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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 …

Event

NHGRI Genomic Consultation Research Working Group

On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.

… the design phase, and we hope to begin late 2023. This is a ROUGH outline forwhat we plan to do. The program is … number/pager/email that any UAB physician can use to ask for assistance in ordering genetic testing. The initial … service in EPIC but it really just turned into a referral method as opposed to consultprocess. Vanderbilt …

Event

Bold Predictions for Human Genomics by 2030: An NHGRI Seminar Series

A 10-part seminar series in 2021 that focuses on the “Bold Predictions for Human Genomics by 2030” that are described in NHGRI’s “Strategic Vision for Improving Human Health at the Forefront of Genomics.”

… 4:30 p.m. ET Bold Prediction #1: Generating and analyzing a complete human genome sequence will be routine for any research laboratory, becoming as straightforward as … … Past Lectures … Related Content … NHGRI will host a new seminar series this year on the “Bold Predictions for …

Event

Roundtable discussion: “The Promise and Perils of Social and Behavioral Genomics”

On January 25, 2023, the National Human Genome Research Institute will hold a roundtable on social and behavioral genomics.

… NHGRI 1:10 - 1:40 p.m. — Moderated Discussion: Genetics in postwar social and behavioral research Moderator: Nayanika … Oxford and Nuffield College 1:40 - 2:00 p.m. — Audience Q&A 2:00 - 2:10 p.m. — Break 2:10 - 2:40 p.m. — Moderated … January 24, 2023 Avoiding Ableist Language: Suggestions for Autism Researchers by Kristen Bottema-Beutel, Steven K. …

Event

History of Molecular Biology and Genomics Lecture Series

Lectures series that increases understanding of genomics in the scholarly community and presents contemporary research of immediate interest to NHGRI staff.

… Resources … The NHGRI History of Molecular Biology and Genomics Lecture Series emerged out of the Capturing the … of Genomics workshop with the explicit purpose of bringing in talented and well-known historians, sociologists and … series is to increase the understanding of genomics in the scholarly community and to present contemporary …

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 …

Videos

GenomeTV Live

GenomeTV is the National Human Genome Research Institute's collection of videos, including live event coverage, scientific lectures, and documentaries.

… Air Your browser does not support the video tag. … Missed a live webcast? NHGRI uses Vimeo as the platform for live events. Visit our Vimeo channel (for webcasts after September 2021). Please note that webcasts …