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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 …