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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Human Genome Reference Program (HGRP)1
- 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
Staff
Rosann Wise is a program analyst in the Education and Community Involvement Branch at the National Human Genome Research Institute.
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… analyst at the National Human Genome Research Institute (NHGRI) in the Education and Community Involvement Branch (ECIB). In her role, Ms. …
Healthcare Provider Education Resources
An online repository of peer-reviewed collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician assistants, and physicians.
… counselors, nurses, pharmacists, physician assistants, and physicians. Use filters to quickly browse materials by topic and format, including the ability to find resources that qualify for continuing education credits. … GenomeEd Resources … Browse our online …
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.
… 5. … Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is … individuals. The variability of the clinical symptoms and developmental delays may be related to the size of the … widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy. The cat-like cry …
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 … including the interplay of genes, DNA variation and their interactions with environmental factors. … Genetics … including the interplay of genes, DNA variation and their interactions with environmental factors. … Genetics …
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 …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… patients. This page provides resources targeted to HCPs and their educators. Healthcare Professionals' Genomics … Building on the success of the 2022 social media campaign, NHGRI is planning another event from June 5–9, 2023, focusing … pharmacists, physician assistants, and physicians. Global Genetics and Genomics Community (G3C) : Collection of …
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 … needed for the development of new tests, therapies, and cures. This page provides an overview of the Genetic … how the confidentiality of records will be maintained. NHGRI has developed an informed consent resource  for …
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 … capitalize on partnerships with key laboratories at NHGRI, NIH, and worldwide. The Branch attracts patients with …
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. … A … factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse … … Our Research … Genetic Disease Research Branch … NHGRI branch studying how genetic changes affect the …