StemCell Therapy

THE longtime friend of a man who was airlifted after being shot in the eye has raised 1,150 to support airborne lifesavers - through another shoot.

Brian Cook, 64, arranged a charity clay pigeon shoot on the top of Carlton Bank in the North York Moors, on behalf of his friend Jim Harding, 63.

In October 2014, Mr Harding was working on a shoot on the Danby Estate, where he has worked for more than 30 years.

And the incident happened when firing started before father-of-one Mr Harding was in position - and as a result he had not put on his safety glasses.

One of the pellets hit him in the left eye which severed the optic nerve and damaged his vision, causing him to lose his sight in that eye.

Mr Harding, from Whitby, said: A gentlemen shot in my direction, and when I heard the shot, I wondered what was that? and then I turned round and another shot was fired and I could see it coming towards me before it hit me in the eye.

"It happened in an instant, and felt like when you get something caught in your eye.

I was situated two miles from the road, so this is just one example of why we need air ambulances.

"If we didnt have them, a lot of people probably wouldnt get to hospital in time."

Mr Harding was airlifted to the James Cook University Hospital in Middlesbrough, but despite everyones best efforts, he lost the sight in one eye.

However he still wanted to thank the Great North Air Ambulance so he and his son Sam Harding, 38, asked Mr Cook to help them arrange a clay pigeon shoot to raise money for the charity.

Mr Cook, 64, said: Ive organised clay pigeon shoots in the past, so when Jim and Sam asked if I would put one together for GNAAS I obviously said yes.

My daughter has been airlifted twice after being in horse riding accidents, and its surprising how many of her riding friends have also fallen and required the assistance of the air ambulance.

I really appreciate the service the air ambulance provides as you never know when you are going to need it.

The shoot will now be held annually with the winner's name engraved on a shield.

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Shot in the eye - but still aiming to help, Whitby man rising cash for the Great North Air Ambulance - The Northern Echo (registration)

Like millions of other people, Wanda Diaz Merced plans to observe the August 21 total solar eclipse, when the moons shadow will sweep across the sun and, for a few brief moments, coat parts of the United States in darkness. But she wont see it. Shell hear it.

Diaz Merced, an astrophysicist, is blind, with just 3 percent of peripheral vision in her right eye, and none in her left. She has been working with a team at Harvard University to develop a program that will convert sunlight into sound, allowing her to hear the solar eclipse. The sound will be generated in real time, changing as the dark silhouette of the moon appears over the face of the bright sun, blocking its light. Diaz Merced will listen in real time, toowith her students at the Athlone School for the Blind in Cape Town, South Africa, where she teaches astronomy.

Its an experience of a lifetime, and they deserve the opportunity, Diaz Merced said.

To capture the auditory version of this astronomical event, the team turned to a piece of technology measuring only a couple inches long: the Arduino, a cheap microcomputer popular with tech-savvy, DIY hobbyists. With a few attachments, Arduinos can be used to create all kinds of electronic devices that interact with the physical world, from the useful, like finger scanners that unlock garage doors, to the silly, like motion-detecting squirt guns. Diaz Merceds collaborators equipped an Arduino with a light-detecting sensor and speaker, and programmed it to convert light into a clicking noise. The pace of the clicks varies with the intensity of the sunlight hitting the sensor, speeding up as it strengthens and slowing down as it dims. In the moments of totality, when the suns outer atmosphere appears as a thin ring around the shadow of the moon, the clicks will be a second or more apart.

Allyson Bieryla, an astronomy lab and telescope manager at Harvard, will operate the Arduino from Jackson Hole, Wyoming, inside the path of totality. She will stream the audio on a website online, which Diaz Merced will open on her computer in Cape Town.

So far, Bieryla says, the real challenge has been trying to find a light sensor thats sensitive enough to get the variation in the eclipse. In totality, the sun will appear about as bright as a full moon at midnight. The team has tested the Arduino at night, under the moonlight, to make sure it can pick up the faint luminosity.

Diaz Merced, a postdoctoral fellow at the Office of Astronomy for Development in South Africa, was diagnosed with diabetes as a child. In her early 20s, when she was studying physics at the University of Puerto Rico, she was diagnosed with diabetic retinopathy, a complication of the disease that destroys blood vessels in the retina. Her vision began to deteriorate, and a failed laser surgery damaged her retinas further, she said. By her late 20s, she was almost completely blind. She recalls watching a partial solar eclipse in 1998 in Puerto Rico, when she still had some sight.

I was able to experience the wonderfulnessof the sun being dark, of having a black ball in the sky, she said. That is why it is important to use the sound in order to bring an experience that will bring that same feeling to people who do not see or are not visually oriented.

While Diaz Merced experiences the eclipse from a classroom in Cape Town, Tim Doucette will observe the event at a campground in Nebraska, smack-dab in the path of totality. Doucette is a computer programmer by day and an amateur astronomer by night. He runs a small observatory, Deep Sky, near his home in Nova Scotia in a sparsely populated area known for low light pollution and star-studded night skies.

Doucette is legally blind, and has about 10 percent of his eyesight. He had cataracts as a baby, a condition that clouds the lenses of the eye. To treat the disease, doctors surgically removed the lenses, leaving Doucette without the capacity to filter out certain wavelengths. His eyes are sensitive to ultraviolet and infrared light, and he wears sunglasses during the day to protect his retinas. Without shades, Doucette said he cant keep his eye open in the brightness of day. But at night, his sensitivity becomes an advantage. With the help of a telescope, Doucette can see the near-infrared light coming from stars and other objects in the sky better than most people.

My whole life, Ive always been asking people for help, saying, hey, what do you see? Doucette said. When I stargaze with people, the tables are reversed.

Doucette sees best at night, safe from the glare of the sun. He uses starlight to guide him during the short walk from his observatory to his home. When Im walking down the road, especially during the summer months, the Milky Way is just this incredible painting going from north to south, he said. Its millions and millions of points of light. Its like a tapestry of diamonds against a velvety background.

Doucette, armed with his camera equipment, will observe the eclipse with dozens of members of the Royal Astronomical Society of Canadas Halifax Center, an association of amateur and professional astronomers. He has only witnessed partial solar eclipses in the past. It should be quite interesting to see what the effect is because of my sensitivity, he said. During totality, when day becomes night, some objects in the sky may become visible, thanks to his sensitivity to their light.

Doucette will wear eclipse sunglasses over his regular pair. Eclipse glasses protect the eyes from sunlight so viewers can look directly at it without hurting their eyes, and they can be bought online for a few dollars. Doucette urged eclipse viewers to use them, citing stories hed heard of people looking at the sun during an eclipse and waking up blind the next morning, their retinas burned. The shades are necessary before and after totality, when the sun is only partially eclipsed and a thin crescent shines with typical intensity.

Once the eclipse is in totality for about two and a half minutes, Im told that its safe to take the glasses off, but Im not willing to risk it, Doucette said. Ill still keep my sunglasses on either way.

More here:
How Blind Astronomers Will Observe the Solar Eclipse - The Atlantic

Reading, writing and arithmetic these are the basic skills students must learn. But with poor eyesight hindering their learning process, they struggle to keep up in school, which in turn leads to difficulties in entering the workforce.

In order to reduce, if not eliminate, this problem, Essilor Vision Foundation has joined forces with leading actor and Essilor Philippines brand ambassador Piolo Pascual to launch the Eye Can Succeed campaign, which seeks to make better vision available to 10,000 Filipino students.

EVF kicked off the advocacy campaign at Rizal High School. With the assistance of volunteer optometrists, EVF examined 4,000 Grades 11 and 12 students and distributed free prescription glasses to students who were in need.

It is alarming to learn that many of our target public school students have never had their eyes checked up at all, shared Lauren Wyper, EVF associate director of communications.

She continued, Launching the Eye Can Succeed campaign here in the Philippines not only helps fulfill the foundations mission of enabling Filipinos to have better lives through better sight, but also enables us to spread awareness on the importance of proper eye care through an expanded network consisting of academic institutions, the media, and local campaign ambassador Piolo Pascual.

With his presence, Pascual showed his support for the companys advocacy.

Education plays a huge role in the future of young Filipinos, and poor eyesight will only hinder their progress in learning. By giving them thorough eye check-ups and access to free prescription eyeglasses, they will no longer struggle with vision problems in their lessons, allowing their natural intelligence to shine through, the actor said.

EVF is committed to eliminating poor vision and its lifelong consequences, and to providing underprivileged people the opportunity to live a better life through better sight.

For more information about EVF and the Eye Can Succeed advocacy campaign, visit http://www.essilor.com.ph, and follow @EssilorPH on Facebook, Twitter and Instagram.

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Better vision for better lives - The Standard

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This website http://www.cellmedicine.com offers patients, doctors and scientists the opportunity to connect to licensed doctors who use adult stem cells as part of their clinical practice outside of the United States and Canada. Because stem cell therapy is not the standard of care in the US or Canada, the following important disclosures are made:

1) The Stem Cell Institute is not conducting free clinical trials at this time.2) Health insurance will not cover the treatment fees.3) The Stem Cell Institute does not provide itemized bills.

Treatments include from 3 to 16 separate stem cell infusions/injections over the course of 4 to 30 days depending upon the protocol employed. A fee will be quoted once your treatment protocol has been determined.We DO NOT treat:

JavaScript is disabled! Please enable JavaScript and then reload this form before you begin. If you cannot do this on your own, please call 1-800-980-STEM and we will arrange for someone to email an application to you. Thank you.

To access the application you must first agree that you have read and understand all of the statements above.

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Stem Cell Therapy || Patient Treatment Disclaimer || Stem ...

Rosalie Currier

Joel and Anna Troyer of Burr Oak are doing whatever it takes to help their 4-year-old son, Landry, live a normal life.

Landry has neuro immune dysfunction syndrome, an illness that causes autistic-like symptoms.

Because the treatment is expensive, for a second year, Tobey Schwartz is hosting Birdies for Landry, a golf scramble Aug. 19 at the St. Joe Valley Golf Club.

Schwartz a cousin of Joel, said, Joels like a brother to me. I would do anything for him and he would do anything for me.

Schwartz isnt the only one who wants to help. When Doug Smith of the Burr Oak High School class of 1987 heard about the golf scramble, he sprang into action.

Hole-in-one sponsorship

Smith works for the Henkle Auto Group in Battle Creek where the new car division of Chrysler, Dodge, Jeep, Ram sponsors hole-in-one contests for local golfing fundraisers.

The dealership approved the Birdies for Landry golf scramble and are providing some big-ticket prizes.

At three holes, golfers will have the opportunities to win a prize specific for the hole:

Smith said he hopes to gather a group and join the golf scramble himself.

The golf scramble

The scramble is from 2-6 p.m. Aug. 19, includes a meal catered from Yoder's Country Market, Centreville and raffle prizes.

The cost is $200 per team with a $400 prize for the winning team and the hole-in-one package.

There is still room for businesses and individuals wishing to sponsor a hole at $100 each or to donate raffle items. All hole sponsorships and prize donations are tax deductible as it is sponsored through Freedom Center Ministries in Centreville.

Raising awareness

Not only does Schwartz want to support his brother/cousin financially, he respects that Joel is trying to raise awareness of NIDS to help others.

This Little League season, Joel helped Schwartz who was coaching a team with an autistic player. With Joel advise things were going as well as could be expected.

However, during championship playoffs, the Little League player was so overwhelmed by the crowd and the noise he went to his parents car for refuge.

Schwartz explained the situation to the other coaches who were extremely supportive. When the autistic athlete came up to bat, the opposing coaches quieted the crowd.

All the players and audience responded by going silent for his sake. The young player made a hit (his second for the season) which allowed for the winning run for Schwartzs team.

I was bawling, Schwartz said, being so overwhelmed by the support. Now Joel is in contact with the boys mother offering possible hope.

Therapy

Schwartz plans to make Birdies for Landry an annual golf scramble until Landry is out of speech therapy, off the medications and through several more umbilical cord blood stem cell therapies at the Stem Cell Institute in Panama City, Panama, Joel said.

On July 22, the Troyer family returned from Panama City, Panama after Landry's first Mesenchymal Stem Cell therapy at the Panama Stem Cell Institute.

We've seen some pretty significant improvements already and more are expected over the next 5-9 months as the cells multiply and grow in his body,Joel said.

However, the cells are fragile and will lose their effectiveness in 10 months to a year so the Troyers plan to return to Panama for more therapy.

Landry is also in speech and Applied Behavior Analysis therapy. The therapists have noted significant improvements since the stem cell therapy.

They see that Landry has an improved ability to follow direction, a willingness to try new foods, improved eye contact, appropriate laughter, more babbling, singing and attempts at language and words.

Landry also started swimming on his back and underwater while in Panama, Joel said. He started jumping in deep water on his own without someone to catch him.

Twice hes tried to swing a baseball bat when the ball was pitched to him, although he previously wouldn't hold a bat.

And hes been involved in interactive play with his sister Cora, and parallel play with other children, Joel said.

Landry is a patient of Dr. Michael Goldberg of Los Angeles and Dr. Ann Auburn in Grand Rapids for treatments to help with gut and immune health, Joel said.

Along with Landry, the Troyers have Cora Jo, 3, and Audra Rose, nine months old.

For more information contact, Tobey Schwartz at (260) 336-8713 or Joel Troyer at (269) 503-3959.

See the rest here:
Birdies for Landry fundraiser golf outing set - Sturgis Journal

Photo: The Canadian Press

UPDATE: Thursday 6 a.m.

A second body was found in the rubble of a collapsed school building in Minneapolis after an explosion killed a school employee and injured several others, fire officials said Wednesday night.

City Fire Chief John Fruetel said the body was recovered around 8 p.m. Wednesday at the Minnehaha Academy. Fruetel said the medical examiner's office is working to notify relatives.

The blast occurred in a utility as students were playing soccer and basketball at the private Christian school, which serves students from pre-kindergarten through 12th grade, according to fire and school officials.

Contractors were working on one of the campus' buildings at the time of the blast, which investigators believe was caused by a natural gas explosion, said Assistant Minneapolis Fire Chief Bryan Tyner.

The explosion killed Ruth Berg, a receptionist for 17 years at the school who "welcomed everyone with a smile," the school said in a statement.

John Carlson, a part-time janitor known for giving Dilly Bars to students, was reported missing. The 81-year-old attended the school as a child, sent his own children there, and was like a grandfather figure to students, school officials said.

ORIGINAL: Wednesday 4 p.m.

One school staff member has been found dead and another is still missing following a natural gas explosion Wednesday at a private school in Minneapolis, authorities said.

The body was found in the rubble of a building that partially collapsed during the explosion at the Minnehaha Academy, Minneapolis Fire Chief John Fruetel said during a news conference. The Christian school serves students from pre-kindergarten through 12th grade.

Both individuals worked at the school, according to the Minneapolis Fire Department. No other details were immediately released.

Contractors were doing work on the building at the time of the blast, which investigators determined was caused by a gas explosion, according to Assistant Fire Chief Bryan Tyner.

Four people remained hospitalized late Wednesday, including one in critical condition, at Hennepin County Medical Center in Minneapolis, according to the hospital. Victims suffered injuries ranging from head injuries and broken bones to cuts from debris, according to Dr. Jim Miner, the hospital's chief of emergency medicine.

Aerial video footage of the school's campus showed part of a building crumbled, windows in other areas blown out and shattered, and bricks and other debris scattered about. Three people were rescued from the roof of the building shortly after the explosion and fire, Tyner said.

Original post:
Deadly school explosion - Castanet.net

It's rare for researchers to discover a new class of drugs, but a University of Calgary microbiology professor recently did so -- by accident and now hopes to revolutionize autoimmune disease treatment.

In 2004, Dr. Pere Santamaria and his research lab team at the Cumming School of Medicine conducted an experiment to image a mouse pancreas, using nanoparticles coated in pancreatic proteins.

The work didnt go as planned.

Our experiment was a complete failure, he recently told CTV Calgary. We were actually quite depressed, frustrated about the outcome of that.

But the team was surprised to discover the nanoparticles had a major effect on the mice: resetting their immune systems.

The team realized that, by using nanoparticles, they can deliver disease-specific proteins to white blood cells, which will then go on to reprogram the cells to actively suppress the disease.

Whats more, the nanoparticles stop the disease without compromising the immune system, as current treatments often do.

Santamarias team believes nanomedicine drugs can be modified to treat all kinds of autoimmune and inflammatory diseases, including Type 1 diabetes, multiple sclerosis and rheumatoid arthritis.

Convinced that nanomedicine has the potential to disrupt the pharmaceutical industry, Santamaria founded a company to explore the possibilities, called Parvus Therapeutics Inc.

This past spring, Novartis, one of the worlds largest pharmaceutical companies, entered into a license and collaboration agreement with Parvus to fund the process of developing nanomedicine.

Under the terms of the agreement, Parvus will receive research funding to support its clinical activities, while Novartis receives worldwide rights to use Parvus technology to develop and commercialize products for the treatment of type 1 diabetes.

Its a good partnership, Santamaria said in a University of Calgary announcement. Bringing a drug to market requires science as well as money.

Santamaria cant say how long it might be before nanomedicine can be used to create human therapies, but he says everyone involved is working aggressively to make it happen.

With a report from CTV Calgarys Kevin Fleming

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'Nanomedicine': Potentially revolutionary class of drugs are made-in ... - CTV News

When Dr. Pere Santamaria arrived in Calgary in 1992 to join the Cumming School of Medicine, he never could have imagined he would make a groundbreaking discovery that would lead to a spinoff company. When I arrived, I found out that the grant money I was expecting hadnt come through, says Santamaria, a professor in the Department of Microbiology, Immunology and Infectious Diseases and member of the Snyder Institute for Chronic Diseases. So I had an empty lab with no research assistants and no salary. I had to beg my supervisor to give me $10,000 to start my research.

Despite the rocky start, Santamaria has achieved something many scientists dream of making a discovery that has practical applications for health care. Santamarias discovery revolves around the use of nanoparticles coated in proteins to treat autoimmune and inflammatory disorders.

They can be modified for different diseases, such as Type 1 diabetes, multiple sclerosis and rheumatoid arthritis without compromising the entire immune system, Santamaria explains. Instead, they basically work to reset the immune system.

Nanomedicines unique mechanism has the potential to disrupt the pharmaceutical industry entirely. Developing a new class of drugs is rare. With the assistance of Innovate Calgary, Santamaria started a company, Parvus Therapeutics Inc., to represent the technology and explore ways of bringing it to market. Announced in April 2017, Parvus entered into an exclusive deal with the Swiss pharma giant Novartis, hopefully leading to the development and commercialization of Parvuss nanomedicine to treat Type 1 diabetes.

Its a good partnership, Santamaria says. Bringing a drug to market requires science as well as money.

Supporting commercialization should be a top priority for all research, he continues. Our biggest responsibility is to the patients and making sure they have access to the medicine they need. With that in mind, Santamaria shares his insight for other researchers who may be interested in bringing their discoveries from the lab bench to the market.

If youre interested in investigating spin-out opportunities, get in touch with Innovate Calgary, which offers mentors, coaching, business skill development programs, intellectual property services and other back-office support.

Throughout the years, Santamarias work has been funded by numerous organizations, including Diabetes Canada, the Juvenile Diabetes Research Foundation, the Canadian Institutes of Health Research (CIHR) and the Diabetes Association, Foothills.He is a member of the Snyder Institute and associate member of the Hotchkiss Brain Institute.Santamaria named his company Parvus from the Greek word meaning small.

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UCalgary researcher signs deal to develop nanomedicines for ... - UCalgary News

BETHESDA, Md., Aug. 4, 2017 /PRNewswire-USNewswire/ --Madhuri Hegde, PhD, FACMG of PerkinElmer, Inc. in Waltham, MA has been elected to the ACMG Foundation for Genetic and Genomic Medicine Board of Directors, the supporting educational foundation of the American College of Medical Genetics and Genomics. The ACMG Foundation is a national nonprofit foundation dedicated to facilitating the integration of genetics and genomics into medical practice. The board members are active participants in serving as advocates for the Foundation and for advancing its policies and programs. Dr. Hegde has been elected to a 2-year renewable term starting immediately.

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 rel="nofollow">acmgf@acmgfoundation.org or 301-718-2014.

Contact Kathy Beal, MBA ACMG Media Relations, rel="nofollow">kbeal@acmg.net

View original content with multimedia:http://www.prnewswire.com/news-releases/madhuri-hegde-phd-is-elected-to-the-board-of-the-acmg-foundation-for-genetic-and-genomic-medicine-300499860.html

SOURCE American College of Medical Genetics and Genomics

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Madhuri Hegde, PhD is Elected to the Board of the ACMG Foundation for Genetic and Genomic Medicine - Markets Insider

by Brandon Voss 4h ago

Baby, were you born this way?

AsapSCIENCE duo Mitchell Moffit and Gregory Brown explore the genetics of being gay in their latest myth-busting YouTube video.

Ultimately, a specific gay gene has not been found, but scientific evidence does suggest that human sexual orientation is strongly linked to genetics and tightly regulated at the molecular level, the guys say.

While unpacking their many findings, you may be surprised to learn that gay men have more gay relatives than straight men do. Gay people are also more likely to have gay siblings who share similar linkages on their chromosomes.

But gay people dont reproduce as much as straight people, so shouldnt they die out? A controversial UCLA study using twins proposed that everyone has the gay gene, even if its not triggered. And according to the Gay Uncle Hypothesis, gay members of a family that dont reproduce still increase the prevalence of their familys genes in future generations by helping to provide resources for offspring that theyre related to.

Putting genetic manipulation into more of a social context, Moffit and Brown also made a companion video in which they address the LGBT communitys fears about this type of research, pointing out that the Nazis tried to understand the biology behind homosexuality in order to eliminate it.

Could genetic research be used against gay people in the future? In theory, absolutely. There may not be a gay gene, but from a biological perspective, yes, being gay is likely highly controlled by genetics, Brown says.

Moffit, however, believes that the community will benefit from research that proves being gay is not a choice. The more we can understand the genetic background of homosexuality, the more we can mitigate the types of punishments that gay people are receiving around the world, he says.

Moffit and Brown came out to their followers as gay and a couple in 2014.

Geek out over gay genetics below.

Celebrity interviewer. Foodie and Broadway buff in Manhattan. Hates writing bios.

The rest is here:
Is There Really A Gay GeneAnd Can You Get Rid Of It? - NewNowNext

Scientists have successfully edited the DNA of human embryos to erase a heritable heart condition that isknown for causingsudden death in young competitive athletes, cracking openthe doors toa controversial new era in medicine.

This is the first time gene editing on human embryos has been conducted in theUnited States. Researcherssaid in interviews this weekthat theyconsider their work very basic. The embryos were allowed to grow for only a few days, and there was never any intention to implant them to create a pregnancy. But they also acknowledged that they will continue to move forward with the science, with theultimate goal of being able to correct disease-causing genes in embryos that will develop into babies.

News of the remarkable experiment began to circulate last week, but details became public Wednesday with a paper in the journal Nature.

The experiment is the latest example of how the laboratory tool known as CRISPR (orClustered Regularly Interspaced Short Palindromic Repeats), a type of molecular scissors, is pushing the boundaries of our ability to manipulate life, and it has been receivedwith both excitement and horror.

The most recent work is particularly sensitive because it involves changes to the germ line that is, genes that could be passed on to future generations. The United States forbids the use of federal funds for embryo research, and theFood and Drug Administration is prohibited from considering any clinical trials involving genetic modifications that can be inherited. A report from the National Academies of Sciences, Engineering and Medicine in February urged caution in applying CRISPR to human germ-line editingbut laid out conditions by whichresearch should continue. The new study abides by those recommendations.

This animation depicts the CRISPR-Cas9 method for genome editing a powerful new technology with many applications in biomedical research, including the potential to treat human genetic disease or provide cosmetic enhancements. (Feng Zhang/McGovern Institute for Brain Research/MIT)

Shoukhrat Mitalipov, one of the lead authors of the paper and a researcher at Oregon Health & Science University, said that he is conscious ofthe need for a larger ethical and legal discussion about genetic modification of humans but that his team's work isjustified because it involves correcting genes rather than changing them.

Really we didnt edit anything. Neither did we modify anything, Mitalipov said. Our program is toward correcting mutant genes.

Alta Charo, a bioethicist at the University of Wisconsin at Madison who is co-chair of the National Academies committee that looked at gene editing,said that concerns about the work that have been circulating in recent days are overblown.

What this represents is a fascinating, important and rather impressive incremental step toward learning how to edit embryos safely and precisely, she said. However, no matter what anybody says, this is not the dawn of the era of the designer baby. She said that characteristics that some parents might desire, such as intelligence and athleticism, are influenced by multiple genes and that researchers don't understand all the components of how such characteristics areinherited, much less have the ability to redesign them.

The research involved eggs from 12 healthy female donors and sperm from a male volunteer who carries the MYBPC3 gene, which causes hypertrophic cardiomyopathy. HCM is a disease that causes an abnormal thickening of the heart muscle butcan cause no symptoms and remain undetected until it causes sudden cardiac death. There's no way to prevent or cure it, and it affects1 in 500 people worldwide.

Around the time the sperm was injected into the eggs, researchers snipped out the gene that causes the disease. The result was far more successful than the researchers expected: As the embryo's cells began to divide and multiply, a huge number appearedto be repairing themselves by using the normal, non-mutated copy of the gene from the women'sgenetic material. In all, they saw that about 72 percent were corrected, a very high number. Researchers also noticed that theredidn't seem to be any off-target changes in the DNA, which has been a major safety concern ofgene-editing research.

Mitalipov said he hoped the technique could one day be applied to a wide variety of genetic diseases and that one of the team'snext targets may be the BRCA gene mutation, which is associated with breast cancer.

The first published work involving human embryos, reported in 2015, was done in Chinaand targeted a gene that leads to theblood disorder beta thalassemia. But those embryos were abnormal and nonviable, and there were far fewer than the number used in the U.S. study.

Juan Carlos Izpisua Belmonte, a researcher at the Salk Institute who is also a co-author on the new study, saidthat there are many advantages to treating an embryo rather than a child or an adult. When dealing with an embryo in its earliest stages, only a few cells are involved, while in a more mature human being there aretrillions of cells in the body and potentially millions that must be corrected to eradicate traces of a disease.

Izpisua Belmonte said that even if the technology is perfected, it could deal with only a small subset of human diseases.

Idont want to be negative with our own discoveries, but it is important to inform the public of what this means, he said. In my opinion the percentage of people that would benefit from this at the current way the world is rather small. For the process to make a difference, the child would have to be born through in vitro fertilization or IVF and the parentswould have to know the child has the gene for a disease to get it changed. But the vast majority ofchildren are conceived the natural way, and this correction technology would not work in utero.

For years, some policymakers, historians and scientists have been calling for a voluntary moratorium on the modification of the DNA of human reproductive cells. The most prominent expression of concern came in the form of a 2015 letter signed by CRISPR co-inventor Jennifer Doudna, Nobel Laureate David Baltimore and 16 other prominent scientists. They warned that eliminating a genetic disease could have unintended consequences on human genetics, society and even the environment far into the future.

On Wednesday,Marcy Darnovsky, executive director of the Center for Genetics and Society, warned that the O.H.S.U. research would result in fertility clinics offering genetic upgrades to those able to afford them.

Once those commercial dynamics kick in, we could all too easily find ourselves in a world where some peoples children are considered biologically superior to the rest of us, she said in a statement. We need to ask ourselves whether we want to add that new kind of excuse for extreme social disparities to the ones we already tolerate.

Researchers who worked on the heart-condition experiment appear to have differing views on where their work is headed.

Paula Amato, a reproductiveendocrinologist with O.H.S.U., was excited about the idea of being able to editout diseases before birth. She said that while pre-implantation genetic screening of embryos is now available, it isn't perfect.She talked about how one of her patients went through three cycles of in vitro fertilizationbut all theeggs that were harvested hadthegene mutation that causes diseases.

With gene correction technology, Amatosaid, we could have rescued some of those embryos.

ButIzpisua Belmonte said he is focusing on using thefindings from this study to further research into gene modifications during a pregnancy or after birth into adulthood.

Ifeel that the practical thing to do is deal with the diseases people have, not with the disease they may have, he said.

Mitalipov said he hopes regulators will provide more guidance on what should or should not be allowed.

Otherwise, he said, this technology will be shifted to unregulated areas, which shouldnt be happening.

This story has been updated.

Read more:

A new CRISPR breakthrough could lead to simpler, cheaper disease diagnosis

Scientists debate the ethics of CRISPR

Ethicists urge caution in applying CRISPR to humans

Jennifer Doudna ponders 'what it means to be human' on the frontier of gene editing

More:
First human embryo editing experiment in US 'corrects' gene for heart condition - Washington Post

A Stanford professor of genetics discusses the thinking behind a formal policy statement endorsing the idea that researchers continue editing genes in human germ cells.

A team of genetics experts has issued a policy statement recommending that research on editing human genes in eggs, sperm and early embryos continue, provided the work does not result in a human pregnancy.

Kelly Ormond, MS, professor of genetics at the Stanford School of Medicine, is one of three lead authors of the statement, which provides a framework for regulating the editing of human germ cells. Germ cells, a tiny subset of all the cells in the body, give rise to eggs and sperm. Edits to the genes of germ cells are passed on to offspring.

The statement, published today in the American Journal of Human Genetics, was jointly prepared by the American Society for Human Genetics and four other human genetics organizations, including the National Society of Genetic Counselors, and endorsed by another six, including societies in the United Kingdom, Canada, Australia, Africa and Asia.

Germline gene editing raises a host of technical and ethical questions that, for now, remain largely unanswered. The ASHG policy statement proposes that federal funding for germline genome editing research not be prohibited; that germline editing not be done in any human embryo that would develop inside a woman; and that future clinical germline genome editing in humans not proceed without a compelling medical rationale, evidence supporting clinical use, ethical justification, and a process incorporating input from the public, patients and their families, and other stakeholders.

Ormond recently discussed the issues that prompted the statement's creation with writer Jennie Dusheck.

Q: Why did you think it was important to issue a statement now?

Ormond: Much of the interest arose a couple of years ago when a group of researchers in China did a proof of principle study demonstrating that they could edit the genes of human embryos.

The embryos weren't viable [meaning they could not lead to a baby], but I think that paper worried people. Gene editing in human germ cells is not technically easy, and it's not likely to be a top choice for correcting genetic mutations. Still, it worried us that somebody was starting to do it.

We've been able to alter genes for many years now, but the new techniques, such as CRISPR/Cas9, that have come out in the past five years have made it a lot easier, and things are moving fast. It's now quite realistic to do human germline gene editing, and some people have been calling for a moratorium on such work.

Our organization, the American Society of Human Genetics, decided that it would be important to investigate the ethical issues and put out a statement regarding germline genome editing, and what we thought should happen in the near term moving forward.

As we got into the process, we realized that this had global impact because much of the work was happening outside of the United States. And we realized that if someone, anywhere in the world, were moving forward on germline genome editing, that it was going to influence things more broadly. So we reached out to many other countries and organizations to see if we could get global buy-in to the ideas we were thinking about.

Q: Are there regulations now in place that prevent researchers from editing human embryos that could result in a pregnancy and birth?

Ormond: Regulations vary from country to country, so research that is illegal in one country could be legal in another. That's part of the challenge and why we thought it was so important to have multiple countries involved in this statement.

Also, since 1995 the United States has had regulations against federal funding for research that creates or destroys human embryos. We worry that restricting federal funding on things like germline editing will drive the research underground so there's less regulation and less transparency. We felt it was really important to say that we support federal funding for this kind of research.

Q: Is germline editing in humans useful and valuable?

Ormond: Germline editing doesn't have many immediate uses. A lot of people argue that if you're trying to prevent genetic disease (as opposed to treating it), there are many other ways to do that. We have options like prenatal testing or IVF and pre-implantation genetic testing and then selecting only those embryos that aren't affected. For the vast majority of situations, those are feasible options for parents concerned about a genetic disease.

The number of situations where you couldn't use pre-implantation genetic diagnosis to avoid having an affected child are so few and far between. For example, if a parent was what we call a homozygote for a dominant condition such as BRCA1 or Huntington's disease, or if both members of the couple were affected with the same recessive condition, like cystic fibrosis or sickle cell anemia, it wouldn't be possible to have a biologically related child that didn't carry that gene, not unless germline editing were used.

Q: What makes germline editing controversial?

Ormond: There are families out there who see germline editing as a solution to some genetic conditions. For example, during a National Academy of Sciences meeting in December of 2015, a parent stood up and said, "I have a child who has a genetic condition. Please let this move forward; this is something that could help."

But I also work in disability studies, as it relates to genetic testing, and there are many individuals who feel strongly that genetic testing or changing genes in any way makes a negative statement about them and their worth. So this topic really edges into concerns about eugenics and about what can happen once we have the ability to change our genes.

Germline gene editing impacts not just the individual whose genes are edited, but their future offspring and future generations. We need to listen to all of those voices and try to set a path that takes all of them into account.

That's a huge debate right now. A lot of people say, "Let's not mess around with the germline. Let's only edit genes after a person is born with a medical condition." Treating an existing medical condition is different from changing someone's genes from the start, in the germline, when you don't know what else you're going to influence.

Q: There was a paper recently about gene editing that caused mutations in excessive numbers of nontargeted genes, so called "off-target effects." Did that result surprise you or change anything about what you were thinking?

Ormond: I think part of the problem is that this research is moving very fast. One of our biggest challenges was that you can't do a good ethical assessment of the risks and benefits of a treatment or technology if you don't know what those risks are, and they remain unclear.

We keep learning about potential risks, including off-target mutations and other unintended consequences. Before anyone ever tries to do germline gene editing in humans, it is very important that we do animal studies where the animals are followed through multiple generations, so that we can see what happens in the long term. There's just a lot that we don't know.

There are so many unknowns that we don't even know what guidelines to set. For example, what's an appropriate new mutation level in some of these technologies? What is the risk we're willing to take as we move forward into human studies? And I think those guidelines need to be set as we move forward into clinical trials, both in somatic cells [cells of the body, such as skin cells, neurons, blood cells] and in germline cells.

It's really hard because, of course, we're talking about, for the most part, bad diseases that significantly impact quality of life. So if you're talking about a really serious disease, maybe you're willing to take more risk there, and these new mutations aren't likely to be as bad as the genetic condition you already have. But we don't know, right?

We haven't had any public dialogue about any of this, and that's what we need to have. We need to find a way to educate the public and scientists about all of these issues so people can have informed discussions and really come together as this moves forward, so that were not in that reactive place when it potentially becomes a real choice.

And that goes back to your first question, which is why did we feel like we needed to have a statement now? We wanted to get those conversations going.

Explore further: 11 organizations urge cautious but proactive approach to gene editing

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Genetics expert discusses creating ground rules for human germline editing - Medical Xpress

by Johan Bester MBchB, PhD, MPhil and Eric Kodish MD

The case of Charlie Gard, a terminally ill British 11-month-old who passed away Friday, is deeply tragic for all involved: the parents who must try to come to terms with the fact that no curative therapy existed for their child; the physicians and nurses who have dedicated their lives to helping children and must continue to do what they think is best for the patient; and the judges who use phrases such as heaviest of hearts when handing down their judgments.

The tragedy is compounded when such cases become politicized, as has happened with Charlie.

Charlie was born with encephalomyopathic mitochondrial DNA depletion syndrome (MDDS), a rare genetic illness. Charlie suffered respiratory failure, muscle weakness, congenital deafness, encephalopathy, and eventual structural brain damage.

Charlies parents hoped to pursue an experimental treatment in the U.S. nucleoside therapy which has never been tried for Charlies variant of MDDS, but has shown some extension of life expectancy in patients with a different genetic variant of MDDS.

However, doctors at Londons Great Ormond Street Hospital did not believe this to be in Charlies best interest, and sought permission from the British courts to withdraw life-sustaining treatment and move Charlie to palliative care, where the focus would be on ensuring that his last days would be as comfortable as possible.

A lengthy series of court cases followed. At each stage at the High Court, the Supreme Court and to the European Court of Human Rights judges agreed that life sustaining treatment be withdrawn, that a palliative care approach should be followed, and that nucleoside therapy would be inconsistent with Charlies best interest. At this point, Charlie was considered to be terminally ill.

The court judgments explicitly rejected financial considerations as a basis for making the judgment, focusing instead on evidence of benefit versus harm and Charlies best interest.

As news coverage of the case exploded, it did not take long for coverage of the case to take on a political and ideological tone.

President Donald Trump and Pope Francis both offered to intervene to provide continued treatment to Charlie. Not long after, Vice President Mike Pence stated in an interview that Charlies parents were submitted to a government program that says, No, were going to remove life support from your precious 11-month-old child because the government has decided that the prospects of their life are such that they no longer warrant an investment in health services, and the American people ought to reflect on the fact that for all the talk on the left about single-payer, thats where it takes us.

Although the leaders on the left have been largely silent on Charlies case, some voices from the left responded with a rebuttal; some rightly pointed out that the central consideration in Charlies case had always been about Charlies best interests. Others went further, decrying the political vampirism of the right and defending universal healthcare systems.

The effect of all of this is to politicize the case.

Jonathan Haidt, an ethicist and social psychologist, tells us what happens in the psychology of politics: Otherwise reasonable people adopt a team mentality, us-against-them. When confronted with a politicized issue, they instinctively choose as their team would choose, and then come up with rational arguments to defend their choice afterwards.

Reasoned dialogue becomes less possible; people form into groups, aligned with their political tribe, becoming more and more entrenched in their respective ideologies.

Politicizing Charlie means that suddenly his case ceases to be about the suffering of a boy and his parents; it has been co-opted for a political and ideological purposes, complete with a set of villains who are ready to withhold from a child and parents what are rightly theirs.

It uses the emotion around the case to galvanize people towards a specific political goal. It now becomes about us against them. The facts of the case and the suffering caused is now almost incidental to what has become a political phenomenon.

In all of this, a greater tragedy occurs.

The case is used for a purpose that has nothing to do with those whose interests are at stake. Central to this case are grieving parents and healthcare professionals and, most importantly, a sick child. Because this case has now become a political football, their interests are compromised. The parents cannot grieve on their own; their every emotion, decision, and question is broadcast in the media and scrutinized by those who have an agenda.

It is hard for parents to come to terms with the loss of a child. It is even harder when they do it in public, and as the public faces of a political agenda. In the public discourse Charlies best interests take a back seat to the political purpose he serves. He has become an object rather than a person.

Politicizing such tragedies unnecessarily adds pain and angst to an already heartbreaking situation. The healthcare of children should not be a partisan issue, and it should not be politicized. Wherever one is on the political spectrum, what is best for the child should be the central consideration when making healthcare decisions for children.

What can we do to avoid politicizing future cases? First, we call for media restraint. It is difficult to report nuanced ethical and legal issues in medicine in a way that clarifies rather than confuses. If this cannot be done, it should not be done. Sensationalism should be avoided at all costs.

Second, we recommend that courts, hospitals and doctors adopt policies to keep things private that should be private. This is challenging, but should be thought through carefully.

Lastly, this case and others like it underlines the place for clinical ethics consultation in hospitals. In situations like these, clinical ethicists are invaluable at the bedside and on the hospital floor. Wed like to see clinical ethics consultation be part of every hospital.

Charlies case was not the first to be politicized; think of other high-profile cases such as the Sciavo case. In all such cases, tragedy is made worse by politicizing it. Let us hope that Charlies will be the last.

Johan Bester, MBchB, Ph.D., M.Phil., is the director of Bioethics at the UNLV School of Medicine, University of Las Vegas, Nevada. Eric Kodish, M.D., is a professor of Pediatrics and Bioethics at Cleveland Clinics Lerner College of Medicine.

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The Tragedy of Playing Politics with Children's Health - HuffPost

Chinas eagerness to use genetic enhancement technology has led some to suggest the deeply divisive issue could cause a new kind of Cold War conflict.

WELCOME to the brave new world of gene editing.

An international team of scientists in the United States have safely repaired a gene mutation that causes a heritable heart defect in human embryos sparking debate about the new frontier of genetic engineering.

The first-of-its-kind research, which was spearheaded by the Oregon Health and Science University and published last week in the journal Nature, could one day help families affected by inherited diseases.

I, for one, believe, and this paper supports, the view that ultimately, gene editing of human embryos can be made safe. Then the question truly becomes: If we can do it, should we do it? said Dr. George Daley, the dean of Harvard Medical School.

One major fear is that this kind human embryo modification could give rise to designer babies, allowing parents to pay for desirable traits they want in their kids. I think gene editing can be used to help people who are sick, Marcy Darnovsky, director of the Center for Genetics and Society said.

But the idea of using it on the front end to engineer a future generation we need to draw a bright line there.

She insisted that current embryo-screening technology, done routinely at in-vitro fertilisation clinics across America, already helps parents avoid passing on genetic diseases to their kids.

If youre worried about passing on some inherited disease, you can already do that without mucking around with your childs genes, she said.

David King, of the Human Genetics Alert, a UK-based organisation, said governments need to wake up and pass an immediate global ban on creating cloned or GM [genetically modified] babies before it is too late.

If irresponsible scientists are not stopped, the world may soon be presented with a fait accompli of the first GM baby, he said.

In this photo provided by Oregon Health & Science University, taken through a microscope, human embryos grow in a laboratory for a few days after researchers used gene editing technology to successfully repair a heart disease-causing genetic mutation.Source:AP

But Shoukhrat Mitalipov, an embryologist at OHSU who led the gene-editing experiment, said the research was about correcting genes that cause diseases, not altering them.

Really, we didnt edit anything. Neither did we modify anything, Mitalipov said. Our program is toward correcting mutant genes.

The researchers used a gene-editing tool called CRISPR-Cas9 which acts like a pair of molecular scissors to target a mutation that causes hypertrophic cardiomyopathy, a disease that weakens the heart and has led to the sudden deaths of many apparently healthy young athletes.

They then injected sperm from a donor with the heart disease, which affects 1 in 500 people worldwide, into eggs from 12 healthy patients, along with the genetic scissors to snip out the mutated gene. Scientists were surprised to discover the embryos then repaired themselves, taking a healthy copy of the gene from the egg as its cells began to multiply.

The embryos are really looking for the blueprint, Mitalipov said. Were finding embryos will repair themselves if you have another healthy copy.

All told, the experiment was successful in 42 of the 58 embryos used, about 72 per cent of the time.

Mitalipov now hopes the strategy could one day be used to prevent a slew of heritable diseases caused by gene mutations, which include Huntingtons disease and cystic fibrosis.

Every generation on would carry this repair because weve removed the disease-causing gene variant from that familys lineage, he said. By using this technique, its possible to reduce the burden of this heritable disease on the family and eventually the human population.

There have been previous attempts to edit embryos in China but those experiments were marred by a problem called mosaicism, which means some cells in the embryo still carry the mutation.

Mitalipov said they solved that problem by intervening before fertilisation. Everybody was injecting too late, he said.

But Chinas eagerness to use CRISPR technology has heightened concerns about designer babies and prompted some to suggest the deeply divisive issue of genetic enhancement could cause a new kind of Cold War conflict.

Shoukhrat Mitalipov, left, talks with research assistant Hayley Darby in the Lab. Mr Mitalipov led a research team that, for the first time, used gene editing to repair a disease-causing mutation in human embryos. Picture: Kristyna Wentz-Graff/Oregon Health & Science UniversitySource:AP

Scientists are still a long way off from taking their gene-editing experiments out of the lab and using them on pregnant women. There are safety concerns, of course, but also regulatory roadblocks in the US.

The National Institutes of Health doesnt fund research involving embryos, and Congress doesnt allow the FDA to consider any experiments that involve genetically modified human embryos. This experiment was financed by OHSU, the Institute for Basic Science in South Korea and others.

Particularly controversial is the idea of germ-line editing making precise genetic changes that can pass on to future generations.

Advances in technology have given us an elegant new way of carrying out genome editing, but the strong arguments against engaging in this activity remain, the NIH said in 2015.

These include the serious and unquantifiable safety issues, ethical issues presented by altering the germ line in a way that affects the next generation without their consent and a current lack of compelling medical applications justifying the use of CRISPR-Cas9 in embryos.

But more recently, the National Academies of Sciences, Engineering and Medicine took a softer approach, advising caution but not prohibiting germ-line editing.

We say proceed with all due caution, but we dont prohibit germ line after considerable discussion and debate, said Richard Hynes, an MIT biologist who chaired the review. Were talking only about fixing diseases.

Mitalipov said regulators should start giving more guidance on whats permissible especially since some scientists may resort to conducting their experiments in areas that dont have regulations. This technology will be shifted to unregulated areas, which shouldnt be happening, he told The Washington Post.

Mitalipov added that they could be interested in continuing their work in other countries, like the United Kingdom, NPR reported.

Medical ethicist Arthur Caplan said the technology is still at embryonic stages in terms of developing legal guidelines. Who should own genetic-engineering techniques, and what, if any, requirements will they have to make the taxpayer-funded research that made this possible available and accessible at affordable prices? said Caplan, founder of the Division of Medical Ethics at NYU School of Medicine.

This article originally appeared on The New York Post.

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Inside researchers' amazing and terrifying gene editing discovery - NEWS.com.au

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

Israeli genetic researchers have opened the door to new avenues of medical innovation with their research into the role that RNA plays in gene regulation.

Genomes, a complete set of genes, are divided into two categories: coding DNA and noncoding DNA (known as RNA). Dr. Ramon Birnbaum, co-founder of Ben-Gurion University of the Negevs Center for Evolutionary Genomics and Medicine (EGM), had long been fascinated with the latter. His pioneering research found that noncoding DNA, once labeled junk, plays an essential role in gene regulation.

His research focuses on understanding gene regulation during the brains development and specifically in early onset epilepsy. He explains why diagnosis and treatment can be difficult in infants: The symptoms can look the same, but the causes can be very different. Diving into the mechanisms that cause genes to express or not express will lead to more accurate diagnoses and avoid inefficient or even damaging medication."

Dr. Barak Rotblat, a member of the EGM Center, focuses on how genes affect cancer cells. He explains the potential for personalized medicine treating cancer patients. You can take a biopsy, see the specific tumor, know which genes are highly expressed, and which promote the cancers growth. You then create a cocktail to hit the tumor cells of the individual patient.

Meanwhile, Dr. Debbie Toiber, also of the EGM Center and Department of Life Sciences, is taking the RNA research in another direction. Her focus is on how mapping DNA can improve health and potentially increase lifespans.

DNA damage is one of the major causes of aging and age-related diseases, she explains. Most of the damage is repaired, but not everything. So as we age the DNA damage accumulates. With the accumulated damage, cells and neurons die, and organs become debilitated, causing the body to be more susceptible to disease and aging disorders.

Damage to the body is inevitable on some level by simply living, with the environment causing additional damage. While lifestyle plays a major role in the bodys ability to repair DNA damage on its own, genetic makeup contributes as well.

For example, if someone has an inherited gene mutation, it could limit his or her bodys ability to repair itself, leaving the individual prone to immune system damage, cancer, neurodegeneration, and premature aging. By looking into a persons genetic makeup, researchers are opening the door to personalized medicine, designed to uniquely address an individuals needs.

As Israeli researchers move forward with their studies, we come closer to gaining a deeper understanding of the human genome and providing the right personalized treatment for a myriad of medical conditions, from birth to old age and everything in between.

Making lives better in the Negev, in Israel and around the world, Ben-Gurion University of the Negev inter-disciplinary research and applied science teams are shaping the world of tomorrow with groundbreaking innovation. Sign up for eIMPACT newsletter to learn about the latest innovations as they happen.

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Ben-Gurion University scholars uncover the secret to personalized medicine - The Jerusalem Post

BUFFALO, N.Y. Personalized medicine, tracking of deadlyepidemics and new insights into drug side effects are just a few ofthe ways that biomedical informatics is helping enhance medicalresearch and clinical care. Big data science holds the promise ofrevolutionizing how health care data are used to provide bettercare for patients.

But as more and more health care data become available, theability to efficiently analyze and utilize these data is growingincreasingly problematic. At the same time, there arentenough people trained in the field of biomedical informatics.

Now, a new five-year $2.5 million grant to the Department ofBiomedical Informatics in the Jacobs School of Medicine andBiomedical Sciences at the University at Buffalo will train a newcadre of research leaders skilled in analyzing and interpretingthese data.

The funding, known as T15, from the National Library of Medicineof the National Institutes of Health, supports doctoral andpostdoctoral level training for research careers in biomedicalinformatics and data science. The training programs are designed tomeet the growing need for investigators trained in biomedicalcomputing, data science and related fields with applications inhealth care clinical informatics, translational bioinformatics andclinical research informatics.

Over the five years of the grant, the department will be able totrain as many as 15 doctoral and postdoctoral researchers inbiomedical informatics.

UBs program will focus on three major areas:

clinical informatics, including socio-technical and human-centereddesign, workflow analysis and cybersecurity.

translational bioinformatics, including database management,pharmacogenomics and predictive modeling.

clinical research informatics, including a big data sciencetraining program, statistical machine learning and data mining.

The NLM grant puts the department at the forefront ofthis rapidly changing field, said Peter Elkin, MD, professorand chair of the Department of Biomedical Informatics, and directorof the new training program. Elkin also is director of theinformatics core of UBs Clinical and Translational ScienceInstitute.

Biomedical informatics is the field that will provide theinfrastructure necessary to allow scientists to performtranslational and clinical genomic research moreefficiently, he explained. The National Library ofMedicine funding, together with our established fellowship programin clinical informatics, will allow our department to play a keyrole in developing tomorrows research leaders in biomedicalinformatics.

He added that trainees in the new program will benefit fromUBs existing Big Data-Scientist Training EnhancementProgram, funded by the U.S. Department of Veterans Affairs incollaboration with the National Cancer Institute of the NIH. The UBprogram was one of just six sites funded nationally in 2015.

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Biomedical informatics gets a boost with $2.5 million grant - UB News Center

Every human on earth is unique our genes are different, we eat different things, we live in different places. As a result, medical treatments tend to work differently on different people. Depending on your genes, a drug might cure your sickness or it might cause a side effect that makes you sicker.

In the past, many of humanitys individual variations were invisible to us, but today, new technology offers us a way to peer into each persons genome, allowing doctors to personalize treatments for each patient. This approach, called precision medicine, has been a major focus of research and investment in the last few years.

But precision medicine only works if scientists have studied people who are similar to you. If your genes are rare or unusual compared to those researchers have examined in the past, you could end up getting the wrong treatment. Since the vast majority of genetics studies are done on people of European ancestry, members of other racial groups may lose out on the benefits of precision medicine entirely. Those same groups already often receive worse health care in the United States than people of European descent get, and personalized medical treatment could make the gap in care larger.

Precision medicine is based on the idea that genes can be linked to diseases. To study this, scientists assemble a group of people, some with a disease and some without, and identify their genetic differences. If particular differences are common among the people who have the disease and absent from the people without it, then scientists can infer that those genetic patterns might be involved in the disease.

But each person has their own catalogue of genetic characteristics. Some are common in people of certain ancestral backgrounds and rare in those from other backgrounds. If scientists exclusively study individuals of one ethnic group, they may not know how to refine their treatments for a person from a different group.

A 2009 analysis of the studies that can link a genetic variant to a disease or trait showed that fully 96 percent of participants were of European descent. In a 2016 commentary in the journal Nature, Alice Popejoy and Stephanie Fullerton, respectively a graduate student and a professor at the University of Washington, showed that these studies had grown more diverse and people of European ancestry now account for 81 percent of research subjects. Things are getting better, and its still pretty darn slow, Fullerton said in an interview. And of the progress that has been made, much of it is attributable not to an increase in diversity in U.S. research but to studies conducted in Asian countries, which involve local participants.

Disparities in biomedical research exacerbate an existing gap in U.S. health care. African-Americans and Latinos are less likely to have health insurance and more likely to suffer from chronic diseases. Even controlling for wealth differences between populations, African-Americans receive worse health care.

The science underlying precision medicine threatens to make these disparities worse because it could leave any genetic differences that primarily affect nonwhite groups unstudied. Some genetic differences are prevalent in one population and rare in another. A prominent example is a gene called APOL1. Differences in this gene are common in people whose ancestors are from sub-Saharan Africa but rare in those of other backgrounds. Some of these variations increase the risk of developing kidney disease more than sevenfold, but they also seem to confer protection against African sleeping sickness. Knowing a patients APOL1 genetic makeup might be useful for guiding kidney disease treatment, and APOL1 is likely one of many genes that must be studied within a nonwhite population.

Its possible to solve the problem of underrepresentation. The National Institutes of Health fund a number of large-scale genetic research projects in the United States, and scientists there consider this a major issue. We are aware of this situation, and work is being funded to rectify the situation, said Charles Rotimi, an investigator at NIH. He pointed to initiatives like Human Heredity and Health in Africa and the Population Architecture using Genomics and Epidemiology Consortium. These projects are developing more diverse study populations to address the underrepresentation of people of non-European ancestries, in some cases going to African countries to collect genetic data. In the United States, individual investigators can also apply for smaller-scale NIH grants to study particular diseases.

Even when scientists make a conscious effort to recruit a diverse study population, they can run into hurdles. For very good reason, minority populations can be more skeptical and concerned about being involved in biomedical research, said professor Danielle Dick of Virginia Commonwealth University, who studies how genetics contribute to a persons risk of substance abuse. The good reason Dick referred to is a long history of biomedical researchers mistreating people of color, including in the Tuskegee trials and through the forced sterilization of Puerto Ricans. Dicks team and others have tried to address issues of underrepresentation by visiting various hospitals to recruit Hispanic or African-American study participants, providing educational materials about genetics research, arranging to collect samples when patients may be off work, and taking other measures to encourage participation.

But the imbalance in samples is so severe, and the rush to develop precision medicine is so swift, that the problem may not be solved before treatments are developed, and as a result, those treatments will likely predominantly help people of European ancestry. The time horizon for a lot of therapies is typically in the 10- to 15-year range, Fullerton said. Could we solve it in that time frame? Possibly. But genetic differences may already be causing disparities in treatment results between groups. Some genetic variants that are common to certain racial or ethnic groups can affect a patients tolerance for drugs, for example, so knowing about a patients genetic code can guide a physicians prescription. Doctors are observing these phenomena in the clinic already, said Nishadi Rajapakse, an NIH administrator at the National Institute on Minority Health and Health Disparities.

Clinical differences in health care are only likely to become more severe as precision medicine advances. New drugs are already targeting certain genetic differences, although none that would function primarily in one ethnic group and not in others. In the long run, people of European ancestry could benefit from ever more specialized treatments while people of color are left behind.

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Medicine Is Getting More Precise For White People - FiveThirtyEight

Celgene Corp.'s (NASDAQ:CELG) second-quarter revenue and sales came in nearly 50% higher than they were two short years ago, yet the company doesn't appear to be anywhere near peaking. A flurry of R&D activity should provide it with a steady stream of label expansion and new drug opportunities, and if so, management should have no trouble delivering on its goal of growing sales to $21 billion in 2020 from an estimated $13 billion this year.

Celgene's widely used first-line multiple myeloma drug Revlimid has been a big reason the company's delivering significant top- and bottom-line growth. Originally approved for use in the second-line setting, the FDA approved it as a first-line drug in February 2015, and in February 2017, it also approved its use as maintenance therapy in multiple myeloma patients following stem-cell transplants to help prevent the cancer from progressing.

IMAGE SOURCE: GETTY IMAGES.

The company's success in expanding Revlimid's addressable market has caused Revlimid's sales to spike. In Q2, Revlimid revenue was $2.03 billion, up 19.6% year over year, and that has Celgene estimating $8 billion in revenue from the drug this year.

The strategy of expanding the use of its drugs to more patients, however, isn't limited to Revlimid. Management hopes to boost sales of its other drugs this way, too. For instance, studies are evaluating its third-line multiple myeloma drug, Pomalyst, as a second-line treatment. They're also exploring the use of its psoriasis drug Otezla in ulcerative colitis patients. And the company's pancreatic cancer drug, Abraxane, could someday be used to help treat patients with non-small-cell lung cancer and triple-negative breast cancer.

Given the company's track record with Revlimid, I think there's a good shot these trials pan out, and if so, then revenue and profit will march steadily higher.

Management may dominate multiple myeloma treatment, but it's not sitting on its laurels. Thanks to a slate of collaborations with emerging biotech companies, it has plenty of irons in the fire that could result in new drugs targeting a variety of cancer indications.

This week, the company's collaboration strategy took a big step forward when the FDA approved Idhifa, the first drug specifically OK'd to treat relapsed or refractory acute myeloid leukemia (AML) patients possessing a specific genetic mutation. Celgene co-developed Idhifa with Agios (NASDAQ:AGIO), and it won FDA approval only four short years after entering clinical trials.

Idhifa isn't likely to become a huge source of profits for Celgene because Celgene will share its success with Agios, but it could still rack up $100 million to $200 million in annual sales, or more, if it's eventually approved for first-line use. The two companies estimate that Idhifa's current addressable market is between 1,200 to 1,500 patients, and they've priced the drug at nearly $25,000 per month.

The company's also making headway on its other collaborations. Celgeneand partner Acceleron Pharma have completed of enrollment in phase 3 trials evaluating luspatercept in patients with lower-risk myelodysplastic syndromes and transfusion dependent beta-thalassemia. Results from those studies are anticipated in the middle of 2018.

Further back in the pipeline are intriguing chimeric antigen receptor T-cell drugs, too. Celgene's working with Juno Therapeutics on JCAR017, a non-Hodgkin lymphoma drug in early stage studies, and bluebird bio on bb2121, a multiple myeloma drug that's in phase 1 trials.

IMAGE SOURCE: GETTY IMAGES.

When Celgene launched psoriasis drug Otezla, it marked its first foray into treating autoimmune disorders. Now, Celgene's close to the finish line on yet another autoimmune-disease drug. It's targeting relapsing multiple sclerosis this time around, though.

Celgene spent over $7 billion buying Receptos to get its hands on the clinical-stage MS drug ozanimod, and based on ozanimod's success in phase 3 studies, that looks to have been money well spent.

The global MS market is worth over $22 billion, and about 40% of the market value belongs to oral MS drugs, including Gilenya, which generates sales of over $3 billion annually. Like Gilenya, ozanimod controls MS by inhibiting S1P to limit immune system responses. However, unlike Gilenya, ozanimod is more selective, and its selectivity may make it safer. During trials, ozanimod outperformed the MS drug Avonex without showing signs of the cardiovascular safety risks associated with Gilenya. If all goes well at the FDA, ozanimod could put a big dent in Gilenya's market share. It could also chip away at Tecfidera, another oral MS drug with nearly $4 billion in annual sales, depending on its label.

Celgene's also conducting a phase 3 trial of ozanimod in ulcerative colitis, and it expects enrollment in that trial to be complete this year. It's also got a phase 3 study of another drug, GED-0301, for use in Crohn's disease. Management expects enrollment in that trial to wrap up soon, too. Since these are blockbuster indications, a positive outcome in one or both of them could eventually be needle-moving.

In 2020, Celgene's wants to deliver $21 billion in sales and over $13 per share in earnings. Those figures represent a huge jump from the $13 billion and $7.25 in EPS that's forecast for 2017. Yet there's reason to think Celgene can meet or exceed those targets.Management based its long-term forecast on the drugs it currently has on the market, so if collaborations and R&D efforts yield new commercial-stage medicines, then Celgene should be able to deliver on its goal. In this respect, the company's best days may truly be yet to come.

Originally posted here:
3 Reasons the Best Is Yet to Come for Celgene - Motley Fool

August 4, 2017 - By Marguerite Chambers

Neuralstem Inc (NASDAQ:CUR) institutional sentiment decreased to 0.3 in Q4 2016. Its down -0.37, from 0.67 in 2016Q3. The ratio worsened, as 8 institutional investors increased or opened new positions, while 27 sold and decreased their stakes in Neuralstem Inc. The institutional investors in our partners database now own: 6.88 million shares, down from 12.30 million shares in 2016Q3. Also, the number of institutional investors holding Neuralstem Inc in their top 10 positions decreased from 1 to 0 for a decrease of 1. Sold All: 16 Reduced: 11 Increased: 6 New Position: 2.

Neuralstem, Inc. is a clinical-stage biopharmaceutical company. The company has market cap of $18.31 million. The Firm is engaged in research, development and commercialization of central nervous system therapies based on its human neuronal stem cells and its stem-cell derived small molecule compounds. It currently has negative earnings. The Firm has approximately three assets: its NSI-189 small molecule program, its NSI-566 stem cell therapy program and its chemical entity screening platform.

About 412,558 shares traded or 2.10% up from the average. Neuralstem, Inc. (NASDAQ:CUR) has risen 3.35% since August 4, 2016 and is uptrending. It has underperformed by 13.35% the S&P500.

National Asset Management Inc. holds 0.01% of its portfolio in Neuralstem, Inc. for 167,500 shares. Bank Of America Corp De owns 8,400 shares or 0% of their US portfolio. Moreover, Bank Of New York Mellon Corp has 0% invested in the company for 91,969 shares. The Delaware-based Blackrock Advisors Llc has invested 0% in the stock. Blackrock Fund Advisors, a California-based fund reported 24,841 shares.#img1#

Since January 1, 0001, it had 3 insider buys, and 0 selling transactions for $70,004 activity.

More important recent Neuralstem, Inc. (NASDAQ:CUR) news were published by: Globenewswire.com which released: Neuralstem Awarded $~1MM Grant by NIH to Continue Preclinical Research into on August 02, 2017, also Marketwatch.com published article titled: UPDATE: Neuralstem stock plummets 61% on news of mid-stage clinical trial miss, Seekingalpha.com published: Neuralstem Is Doomed on August 03, 2017. More interesting news about Neuralstem, Inc. (NASDAQ:CUR) was released by: Benzinga.com and their article: Mid-Day Market Update: ShoreTel Gains On Acquisition News; Neuralstem Shares with publication date: July 27, 2017.

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Institutional Investors Lead Shift in Neuralstem Inc (NASDAQ:CUR) Sentiment - BZ Weekly

CHICAGO (CBS) While the sun may be difficult to spot on Friday, an eye expert warns of the danger of staring at it for too long during the eclipse later this month.

Dr. Kirk Packo, chair of the ophthalmology department at Rush University Medical Center, said 22 years after the instrument for inspecting the eye was invented doctors saw the after affects of looking at a solar eclipse.

The first big description of sun damage to the eye occurred following a total solar eclipse that went through Europe in 1912, he said.

For those watching the eclipse without lenses rated to block the full spectrum of light, he said substituting multiple pairs of sunglasses wont protect you. In fact, he said, they could lead to more damage because things will look darker so you may stare longer, but the invisible thermal-damaging light is still coming through.

Then you are looking at it, you are not getting the painful stimulus, because you have darkened the visible light, and yet all that time, you are letting the invisible, dangerous thermal damaging light still through, he said.

Dr. Packo said rentinal burns from the sun can cause lifelong dead spots in the center of your vision and can reduce your vision permanently; but are not likely to make you completely blind.

When the medical facility where Dr. Packo worked in Atlanta in May 1984 offered free eye exams after an annular eclipse (not total solar edge still visible), he said none of the roughly 100 people who came in suffered any damage.

He attributes the lack of problems to how well publicized the warnings were.

If you are going to watch the eclipse, you should get eclipse glasses properly rated to block the visible spectrum, said Dr. Packo. But even then, he said, you are not immune from any retinal damage.

Adler Planetarium display of giant solar eclipse glasses with information on protecting your eyes during the solar eclipse. (WBBM/Nancy Harty)

Dont look through a camera, telephoto lense, telescope or binoculars while wearing solar eclipse glasses, he said.

That magnification can lead to damage.

If you cannot get eclipse glasses, he suggests making a pinhole camera to project the suns image on a piece of paper to safely watch.

When asked whats a safe amount of time to stare at the eclipse Dr. Packo hesitated, saying it depends on how much cataract you have or refractive error is.

He said the problem is an eclipse is mesmerizing and you will want to look longer than a couple of seconds, as the doctor recommends.

Link:
Opthalmology Doctor Warns Of The Dangers Of Starring At The Solar Eclipse - CBS Chicago