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Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… at the NIH's Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl's … 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, …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… For patients to have full access to the benefits of genetic testing, payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement. … of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… Human Genome Research Institute's Genome Sequencing Program Coordinating Center (GSPCC) was funded in 2016 to coordinate activities across the Genome Sequencing Program components. … Being a resource for logistics and communication among GSP program participants and collaborators (calls, meetings, …
Funding for Research Training
A program designed to recruit and retain highly qualified health professionals into biomedical or biobehavioral research careers.
… Applications for NIH’s Loan Repayment Program (LRP) will be open from Sept. 1 to Nov. 21, 2024 . … tailor their LRPs. NHGRI has the Extramural Loan Repayment Program for Research on Emerging Areas Critical to Human Health (LRP-REACH), which is open to genetic counselors working in genomic research. This is …
Educational Resources
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that makes it unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment.
… Genetic Information Nondiscrimination Act (GINA) … The Genetic Information Nondiscrimination Act (GINA) is federal … to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment. … Genetic Information Nondiscrimination Act, GINA, Federal …
Research Funding
The Genome Technology Program is refining current technologies to increase efficiency and decrease cost while maintaining or improving data quality.
… The Genome Technology (GTP) program at NHGRI supports research to innovate and develop … in genomic technologies are foundational efforts of the program. The refinement of current technologies to increase … of process steps is key to achieving these goals. The program also supports and coordinates technology transfer …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was … accurate information - in both English and Spanish - about genetic and rare diseases. So far, GARD has responded to over …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… a global understanding of the relationship between human genetic variation and population differences in disease distribution, … health disparities. Its investigators will develop genetic epidemiology models that will explore the patterns … CRGGH aims to develop a comprehensive staff and training program that uses genomic approaches to study human health …
For Teachers
The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome.
… The genetic timeline lesson plan gives students an historical … The genetic timeline activity may be most effectively done at the … take two periods. Preparation Print out two copies of the  Genetic Timeline  boxes of discoveries. Use one as the master … Genetic Timeline Lesson Plan …
Talking Glossary
Understand the terms and concepts used in genetic research
… Genetic Ancestry … Genetic ancestry refers to information about the people that … individual is biologically descended from, including their genetic relationships. … Genetic ancestry refers to information about the people that … individual is biologically descended from, including their genetic relationships. Genetic information can be combined …