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- Developmental Genotype-Tissue Expression (dGTEx)1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across all treatments. This is a … to have: Certain screenings (e.g., MRI, blood tests). A genetic test to determine if there are changes that would …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder … materials reflect the priorities and perspectives of both individuals living with sickle cell disease and the … your healthcare provider or a clinical trial team. …  … Genetic carriers for sickle cell disease have higher risks of …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… to develop a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a … our common goals of understanding and treating common diseases. …  Launched in 2012, the NHGRI History of … improved gene therapy in sickle cell disease Finding new genetic mutations amid healthy cells ‘Sticky’ gene may help …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… to evaluate medical questions. … National Institutes of Health (NIH) researchers discover that while artificial … make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… to the genomics revolution. Kary Mullis, inventor of the polymerase chain reaction (PCR) and Nobel Prize … an informed public. Establishing how best to advance genetic and genomic literacy is a major challenge. No one … and efficacy; the use of genomic medicine for undiagnosed diseases; using family health history to assess risk; and …
Policy Issues
The GINA is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… The Genetic Information Nondiscrimination Act, commonly known … protects individuals from discrimination based on their genetic information. It was first introduced into the U.S. …  1995 Rep. Louise Slaughter introduces the first version of the bill in the U.S. House of Representatives. More + 1995 …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… a healthy brain. … Researchers at the National Institutes of Health have discovered a new neurological condition … Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … came from a 2015 study in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an …
Event
The NHGRI Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network that will explore the changing landscape of genetics from a largely descriptive field and emerging creative fields.
… contact Beth Tuck at elizabeth.tuck@nih.gov . … Contact … The NHGRI Education and Community Involvement Branch is … Reimagined: Preparing Students to Explore the Forefront of Research and Design." This live, highly participatory … can your students expect to see as genetics and genetic engineering grow into a new variety of research and …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… with international researchers, and the importance of determination in science. … If you ask Neil Hanchard, … to study the genomics and environmental contributors of diseases in African populations. Diversifying genomics … and different forms of malnutrition, teasing apart the genetic contributions of these conditions. He also has …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… M.D., Ph.D, announced expansive new efforts for all of NIH to support equity, diversity, and inclusion in … in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … experiences in clinical and molecular genetics, metabolic diseases, and bioinformatic applications. The program …