innovative work across Washington University. Helens scientific accomplishments, her high standards of excellence and ability to collaborate across disciplines make her a perfect fit.

The program is designed to specifically focus on basic science and is inspired by the Howard Hughes Medical Institutes philosophy of investing in people with exceptional creative talent. It plans to bring 10 renowned researchers to Washington University School of Medicine and the life sciences ecosystem of St. Louis.

We are very excited about the BJC Investigators Program at Washington University School of Medicine, said Steven H. Lipstein, CEO of BJC HealthCare. This program represents another joint effort between BJC and Washington University to help keep the schools biomedical research at the forefront of discovery. Pioneering research here in St. Louis offers our best hope for finding solutions to societys greatest medical challenges.

McNeills work is focused on understanding the processes that govern how cells make contact and work together to form the broader architecture of whole tissues, both during development and adulthood. Her work spanning studies of fruit flies, mice and human genetic data has relevance for understanding birth defects, cancer and diseases of specific organs, such as the kidney and lungs.

McNeill earned a bachelors degree in biology from the Ramapo College of New Jersey in 1985, followed by a doctorate in molecular and cellular physiology from Stanford University in 1993. She continued research at Stanford with a postdoctoral fellowship in fruit fly genetics. McNeill later led the Developmental Patterning Laboratory at the London Research Institute, a part of the Imperial Cancer Research Fund of the United Kingdom. She joined the faculty of the University of Toronto in 2005, where she has directed the Collaborative Program in Developmental Biology and earned numerous recognitions for her research, including the Petro-Canada Young Innovator Award and the Lloyd S.D. Fogler, QC, Award of Excellence for her research in cancer biology. Last year, she was awarded a Canada Tier 1 Research Chair, a position in which a scientist is recognized by peers as a world leader in his or her field.

I am delighted that Dr. McNeill will be joining us at Washington University, said Lilianna Solnica-Krezel, PhD, the Alan A. and Edith L. Wolff Professor of Developmental Biology and head of the Department of Developmental Biology. She is a leader in the field and among the most original and creative investigators of pathways that are vital for the regulation of tissue structure and growth. The pathways she studies are among the least understood cellular pathways, with implications for a variety of birth defects and other diseases, including cancer.

Specifically, McNeill studies molecules that govern how cells make contact and communicate with one another. Called giant cadherins for their large size, these molecules play important roles in controlling the size of organs and in orchestrating how cells assemble themselves into complex tissues at precise times and with specific patterns and orientations. Her work also has implicated these molecules in cellular metabolism and the function of mitochondria, molecular powerhouses that manufacture a cells fuel supply. According to McNeills research, disruption of the giant cadherins can interfere with early embryonic development leading to, for example, neural tube defects that cause spina bifida or defects in the development of the kidney and urinary tract. Her work has identified cadherins as a culprit in congenital kidney diseases such as cystic kidney disease.

I am excited and honored to be joining Washington University School of Medicine as a BJC Investigator, McNeill said. Supporting research in the basic sciences is so important in making new discoveries and pushing the boundaries of what is known about human health and development. I thank the School of Medicine and BJC HealthCare for their commitment to supporting basic biomedical science in my own lab and in the labs of my fellow investigators.

Washington University School of Medicines 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is one of the leading medical research, teaching and patient-care institutions in the nation, currently ranked seventh 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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First of 10 expected BJC Investigators named - Washington University School of Medicine in St. Louis

Myriad Genetics (NASDAQ: MYGN) and HTG Molecular Diagnostics (NASDAQ:HTGM) are both small-cap medical companies, but which is the better investment? We will contrast the two businesses based on the strength of their profitabiliy, analyst recommendations, earnings, valuation, institutional ownership, risk and dividends.

Valuation and Earnings

This table compares Myriad Genetics and HTG Molecular Diagnostics revenue, earnings per share (EPS) and valuation.

Myriad Genetics has higher revenue and earnings than HTG Molecular Diagnostics. HTG Molecular Diagnostics is trading at a lower price-to-earnings ratio than Myriad Genetics, indicating that it is currently the more affordable of the two stocks.

Profitability

This table compares Myriad Genetics and HTG Molecular Diagnostics net margins, return on equity and return on assets.

Institutional & Insider Ownership

28.0% of HTG Molecular Diagnostics shares are held by institutional investors. 6.2% of Myriad Genetics shares are held by insiders. Comparatively, 7.6% of HTG Molecular Diagnostics shares are held by insiders. Strong institutional ownership is an indication that endowments, hedge funds and large money managers believe a stock will outperform the market over the long term.

Analyst Ratings

This is a summary of current recommendations and price targets for Myriad Genetics and HTG Molecular Diagnostics, as provided by MarketBeat.

Myriad Genetics presently has a consensus target price of $21.55, suggesting a potential downside of 13.44%. HTG Molecular Diagnostics has a consensus target price of $6.17, suggesting a potential upside of 175.30%. Given HTG Molecular Diagnostics stronger consensus rating and higher probable upside, analysts clearly believe HTG Molecular Diagnostics is more favorable than Myriad Genetics.

Volatility and Risk

Myriad Genetics has a beta of 0.31, suggesting that its share price is 69% less volatile than the S&P 500. Comparatively, HTG Molecular Diagnostics has a beta of 0.55, suggesting that its share price is 45% less volatile than the S&P 500.

Summary

HTG Molecular Diagnostics beats Myriad Genetics on 7 of the 13 factors compared between the two stocks.

Myriad Genetics Company Profile

Myriad Genetics, Inc. is a molecular diagnostic company. The Company is engaged in the discovery, development and marketing of transformative molecular diagnostic tests. The Company operates through two segments: diagnostics and other. The diagnostics segment provides testing and collaborative development of testing that is designed to assess an individuals risk for developing disease later in life, identify a patients likelihood of responding to drug therapy and guide a patients dosing to enable optimal treatment, or assess a patients risk of disease progression and disease recurrence. The other segment provides testing products and services to the pharmaceutical, biotechnology and medical research industries, research and development, and clinical services for patients, and also includes corporate services, such as finance, human resources, legal and information technology. Its molecular diagnostic tests include myRisk Hereditary Cancer, BRACAnalysis CDx and COLARIS.

HTG Molecular Diagnostics Company Profile

HTG Molecular Diagnostics, Inc. is a commercial-stage company that develops and markets a technology platform to facilitate the routine use of complex molecular profiling. The Companys HTG Edge and HTG EdgeSeq platforms, consisting of instrumentation, consumables and software analytics, are used in sample profiling applications, including tumor profiling, molecular diagnostic testing and biomarker development. The Companys HTG Edge and HTG EdgeSeq platforms automate the molecular profiling of genes and gene activity using its nuclease protection chemistry on a range of biological samples. The Companys HTG EdgeSeq chemistry, together with its HTG Edge or HTG EdgeSeq instrumentation and software, automates and adapts its nuclease protection chemistry to enable analysis using next generation sequencing (NGS) instrumentation. The HTG EdgeSeq system utilizes substantially the same sample preparation reagents as its original chemistry, but allows for read out on an NGS instrument.

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Analyzing Myriad Genetics (NASDAQ:MYGN) and HTG Molecular Diagnostics (HTGM) - BNB Daily (blog)

We lost an American icon Thursday with the death of actor and playwright Sam Shepard. He had ALS (amyotrophic lateral sclerosis), more commonly known in the U.S. as Lou Gehrigs disease. Its an invariably fatal neurological disease that robs individuals of their ability to move muscles, their ability to swallow, and eventually, their ability to breathe.

ALS often starts in a fairly nonspecific way, with weakness in a persons hand or foot. Although I never examined the late Mr. Shepard, even in public photos from 2016, the atrophy of his hand muscle was evidenta hallmark of the loss of muscle that occurs in ALS.

In about 90% of cases diagnosed by neurologists, ALS happens out of the blueits sporadic, and the cause isnt known. About 10% of the time, ALS is inherited through a defective gene; that is, a patient has a family member who also had the disease. We can readily diagnose inherited ALS with a relatively simple blood test.

Five years ago, we learned that even in some patients who have no family history of ALS, a defect in a gene known as C9orf72 underlies the disease. In some patients, the disease may be initially diagnosed incorrectly as a nerve problem in the hands or wrist (carpel tunnel syndrome), or a pinched nerve in the neck or back. But those conditions are commonly associated with painALS is not generally a painful disease.

The weakness typically progressesslowly over many years in some patients, or rapidly over a few months in othersprogressing from one hand to the other, from hand to foot, or foot to hand. Eventually it affects ones ability to chew, swallow, and breathe. The weakness of the breathing muscles is what makes ALS fatal. Unlike cancer, with its rare but real remissions, ALS is always fatal. Patients might choose to have a ventilator artificially breathe for them; that intervention delays death, but not the progressive weakening and paralysis of all muscles.

As treating physicians, we have a paucity of options to slow down the disease and have no real effective drug to halt its relentless progression or to recover functionno cure. ALS is not really one disease, but a combination of different genetic, even environmental, insults, that culminate in this horribly disabling and life-ending malady. Not unlike what we have learned about cancers, there may be many different causesgenetic, molecular, biochemicalthat underlie the disease. In cancers, sampling the actual diseased tissue, commonly through tissue biopsies, has provided a trove of clues about what underlies the basis of the different cancers and how to approach the different forms, sometimes quite successfully. But with ALS, we cannot readily take a chunk of someones brain or spinal cord, so we are often left guessing as to what may underlie the cause of the disease and how to best treat it. That antiquated approach may soon end.

Advances in the generation of stems cells from individual patients provide the most powerful way to generate their own brain cells. We are now able to take a small tube of blood or skin and turn those cells into stem cells (by a procedure that won the Nobel prize several years ago), and then, by adding a few more chemicals and special genes, turn those cells into motor neuronsbrain and spinal cord cells that die in ALS.

This procedure, which in essence creates a biopsy of the brain/spinal cord of ALS patients, will allow us to achieve what has been so successful in cancerto truly understand the different kinds of ALS, to use our patients brain cells to discover their individual disease causes, and to develop a more individualized pathway for drug therapy. We aim to personalize ALS therapywhat we call Answer ALS. That is the hope on the horizon for ALS, along with drugs now already under development or in clinical trials that are specifically targeted to patients with known genetic mutations. How far that horizon is in the distance, we dont know, but we can see it. We only wish Mr. Shepard and all our past patients could have reached that hopeful horizon.

Jeffrey D. Rothstein MD, PhD, a neurologist and professor at Johns Hopkins University, is the director of the universitys Brain Science Institute, ALS clinic and Robert Packard Center for ALS Research.

Read more from the original source:
Sam Shepard Died of ALS. Here's Why It's so Difficult to Treat. - Fortune

Photo: Arnold Gold / Hearst Connecticut Media

Dr. Steven Gore at the Advanced Cell Therapy Lab at Smilow Cancer Hospital in New Haven, where cells are manufactured that fight a rare form of leukemia.

Dr. Steven Gore at the Advanced Cell Therapy Lab at Smilow Cancer Hospital in New Haven, where cells are manufactured that fight a rare form of leukemia.

Rare leukemia targeted by modifying patients immune cells

NEW HAVEN >> Young patients with a particular type of leukemia who have relapsed after going into remission may find new hope through a treatment that involves modifying a patients own T cells, an important part of the immune system, to destroy cancer cells.

While the therapy, in which genes are inserted into a patients T cells, is expected to receive Food and Drug Administration approval soon for pediatric patients, researchers hope that it will be effective for adult patients as well and for more types of cancers, according to Dr. Steven Gore, director of hematologic malignancies at the Yale Cancer Center.

The cancer thats the focus of this T cell therapy is B-lineage acute lymphoblastic leukemia, which is the most common leukemia in kids and its commonly cured in the 2- to 10-year-old age group, Gore said. He said about 70 percent of children with the cancer are cured.

However, the rest suffer a recurrence of the disease even after treatment with chemotherapy and stem cell transplants.

Its getting to be a difficult situation, Gore said.

There are 3,100 cases of children with B-lineage ALL each year, he said.

B cells, also known as B lymphocytes, are white blood cells that produce antibodies, which fight infection. A characteristic of B cells is that they have a protein on their surface called CD19, which is the key to the new treatment.

The new process, marketed by Novartis and first developed at the University of Pennsylvania, involves harvesting T cells from the patient. Novartis then introduces DNA into these T cells, introducing new genes into the T cells, [which] include a receptor that will recognize CD19, Gore said. The genes that are fused into the T cells are manufactured in the lab but are copies of normal human genes, Gore said. The new cell is called a chimeric antigen receptor T cell, or CAR-T cell.

Normal T cells fight disease, and we know that T cells can attack cancer cells as well, but getting them to do so in the host where the cancer has developed is tricky, Gore said. Cancer cells are very similar [to] normal cells from which they derive.

Turning the T cells into CAR-T cells helps by targeting the CD19 marker on the B cells. CD19 happens to be a pretty good target for cancer technology because its only on B cells, Gore said. These new CAR-T cells latch onto the leukemia cells.

Reproducing cells

Then, once they see that theyre needed, the CAR-T cells are going to make more of themselves. Theyre going to make a whole army-full beside what we gave the patient, Gore said. Other genes in the introduced DNA give the immune system the go-ahead to kill these leukemia cells.

The CAR-T cells target both healthy and malignant B cells, but people live all the time without B cells, Gore said, by relying on drugs such as rituximab.

The treatment is not easy on the patient, however. When this massive influx of these new T cells attack all these leukemia cells, youre basically setting up a jihad in your body, Gore said. People can get very critically ill after this therapy, even needing to be treated in the intensive care unit.

Despite the hardship, the FDAs Oncologic Drugs Advisory Committee voted 10-0 on July 12 to recommend approval of CAR-T therapy, and it is very rare that an ODAC approval does not end up in an FDA approval, Gore said.

In one trial, 41 of 50 patients with relapsed or refractory B-lineage ALL each achieved complete remission after three months, Gore said, and 60 percent of those patients were still in remission six months later.

It will be rapidly opened up to adults as well, theres no question about it, he said. Some people think this therapy may replace stem cell therapy and doctors hope it can be given before a patient relapses, avoiding stem cell transplants.

We dont have long-term follow-up to know if these patients are cured, Gore said. Theyve certainly been rescued from otherwise-certain death.

Gore said the Yale School of Medicine has been approached by Novartis to be one of the rollout sites for this therapy.

While the new treatment targets a relatively rare cancer, its likely to be effective in other cancers involving B cells, including other types of leukemia and lymphoma, Gore said. (Not all lymphomas and leukemias are B cell cancers, however.) This rare leukemia has been the subject of all this investigation because CD19 is such a low-hanging fruit, because we can live without B cells, he said.

But the technology can theoretically be adapted to any kind of tumor, he said. Theoretically, you could make a CAR-T to target any particular kind of cancer provided that that cancer expresses certain proteins that are predominantly limited to the cancer and not important vital organs.

Call Ed Stannard at 203-680-9382.

Read more here:
Rare leukemia targeted by modifying patients' immune cells - New Haven Register

A team of scientists from the UNC School of Medicine and North Carolina State University (NCSU), U.S. have developed promising research towards possible stem cell treatment for several lung conditions, such as idiopathic pulmonary fibrosis (IPF), chronic obstructive pulmonary disease (COPD), and cystic fibrosis, all of which are known to be fatal conditions. In the journal Respiratory Research, the scientists demonstrated that they could harvest lung stem cells from people using a relatively non-invasive, doctors office technique. They were then able to multiply the harvested lung cells in the lab to yield enough cells sufficient for human therapy.

In a second study, published in the journal Stem Cells Translational Medicine, the team showed that in rodents they could use the same type of lung cell to successfully treat a model of IPF a chronic, irreversible, and ultimately fatal disease characterised by a progressive decline in lung function. These diseases of the lung involve the build-up of fibrous, scar-like tissue, typically due to chronic lung inflammation. As this fibrous tissue replaces working lung tissue, the lungs become less able to transfer oxygen to the blood. Patients ultimately are at risk of early death from respiratory failure. In the case of IPF, which has been linked to smoking, most patients live for fewer than five years after diagnosis.

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Lung fibrosis? Stem cell therapy holds promise - The Hindu

CRISPRs original promise appears to be coming to fruition after a potentially fatal hereditary gene was edited out of an embryo.

CRISPR or CRISPR-Cas9, to give it its full name is heralded as an advanced technique that could change the course of medicine by allowing researchers to cut out genetic mutations in embryos that contribute to hereditary conditions.

One of the first steps to this becoming a reality has taken place, with help from a team of international researchers that, for the first time, used CRISPR to correct a mutation that leads to heart conditions in future generations.

In a paper published to Nature, the team revealed that it used the technique on embryos in their earliest stage of development to cut out the genes that lead to the formation of hypertrophic cardiomyopathy (HCM), the most common cause of sudden death in athletes and young people.

Affecting approximately 1 in 500 people, the condition is caused by a dominant mutation in the MYBPC3 gene. Those with the faulty gene have a 50pc chance of passing it on to their children.

To achieve this major breakthrough, the researchers generated stem cells from a skin biopsy from a person with HCM and, using CRISPR, specifically targeted the MYBPC3 gene for repair.

The donors own stem cells were then inserted in place of the mutation during the next round of cell division, by using either a synthetic DNA sequence or the non-mutated copy of the MYBPC3 gene as a template.

Using IVF techniques, the researchers injected the best-performing gene-editing components into healthy donor eggs, newly fertilised with the donors sperm.

To their surprise, analysis of the repair work was found to be both very safe and efficient. A high percentage of the embryonic cells were repaired, and it did not induce any unintended mutations in other genes.

This might allay of reports on CRISPR over the past few months, whichshowed examples of the technique mutating other genes unrelated to experiments, suggesting it could lead to more damage than good.

Thanks to advances in stem cell technologies and gene editing, we are finally starting to address disease-causing mutations that impact potentially millions of people, said Juan Carlos Izpisua Belmonte, a professor from the Salk Institute and one of the authors of the paper.

Gene editing is still in its infancy so even though this preliminary effort was found to be safe and effective, it is crucial that we continue to proceed with the utmost caution, paying the highest attention to ethical considerations.

The team stressed, however, that these are still very preliminary results and more research will need to be done to ensure no unintended effects occur.

This latest news comes just days after a team in the US announced it had changed the DNA of a large number of one-cell embryos, paving the way for a process to correct defective genes that cause inherited diseases.

The rest is here:
CRISPR used to edit out sudden-death gene mutations in major first - Siliconrepublic.com

The secret to healing what ails you lies within your own DNA.(photo credit:DREAMSTIME)

Scientists have, for the first time, corrected a disease-causing mutation in early-stage human embryos using gene editing.

The technique, which uses the CRISPR- Cas9 system, corrected the mutation for a heart condition at the earliest stage of embryonic development so that the defect would not be passed on to future generations.

It could pave the way for improved in vitro fertilization outcomes as well as eventual cures for some thousands of diseases caused by mutations in single genes.

The breakthrough and accomplishment by American and Korean scientists, was recently explained in the journal Nature. Its a collaboration between the Salk Institute, Oregon Health and Science University and South Koreas Institute for Basic Science.

Thanks to advances in stem cell technologies and gene editing, we are finally starting to address disease-causing mutations that impact potentially millions of people, said Prof. Juan Carlos Izpisua Belmonte of Salks gene expression lab and a corresponding author of the paper. Gene editing is still in its infancy, so even though this preliminary effort was found to be safe and effective, it is crucial that we continue to proceed with the utmost caution, paying the highest attention to ethical considerations.

Though gene-editing tools have the power to potentially cure a number of diseases, scientists have proceeded cautiously partly to avoid introducing unintended mutations into the germ line (cells that become eggs or sperm).

Izpisua Belmonte is uniquely qualified to speak on the ethics of genome editing because, as a member of the Committee on Human Gene Editing at the US National Academies of Sciences, Engineering and Medicine, he helped author the 2016 roadmap Human Genome Editing: Science, Ethics and Governance.

Hypertrophic cardiomyopathy is the most common cause of sudden death in otherwise healthy young athletes, and affects approximately one in 500 people. It is caused by a dominant mutation in the MYBPC3 gene, but often goes undetected until it is too late. Since people with a mutant copy of the MYBPC3 gene have a 50% chance of passing it on to their own children, being able to correct the mutation in embryos would prevent the disease not only in affected children but also in their descendants.

The researchers generated induced pluripotent stem cells from a skin biopsy donated by a male with Hypertrophic cardiomyopathy and developed a gene-editing strategy based on CRISPR-Cas9 that would specifically target the mutated copy of the MYBPC3 gene for repair. The targeted mutated MYBPC3 gene was cut by the Cas9 enzyme, allowing the donors cells own DNA -repair mechanisms to fix the mutation during the next round of cell division by using either a synthetic DNA sequence or the non-mutated copy of MYBPC3 gene as a template.

Using IVF techniques, the researchers injected the best-performing gene-editing components into healthy donor eggs that are newly fertilized with donors sperm. All the cells in the early embryos are then analyzed at single-cell resolution to see how effectively the mutation was repaired.

They were surprised by the safety and efficiency of the method. Not only were a high percentage of embryonic cells get fixed, but also gene correction didnt induce any detectable off-target mutations and genome instability major concerns for gene editing.

The researchers also developed an effective strategy to ensure the repair occurred consistently in all the cells of the embryo, as incomplete repairs can lead to some cells continuing to carry the mutation.

Even though the success rate in patient cells cultured in a dish was low, we saw that the gene correction seems to be very robust in embryos of which one copy of the MYBPC3 gene is mutated, said Jun Wu, a Salk staff scientist and one of the authors.

This was in part because, after CRISPR- Cas9 mediated enzymatic cutting of the mutated gene copy, the embryo initiated its own repairs. Instead of using the provided synthetic DNA template, the team surprisingly found that the embryo preferentially used the available healthy copy of the gene to repair the mutated part.

Our technology successfully repairs the disease-causing gene mutation by taking advantage of a DNA repair response unique to early embryos, said Wu.

The authors emphasized that although promising, these are very preliminary results and more research will need to be done to ensure no unintended effects occur.

Our results demonstrate the great potential of embryonic gene editing, but we must continue to realistically assess the risks as well as the benefits, they added.

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Early gene-editing holds promise for preventing inherited diseases - The Jerusalem Post

The Department of Health (DOH) has encouraged all Filipinos to have their eyes checked in observance of Sight Saving Month, which was aimed at supporting efforts to reduce the prevalence of avoidable blindness.

The DOH spearheads the annual observance this month by virtue of Proclamation No. 40.

This years theme, Universal Eye Health: No More Avoidable Blindness, was designed to strengthen public awareness on the importance of proper eye care and promote the prevention of avoidable blindness, which is a serious public health issue of global magnitude.

Avoidable blindness left unaddressed, particularly for those who are blind or have severe visual impairment, results in reduced functional ability and loss of self-esteem and contributes towards the reduction of quality of life, the DOH said.

The disability from visual impairment has considerable economic implications with loss of productivity and income and can lead to poverty and social dependency, it said.

Early detection and preventive care can help keep our eyes healthy and avoid common causes of blindness, the DOH said.

According to a 2012 report from the World Health Organization, approximately 285 million people worldwide are visually impaired, with 39 million blind and 246 million with low vision.

Globally, cataracts remain the leading cause of blindness followed by glaucoma and age-related macular degeneration as the secondary causes.

In the Philippines, the estimated number of persons who are bilaterally blind is 332,150 of which 33 percent or around 109,609 is due to cataract, 25 percent (83,037) due to errors of refraction (EOR) and 14 percent (46,501) due to glaucoma. The rest are due to other eye conditions like glaucoma, retinopathy and maculopathy.

In addition to this statistics, the current number of persons with bilateral low vision is 2,179,733 of which 43 percent (937,285) is due to EOR, 34 percent (741,109) cataract, and the rest is caused by glaucoma and other eye diseases.

Subscribe to INQUIRER PLUS to get access to The Philippine Daily Inquirer & other 70+ titles, share up to 5 gadgets, listen to the news, download as early as 4am & share articles on social media. Call 896 6000.

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DOH tells Pinoys: Avoid blindness, have your eyes checked ... - Inquirer.net

Courtesy of "Flesh of my Blood"

A slate of short films depicting lead characters with disabilities has been making the rounds at film festivals worldwide, giving voice to a demographic mostly ignored in mainstream cinema and TV. Blindness, Annette Cyrs impassioned study of a painter discovering she will lose her eyesight made waves at the Palm Springs Intl. Shortfest this June, along with Mari Sanders documentary short 80% Disabled, which exposes what life is like for a handicapped filmmaker yearning to live independently.

SEE MORE: From the August 01, 2017, issue of Variety

Flesh of My Flesh, written and directed by award-winning South African filmmaker Matthys Boshoff, has screened at numerous fests, including the 2017 Nashville Film Festival. The film is a haunting, heartbreaking and sometimes humorous semi-autobiographical look at a married couple whose lives are devastated when their daughter dies in a car accident and the mother is left paralyzed from the neck down. In real life, Boshoff, raised in Pretoria, South Africa, was in a car accident at age 4 that took the life of his older sister.. His mother became a quadriplegic and his father her caretaker.

What was interesting to me, in the context of a romantic relationship, was what happens when you get committed to somebody with an able body and then suddenly life happens and youve got to deal with it, says Boshoff, whos currently at work on the feature-length version of the film. Where you often have the attention and the empathy and sympathy going towards the person who had the accident or has the disability, often its the caretaker who suffers the greatest psychological stress and is the most strained.

In her film Still Sophie, which also screened at Nashville and won best documentary at the Red Dirt Film Festival, filmmaker Caroline Knight wanted to explore the effects of aphasia, the impairment of language and communication due to a brain injury, usually a stroke, on the life of 19-year-old singer Sophie Salveson. With a run-time of seven minutes, the film, produced by Chad McClarnon, is a precise and inspiring look at the power of will and determination over medical diagnosis.

Shes so expressive and I still feel like I understand everything shes trying to say despite the aphasia holding back her words, says Knight, whose mother is Salvesons speech therapist. Shes still Sophie its all in the title. Shes still there and shes everything she was before the stroke. This thing has changed the course of her life, but shes still very much creative and bright and one of the funniest people I know.

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Filmmakers Strive to Raise Awareness of the Disabled in Entertainment With Fully-Formed Characters - Variety

Evils origins hit close to home.

Every monster has a mother. Every act of violence that has ever been perpetrated by one human being upon another or others every single one, minor or major has been done so by the son or daughter of someone, to the son or daughter of someone else. And in the eyes of a mother, our faults are opportunities, our flaws are our uniquity, and our damage is never our responsibility, it is the result of a world that doesnt understand us.

This is the narrative perspective that launches The Sunshine Boy, a three-minute, rotoscope-animated short film from writer/director Naaman Azhari. Inspired by real and all too-common events, the film consists of a mothers voiceover about her artistic, sensitive, and perhaps misunderstood son, a high school student. As she dotes on his distinctions, we see his side of these emotions and the horror they unleash.

The Sunshine Boy isnt the most novel narrative out there, but its not supposed to be, part of its point is how frighteningly regular such depicted events are. What is unique and captivating about the film is its perspective, one that shows us how a mothers love is unwavering, but also blinding.

Source: Short of the Week

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Short of the Day: 'The Sunshine Boy' Reveals the Blindness Caused by a Mother's Love - Film School Rejects

In genetics, a mosaic (or mosaicism) means the presence of two different genotypes in an individual which developed from a single fertilized egg. As a result, the individual has two or more genetically different cell lines derived from a single zygote.[1]

Mosaicism may result from:

The phenomenon was discovered by Curt Stern. In 1936, he demonstrated that recombination, normal in meiosis, can also take place in mitosis.[2] When it does, it results in somatic (body) mosaics. These are organisms which contain two or more genetically distinct types of tissue.[3]

A genetic chimera is an organism composed of two or more sets of genetically distinct cells. Dispermic chimeras happen when two fertilized eggs fuse together. Mosaics are a different kind of chimerism: they originate from a single fertilized egg.

This is easiest to see with eye colours. When eye colours vary between the two eyes, or within one or both eyes, the condition is called heterochromia iridis (= 'different coloured iris'). It can have many different causes, both genetic and accidental. For example, David Bowie had the appearance of different eye colours due to an injury that caused one pupil to be permanently dilated.

On this page, only genetic mosaicism is discussed.

The most common cause of mosaicism in mammalian females is X-inactivation. Females have two X chromosomes (and males have only one). The two X chromosomes in a female are rarely identical. They have the same genes, but at some loci (positions) they may have different alleles (versions of the same gene).

In the early embryo, each cell independently and randomly inactivates one copy of the X chromosome.[4] This inactivation lasts the lifetime of the cell, and all the descendants of the cell inactivate that same chromosome.

This phenomenon shows in the colouration of calico cats and tortoiseshell cats. These females are heterozygous for the X-linked colour genes: the genes for their coat colours are carried on the X chromosome. X-inactivation causes groups of cells to carry either one or the other X-chromosome in an active state.[5]

X-inactivation is reversed in the female germline, so that all egg cells contain an active X chromosome.

Mosaicism refers to differences in the genotype of various cell populations in the same individual, but X-inactivation is an epigenetic change, a switching off of genes on one chromosome. It is not a change in the genotype.[6] Descendent cells of the embryo carry the same X-inactivation as the original cells. This may give rise to mild symptoms in female 'carriers' of X-linked genetic disorders.[7]

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Mosaic (genetics) - Simple English Wikipedia, the free ...

THE NEWS that researchers have carried out the first known attempt to create genetically modified human embryos is another signpost in an astounding revolution unfolding before our eyes. This is not the first breakthrough nor will it be the last, but it should serve as a reminder an unmistakable one that this realm of scientific inquiry, manipulating the tiny building blocks of life, demands caution as well as enthusiasm and encouragement.

The latest effort, led by Shoukhrat Mitalipov of Oregon Health & Science University, with researchers from South Korea, China, the Salk Institute for Biological Studies in California and others, involved editing the DNA of single-cell embryos with CRISPR-Cas9, a tool for genome engineering that is much simpler, faster and cheaper than earlier methods, and which has sparked an explosion of interest in possible applications. According to a report published Wednesday in the journal Nature, the researchers were able to demonstrate that it is possible to safely and efficiently correct defective genes that cause inherited diseases.

The embryos they modified were not allowed to develop for more than a few days and were not implanted in a womb. In earlier research in China, the modified DNA was taken up by only some cells, not all, and suffered other setbacks, raising questions about its effectiveness. The latest research team reports it achieved efficiency, accuracy and safety with the approach.

If so, the research may be yet another step toward what is called germline engineering, or changing the genetic material in reproductive cells, so that any offspring would pass the changes on to future generations. The potential impact is huge; thousands of inherited diseases are caused by mutations in single genes, so editing the germline cells of individuals who carry these mutations could allow them to have children without the risk of passing on the conditions.

But the dangers and concerns are also significant. The technique could be used to enhance human traits beyond just eradicating disease, such as creating designer babies, or for other malevolent purposes. Genome editing was singled out for concern in a 2016 report to Congress from the U.S. intelligence community about potential wordwide threats: Given the broad distribution, low cost, and accelerated pace of development of this dual-use technology, its deliberate or unintentional misuse might lead to far-reaching economic and national security implications.

In a report this year, a panel of the National Academy of Sciences addressed the potential and the risks of germline engineering, concluding that basic research should proceed, closely watched. But the panel also said, Do not proceed at this time with human genome editing for purposes other than treatment or prevention of disease and disability. This seems to us to strike a reasonable balance, but one that will require vigilance transparency, oversight and public awareness to ensure the fruits of this remarkable revolution are not somehow abused or misused.

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A life-changing genetics breakthrough deserves celebration and demands caution - Washington Post

Personal genetics company 23andMe will be teaming up with the Milken Institute, a think tank, and pharmaceutical company Lundbeck to drive enrollment for a genetic study designed to grasp the underlying biology of major depressive and bipolar disorders.The study will combine cognitive assessments with genetic data and survey responses to assess how genes influence brain processes -- such as attention, decision-making and visual perception -- in individuals who live with these serious mental health conditions.In the United States alone, more than 16 million people are living with a major depressive disorder, according to the National Institute of Mental Health, while nearly 6 million Americans suffer from bipolar disorder. The causes of these disorders are largely unknown, but there are clues: research from the National Alliance on Mental Illness, for example, suggests major depressive and bipolar disorders are caused by a combination of genetic, biological and environmental factors. Other studies back up the hypothesis that theres a genetic component involved.In August 2016 a landmark study was published by 23andMe, Massachusetts General Hospital and Pfizer, detailing the scientific connection between genetics and depression, said Anna Faaborg, Research Communities manager at 23andMe. In that study, we identified 15 genetic regions that were linked to depression. However, even with recent scientific advancements, more research is needed to help accelerate our understanding of these conditions and drive medical discoveries forward. We want to expand on the genetic component, looking at additional phenotypic factors of depression and bipolar, to hopefully gain a more holistic understanding of these diseases.To conduct this research, 23andMe intends to recruit 15,000 people with major depressive disorder and 10,000 people with bipolar disorder. The study is open to anyone aged 18 to 50 who has been diagnosed with major depressive disorder or bipolar disorder, has been prescribed medication to treat his/her condition, lives in the United States and has access to the internet through a desktop or laptop computer.This study is the first to combine data from genetics, cognitive tests and online surveys at this scale, said Faaborg. The hope is to gain a greater understanding of how genetics is related to brain functions such as attention, decision-making and reaction time. This knowledge of the biological underpinnings of disease could ultimately inform the development of novel, disease-modifying therapies.As part of the study, consenting participants will receive the 23andMe Personal Genome Service at no cost, including more than 75 personalized genetic reports about their health, traits and ancestry. Theyll provide a saliva sample for DNA genotyping, and then complete nine monthly online cognitive assessment sessions each lasting between 10-30 minutes. Participants de-identified data will be analyzed for clues as to how genetics and environmental factors combine to impact their brain function and behavior.Participants will receive regular updates about the progress of the study via email or newsletters. If there is a publishable result from the study, 23andMe will publish that information in a peer-reviewed journal and make it open access for all those interested in learning about the findings.At this early stage, we cannot anticipate where the data will lead us or exactly which analyses will be performed, said Faaborg.The study will build on 23andMes body of research in mood disorders. Its launch furthers the companys genetic discovery efforts with research collaborations already established in Parkinsons disease, lupus and inflammatory bowel disease, and more than 75 peer-reviewed papers published in scientific journals

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23andMe to launch study exploring role of genetics in depression, bipolar disorders - MobiHealthNews