Search Results
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 …
OGDS
NHGRI held a second pre-application webinar for potential applicants on the Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 27, 2023 at 2:00 pm ET.
… Attendees can ask questions during the webinar and are encouraged to email questions in advance to Dr. … at sensh@mail.nih.gov . … Questions … Related Events … NHGRI held a second pre-application webinar about the Notice … Opportunities for Computational Genomics and Data Science Education NOFO … NHGRI held a second pre-application webinar …
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. …
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.
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 …
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. … Talking Glossary of Genomic and … way by leading scientists and professionals at NHGRI. NHGRI Image Gallery : Provides imagery related to the … pharmacists, physician assistants, and physicians. Global Genetics and Genomics Community (G3C) : Collection of …
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 …