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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.

The GMWG published the following notable accomplishments:


Search for specific publications by title, author, category and/or by date range.  For an explanation about the selection criteria and categories, see the list of categories and their definitions.

2024

September 25, 2024 - Gene Therapy with Fidanacogene Elaparvovec in Adults with Hemophilia B

First Author: Cuker A

Category: Pilot Implementation

September 02, 2024 - Plozasiran for Managing Persistent Chylomicronemia and Pancreatitis Risk

First Author: Watts G

Category: Pilot Implementation , Other

July 13, 2024 - Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals

First Author: Galer P

Category: Risk Assessment/Prediction

July 02, 2024 - Benefits for children with suspected cancer from routine whole-genome sequencing

First Author: Hodder A

Category: Impact/Outcomes , Oncology

May 08, 2024 - The translational gap for gene therapies in low- and middle-income countries

First Author: Doxzen KW

Category: Resource

May 06, 2024 - Gene Editing for CEP290-Associated Retinal Degeneration

First Author: Pierce EA

Category: Other

February 27, 2024 - Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

First Author: Kingsmore SF

Category: Resource

2023

November 28, 2023 - Personalized medicine in a community health system: the NorthShore experience

First Author: David SP

Category: Resource

November 09, 2023 - Actionable genotypes and their association with lifespan in Iceland

First Author: Jensson BO

Category: Resource

October 31, 2023 - CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters to Treat Sickle Cell Disease

First Author: Sharma A

Category: Other

October 02, 2023 - Testing and management of iron overload after genetic screening-identified hemochromatosis

First Author: Savatt JM

Category: Impact/Outcomes

August 28, 2023 - Cell-free DNA methylome analysis for early preeclampsia prediction

First Author: De Borre M

Category: Risk Assessment/Prediction

August 03, 2023 - Beyond the exome: What's next in diagnostic testing for Mendelian conditions

First Author: Wojcik MH

Category: Resource

July 16, 2023 - Implementation of precision medicine in healthcare - A European perspective

First Author: Stenzinger A

Category: Resource

June 08, 2023 - Integrated multi-omics for rapid rare disease diagnosis on a national scale

First Author: Lunke S

Category: Pilot Implementation , Undiagnosed Diseases

Last updated: October 8, 2024