This invention relates to nucleic acid, or fragments thereof, encoding the retinoblastoma polypeptide, the retinoblastoma polypeptide itself, methods of detecting a defective retinoblastoma gene in human patients, and methods of treating these patients.
Thaddeus P. Dryja - Milton MA, US Stephen Friend - Somerville MA, US David W. Yandell - Waltham MA, US
Assignee:
Massachusetts Eye and Ear Infirmary - Boston MA Whitehead Institute - Cambridge MA
International Classification:
A61K 39/29
US Classification:
435 6, 435 71, 435 691, 4353201, 536 234, 536 243
Abstract:
This invention relates to nucleic acid, or fragments thereof, encoding the retinoblastoma polypeptide, the retinoblastoma polypeptide itself, methods of detecting a defective retinoblastoma gene in human patients, and methods of treating these patients.
Thaddeus P. Dryja - Milton MA Stephen Friend - Somerville MA David W. Yandell - Waltham MA
Assignee:
Massachusetts Eye and Ear Infirmary - Boston MA Whitehead Institute - Cambridge MA
International Classification:
C07H 2102 C07H 2104 C12Q 168
US Classification:
536 231
Abstract:
This invention relates to nucleic acid, or fragments thereof, encoding the retinoblastoma polypeptide, the retinoblastoma polypeptide itself, methods of detecting a defective retinoblastoma gene in human patients, and methods of treating these patients.
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cystic fibrosis and those that cause severe skeletal malformations. The authors, led by Stephen Friend of the Icahn School of Medicine at Mount Sinai in New York, hypothesize that these 13 apparently normal adults have other genetic elements that compensate or buffer the effects of those mutations.
Date: Apr 12, 2016
Category: Health
Source: Google
'Genetic superheroes' are real and could lead to life-saving treatments – but nobody can talk to them
"There's an important lesson here for genome scientists around the world: the value of any project becomes exponentially greater when informed consent policies allow other scientists to reach out to the original study participants, said Stephen Friend, the other Resilience Project co-founder.
Dr. Stephen Friend, president of Seattles Sage Bionetworks, and his colleagues at the Icahn School of Medicine at Mount Sinai in New York, sifted through a massive data set pooled from a dozen previous genetic studies.
Date: Apr 12, 2016
Category: Health
Source: Google
Detailed Study Should Be Conducted On Those Who Escaped Genetic Disorders
According to a senior researcher Dr. Stephen Friend, if we find out as to how some children manage to escape their genetic composition, it would be instrumental in developing solutions for certain most horrible birth defects known to human race.
Date: Apr 12, 2016
Category: Health
Source: Google
'Buffer genes' may protect these 13 people from rare genetic diseases
The study is a first step in the Resilience Project, an effort led by Stephen Friend of Sage Bionetworks in Seattle, Washington, and Eric Schadt of the Icahn School of Medicine at Mount Sinai in New York City. They want to find healthy individuals who have genetic mutations that usually cause seriou
Date: Apr 11, 2016
Category: Health
Source: Google
13 amazing people somehow skirted genetic disaster
You can imagine the level of frustration, said the studys lead researcher, Stephen Friend, the president of the nonprofit Sage Bionetworks and a genomics professor at the Icahn School of Medicine at Mount Sinai in New York. It is almost as if you got to take the wrapping off the box but you coul
"If you want to develop therapies for prevention, if you want to come up with ways of not just finding the cause, but [also] ways of preventing the manifestations of disease," then these individuals may help find a way, Stephen Friend, a co-author of the study and a researcher at Sage Bionetworks in
Date: Apr 11, 2016
Category: Health
Source: Google
Why Do Some Kids Escape Terrible Genetic Disorders?
Figuring out how certain people are able to dodge their genetics could provide solutions to some of mankind's worst birth defects, said senior researcher Dr. Stephen Friend. He is the president of Sage Bionetworks, a nonprofit biomedical research organization in Seattle.
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