Search Results
Staff
Cristina Kapustij was the chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute until June 2024.
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… Cristina Kapustij, M.S., is chief of the Policy and Program Analysis Branch at the National Human Genome … experiences have prepared her to lead the policy branch at NHGRI. Prior to her role at NHGRI, she worked at the Institute for Human Genetics at the University of California, San Francisco. …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… led by the University of Oxford, the Broad Institute, and the University of Michigan, reveal the complexity of the … to develop it in their lifetime. Previous studies into the genetics of diabetes risk have identified over 80 areas in … Section at the National Human Genome Research Institute. NHGRI is one of the 27 institutes and centers at the NIH, an …
Policy Issues
In June 2013, the Supreme Court determined that DNA in its natural form cannot be patented.
… to the Code, a patent may only be granted on "any new and useful process, machine, manufacture, or composition of … in 2003 all of the human gene sequences were in the public domain and, therefore, prior art. Finally, many argued … music. In April 2010 the Secretary's Advisory Committee on Genetics, Health and Society published a report, Gene …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… The Medical Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators focus on human genetics, vertebrate embryology, inborn errors of metabolism, … capitalize on partnerships with key laboratories at NHGRI, NIH, and worldwide. The Branch attracts patients with …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute. … The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has … many aspects of organic acidemias. After his early genetics training at Baylor College of Medicine, Dr. …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse …
Staff
Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research Institute (NHGRI)
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… Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research Institute (NHGRI). She spearheads NHGRI’s scientific data sharing policy … from Rutgers University in 2015 with a bachelor’s in Genetics and minors in Philosophy and Psychology. From there, …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … their findings may provide new clues to underlying genetic and biochemical influences in the development of stroke and cardiovascular disease, and may also help lead to new …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach … the child becomes blind, cognitively impaired, paralyzed and non-responsive. By the time a child with Tay-Sachs is …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and social-behavioral research can provide insights and discoveries that could not be otherwise obtained using … NIH must comply with regulations that protect the rights and welfare of the participants, and require that researchers …