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FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… Effectiveness Models of PRS that use them in isolation, not considering the scores in the context of non-genetic risk factors as a part of genetically informed risk assessment, may not reflect the …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… The Cancer Genome Atlas (TCGA) Network have made a number of new findings about the biology and development of a rare form of kidney cancer. … … families, through research into prevention and cancer biology, the development of new interventions, and the …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… known as von Recklinghausen's NF, is the more common of the types. It occurs in approximately 1 in 4,000 births. … occurs less frequently- 1 in 40,000 births. Occurrences of NF1 and NF2 are present among all racial groups and affect … brain tumors. Ringing noises inside the ear (tinnitus), hearing loss and/or deafness. Cataracts at a young age. …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… (NHGRI), and the National Cancer Institute, both part of the National Institutes of Health, in addition to other organizations. Investigators … families, through research into prevention and cancer biology, the development of new interventions, and the …
News Release
Four NHGRI researchers share the steps toward a career in genomics with 60 Brooklyn-area high school students.
… John Daniels … Keisha Findley's high school biology teacher made science fun and interesting, inspiring her to pursue a career in science. Instead of becoming a physician as she'd planned, Dr. Findley is a … Bishop , laboratory technician, Genetics and Molecular Biology Branch, NHGRI, who works on various research projects …
Policy Issues
The 9 steps a bill can go through before becoming a law, using the Genetic Information Non-Discrimination Act of 2003 as an example.
… a bill can go through before becoming a law. The history of the Genetic Information Nondiscrimination Act  (GINA), a law that was passed in 2008 and impacts the field of genomics, provides an excellent example of the legislative process in action. … Step 1: The bill is …
Fact Sheet
A fact sheet detailing how the project began and how it shaped the future of research and technology.
… by the Human Genome Project was actually a patchwork of multiple people whose identities were intentionally made … to protect their privacy.  However, the majority of the sequence came from one person of blended ancestry. … from across the world, involving experts in engineering, biology, and computer science, among other areas. It also …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… National Cancer Institute (NCI) at the National Institutes of Health (NIH) and the Department of Health, Behavior and Society at the Johns Hopkins University (JHU) Bloomberg School of Public Health have collaborated to develop and support the …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… NHGRI will reach another of its many celebrated ‘odometer moments’ this month! The 100th meeting of the National Advisory Council for Human Genome Research … 2023. Three times a year, NHGRI convenes NACHGR, a group of leading genomics experts who advise the institute about …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… Environmental Factors and the Social Determinants of Cardiovascular Disease in Africans Americans Study … science resource for defining the biological significance of ancestry-related genomic variation in African-Americans. … … effect of the DNA variant of interest on human systems biology. In some cases family members of the proband may also …