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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- 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
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in … the changes in molecular function that underlie various genetic metabolic disorders, with the hope of developing … She played a major role in identifying six distinct genetic subgroups of HPS patients by cataloging relevant …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… engaged in a global research endeavor to understand the genetic basis of disease in all populations. But this can … most studies of the human genome have focused on European ancestry populations. By not exploring genetic variation within African populations, opportunities …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… on translational research determining the effect of genetic variation on gene function and identifying primary … process for FDA approval. In the context of complex genetic disease, Dr. Erdos is using multi-omics analyses to … Type 2 Diabetes (AMP-T2D) consortium. … The application of genetic, genomic and functional biology approaches are …
About NHGRI
The National Advisory Council for Human Genome Research provides expert advice on genetics, genomics research, training and programs to NHGRI and the NIH.
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… used molecular and biochemical techniques to understand genetic diseases of the teeth, the oral cavity and the … uses molecular and biochemical techniques to understand genetic diseases of the teeth, oral cavity and kidney. Gum … can occur as an isolated inherited condition, as part of a genetic syndrome, or as a side effect of certain medications. …
Research at NHGRI
An international investigation into the genetics of severe acute malnutrition in children.
… skew heavily to represent individuals of European ancestry ( GWAS Diversity Monitor 2023 ). This lack of diversity fails to capture novel genetic variants and unique patterns of admixture in African … and other diverse ancestry populations who harbor the most genetic diversity. This can potentially lead to ambiguous …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… of string, your DNA forms many of these loops to create "genetic neighborhoods" within each bunny ear loop. These … and specific gene control switches into close proximity. Genetic neighborhoods can be autonomous and remain separate … study in Nature that describes what happens when two genetic neighborhoods merge in brain tumor cells. Researchers …
Event
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… … Panelists … Contacts … Virtual … Webinar: Ancient Genetic Clues into Modern Human Disease … Enter text here …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Genome sequencing reveals genetic basis for disabling pansclerotic morphea, a severe … to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. “Researchers … NHGRI and NIH … NIH scientists find treatment for rare genetic skin disorder … Researchers at the National …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… How to solve this dilemma? Evaluating all potential genetic features of inherited diseases by sequencing the genetic code is a powerful solution to confront the … patient's information upfront in an effort to decide which genetic test or panel to order. "Having a patient's genome …