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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … About Sickle Cell Disease   Centers for Disease Control and Prevention Sickle Cell Disease   American Society of …  American Society of Hematology (ASH)  … Gene Therapy and Sickle Cell Disease (video)  American Society of Gene & …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this finding … Ph.D., a genetic counselor at the National Human Genome Research Institute’s (NHGRI) Reverse Phenotyping Core …
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.
… is likely the case for many of your organizations, NHGRI and NIH are starting to bring some of our staff back to the … announce the completion of a draft sequence of the human genome. The ceremony took place in the East Room of the White … politicians, ambassadors, scientists, company executives, disease advocates, and journalists gathered to celebrate a …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Last month, Dr. Sara Hull (NHGRI Bioethics Core Director) and I answered questions about bioethics and genomics … up to the 30th anniversary of the launch of the Human Genome Project in October 2020. Check out the latest oral … two decades, researchers have cataloged numerous genomic variants that may play a role in human disease. However, …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the … into EMRs The grants, administered by the National Human Genome Research Institute (NHGRI), represent the third phase … identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… In a new study, researchers at the National Human Genome Research Institute (NHGRI) have generated the largest catalog of genetic variants associated with physical traits for domesticated dog … if variants associated with dog body structure, behavior and life span could also be implicated in related human …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other … from person to person. … Researchers at the National Human Genome Research Institute (NHGRI) are seeking help from …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… support research to identify differences - called genetic variants - in the less-studied regions of the genome that are responsible for regulating gene activity. A … the specific variants that play a role in the disease and to define what that role is. The new awards, funded by …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( lovotibeglogene autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … in different tissues, leading to hematological, skeletal, and neurological manifestations seen in patients with Gaucher … coding for the enzyme glucocerebrosidase is called GBA1 and is located in chromosome 1. While there is only one gene …