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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… Genetics … Genetics is the branch of biology concerned with the study of … and their interactions with environmental factors. … Genetics is the branch of biology concerned with the study of … and their interactions with environmental factors. … Genetics is the branch of biology concerned with the study of …
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.
… to develop it in their lifetime. Previous studies into the genetics of diabetes risk have identified over 80 areas in … National Institutes of Health and head of the Molecular Genetics Section at the National Human Genome Research … unique to individuals. This resolves a question about the genetics of type 2 diabetes that has puzzled researchers for …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
… (ASHG) and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship. Every year, one genetics professional will receive comprehensive training and experience to help prepare him or her for a career in genetics and genomics education. The 16-month program is …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… classic PKU include seizures, developmental delay, and autism. Boys and girls who have classic PKU may also have … PKU, Moderate PKU, Mild PKU, Seizures, Develpmental Delay, Autism, Eczema, Hyperphenylalaninemia … Phenylketonuria is an …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… Many Americans wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against based on their genetics. These questions may be the basis for why or why not patients decide to take genetics-based clinical tests or volunteer to participate in …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… about key fellowship dates. … Rapid advances in human genetics/genomics research and genomic medicine are … and public engagement. ASHG and NHGRI co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals who wish to transition to careers in …
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
… guiding research agendas to informing the integration of genetics and genomics in clinical settings, sound … informed with participation from people with expertise in genetics and genomics. ASHG and NHGRI co-sponsor the Genetics and Public Policy Fellowship to give …
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 … and of human development. MGB investigators focus on human genetics, vertebrate embryology, inborn errors of metabolism, … … Overview … Branch Staff … Featured Content … Medical Genetics Branch … The Medical Genetics Branch studies …