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Genomics and Medicine

Accomplishments in Genomic Medicine (OLD)

The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.

… The NHGRI Genomic Medicine Working Group (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov . …

Genomics and Medicine

Accomplishments in Genomic Medicine

A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).

… Search for specific publications by title, author, category and/or … The NHGRI Genomic Medicine Working Group (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for …

Genomics and Medicine

Genomic Medicine Year in Review

Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.

… in diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US populations … inherited retinal disease with gene editing Validation of a clinical breast cancer risk assessment tool for all … … Genome sequencing may be the method of choice for detecting repeat expansion disorders …

News Release

NIH statement on new FDA-approved gene therapies for sickle cell disease

The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.

… and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years … of people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come … directly from people with sickle-cell disease. One of the new sickle cell treatments uses the CRISPR gene-editing …

News Release

Differences in our DNA have major influences on how our genomes function, but how?

Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.

… Each person has several million genomic variants and only a very small subset of these variants play a role in human … Ph.D., are planning to screen around 250,000 variants for their function in regulating other genes and in various … have already made progress in developing a new method called BEAN (Base Editor screen analysis with Activity …

For Patients and Families

Genetic Disorders

A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.

… Many human diseases have a genetic component. Some of these conditions are under … This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means … comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from …

Event

IGVF Consortium Pre-Application Webinar - September 3, 2020

NHGRI is hosting a pre-application webinar on September 3, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).

… Notices NOT-HG-20-055 : Notice of Pre-Application Webinars for the Impact of Genomic Variation on Function (IGVF) … Profiling of Regulatory Element and Gene Activity in Relationship to Genome Function (UM1 Clinical Trial Not … … The National Human Genome Research Institute will host a pre-application webinar for the Impact of Genomic Variation …

Event

IGVF Consortium Pre-Application Webinar - September 9, 2020

NHGRI is hosting a pre-application webinar on September 9, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).

Fact Sheet

Understanding gene therapy approaches

A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.

… how these components differ and other treatment options for sickle cell disease, such as bone marrow transplant.  … understand these various approaches. … Types of treatments A variety of approaches target the blood stem cells to reduce … a stem cell transplant, your stem cells are replaced with new stem cells that have genes that do not code for sickle …

Genetic Disorders

About Colon Cancer

Colon cancer is a malignant tumor of the large intestine that affects both men and women.

… Colon cancer, a malignant tumor of the large intestine, affects both men and women. In the United States, approximately 160,000 new cases of colorectal cancer are diagnosed each year. … … these mutated genes from an affected parent is 50 percent for both males and females. Scientists have discovered …