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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
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… find a mutation in the genomic sequence of a person with a genetic disease, they sequenced the genomes of healthy … presumed, mutations that would almost certainly lead to a genetic condition. … Out of almost 1,000 volunteers whose … that 34 had the specific condition linked to their genetic mutation. These findings indicate that 3 percent or …
Event
Future Webinar Series
… about how to identify and interpret the interplay of genetic and non-genetic factors in trait variation. Following on the heels of NHGRI’s workshop “Advances in the Genetic Architecture of Complex Human Traits” is a seminar …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… high-risk strategies that utilize a wide range of genomic, genetic, computational, and high-throughput methodologies. … Program has become a model for successfully translating genetic and genomic discoveries into the clinical care arena. … fundamental tenets. For example, a full understanding of genetic and genomic variation extends from the principles of …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… that these cells are prone to increased numbers of genetic mutations. A new study by scientists at the National … were reprogrammed and in cells that were subcloned. M ost genetic variants detected in the iPSCs and subclones were rare genetic variants inherited from the parent skin cells. This …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in … bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, … in the section has been to discover the causes of genetic diseases. Over the years, section members have …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
… 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 …
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 …
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 … focused on European ancestry populations. By not exploring genetic variation within African populations, opportunities … supports African scientists conducting research on the genetic and environmental factors of disease. Five years …
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.
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… Hopkins and institutions that took care of people with genetic conditions. I thought to myself, “This is what I want … allow us to include environmental risk factors in our genetic analyses. Since then, we've identified several … to these diseases. She and her team harnessed the power of statistics and computational techniques to show that genetics …