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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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News Release
NHGRI marks its fourteenth annual National DNA Day by organizing a nationwide network of educational events for students, teachers and health professionals.
… year's speaker is NHGRI's own senior investigator in the Genetic Disease Research Branch, William J. Pavan, Ph.D. His …
News Release
NHGRI hosted a CRISPR "Ask Me Anything" with Jennifer Doudna, Ph.D., reaching 10.5 million people worldwide.
… In 2008, I sponsored a bill that became law, called the Genetic Information Nondiscrimination Act or more commonly known as GINA. GINA prevents genetic discrimination in employment and health insurance. … CRISPR-based genome editing doesn't create new avenues for genetic-based discrimination in future generations? From …
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… Genetics Home Reference - What is the ENCODE Project? Genetic Alliance - Beyond The DNA-Your Informative Guide to …
Policy Issues
The Genome Statute and Legislation Database is comprised of state statutes and bills introduced during U.S. state legislative sessions.
… team keeps this database up to date. National Society of Genetic Counselors To find information about state genetic counselor licensing laws, visit the National Society of Genetic Counselors’ website. NHGRI’s Genome Statute and …
News Release
NHGRI, NMNH and the NIH Foundation will present a symposium on the future of genomics, health, and the impact of genomics globally.
… Columnist Barbara Bowles Biesecker, Ph.D., Director, Genetic Counseling Training Program, NHGRI and The Johns … David Valle , M.D., Professor and Director, Institute of Genetic Medicine, The Johns Hopkins University School of …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… on the efficacy of gene therapy as a treatment for rare genetic disorders, such as methylmalonic acidemia (MMA), … system and manufacturing methods for multiple rare genetic diseases. Based on his pioneering work using AAV gene … delivery, genome editing, and mRNA therapy, to cure rare genetic disorders. The primary focus of his research has been …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… hoped that most forms of cancer were driven by single genetic mutations and could be treated by drugs that target … myeloid leukemia (CML). CML occurs because of a single genetic glitch that leads to the production of a defective … genomes of cancer cells have found an array of different genetic mutations that can lead to the same cancer in …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… and treating many types of cancer. Cancer  is a group of genetic diseases that result from changes in the genome of … Case Study Teaching in Science - Colon Cancer: A Case of Genetic Bad Luck? The National Cancer Institute - The … Genomics Education Program The Jackson Laboratory -  Genetic Testing for Breast Cancer Course NHGRI - My Family …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of the chromosome is duplicated, resulting in extra genetic material. Translocations: A portion of one chromosome … off, turned upside down, and reattached. As a result, the genetic material is inverted. Rings: A portion of a … a circle or ring. This can happen with or without loss of genetic material. Most chromosome abnormalities occur as an …