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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Event
This symposium highlights other collaborative efforts between NIH and Children's National, and address genomics and care of children with immunologic diseases.
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's … Ellen Sidransky never thought she would study Parkinson's disease because it is not a disease a pediatrician … Gaucher gene is now known to be the most common genetic risk factor for Parkinson's disease. "It exonerated why you …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… (TRAPS) and neonatal-onset multisystem inflammatory disease (NOMID). Patients with TRAPS suffer from recurrent …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. … Cyndi Tifft opened a bag and … of work and a new life for someone with a devastating disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a critical …
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.
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… lead to clinical trials and decrease the burden of disease of our patients. … Soo: What are some difficulties in … When the first patient came to our clinic, we found their disease-causing genomic variant and looked for other patients … face. We have a mouse model that recapitulates the human disease, and we are in the process of running a clinical …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network. The funds, awarded to … clinical data that are currently not consistently used for disease-risk assessment (particularly when focused on … , once available. …  Recently, the International Common Disease Alliance (ICDA) released their recommendations and …
Strategic Plan
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… genomics research and its application to human health and disease at the dawn of the new decade. Broad input from … and enable novel applications to human health and disease. In developing the strategic plan, we aim to be the … areas are: (1) the genomic basis of rare and common disease (and their clinical management), and (2) …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… politicians, ambassadors, scientists, company executives, disease advocates, and journalists gathered to celebrate a … of human biology and new insights about human health and disease.  On that day 20 years ago, Francis Collins, now the … joins fight against COVID-19 Genes, blood type tied to risk of severe COVID-19 NIH halts clinical trial of …
Fact Sheet
Participation in genomics research is essential for improving the health of everyone.
… these variations can influence our chances of developing a disease. So far, most people who have given permission for … all populations.  … Every human has some baseline genetic risk of developing a given disease. Extensive research has … protocols and methodologies for improved genomic risk assessments for all populations and to integrate their use in …