@MatchMExchange

International federated network of genomic matchmaking services, facilitating discovery through the exchange of genotypic and phenotypic profiles

matchmakerexchange.org/
Joined February 2016
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9Media
Special Issue just released of @WileyBiomedical Human Mutation “Matchmaker Exchange: Seven Years of Discovery and Collaboration” guest edited by Drs. Kym Boycott, @AdaHamosh and @HeidiRehm onlinelibrary.wiley.com/toc/… (1/18)

Matchmaker Exchange: Seven years of discovery and collaboration: Human Mutation: Vol 43, No 6

Click on the title to browse this issue

onlinelibrary.wiley.com
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Broad Institute@broadinstitute24 Oct 2024
A new, rare genetic disorder is the 1st human disease caused by loss of one copy of a long noncoding RNA gene. The family of Emma Broadbent, the first person diagnosed with the CHASERR-related disorder, was instrumental in the discovery & her diagnosis. broad.io/Chaserr
Brian and Julia Broadbent are raising their daughters Claire, top left, and Emma, seated.

ALT Brian and Julia Broadbent are raising their daughters Claire, top left, and Emma, seated.

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Vijay Ganesh@VGaneshMDPhD24 Oct 2024
Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10 nejm.org/doi/full/10.1056/NE…

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene | NEJM

CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our ...

nejm.org
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FUTURUMCareers
@FUTURUMCareers7 Mar 2023
Growing up with Charcot-Marie-Tooth disease motivated Prof James Lupski (@LupskiLab) to pursue a #career in #genetics. Read the inspiring story of how researchers in his #clinical #genomics lab discovered the gene responsible for James’ genetic condition: futurumcareers.com/the-human…
"Human genetics is the study of humans, by humans. It has been an incredible privilege to be both the subject and investigator in clinical genomics research efforts." Professor James Lupski Clinical Genomicist, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas, USA

ALT "Human genetics is the study of humans, by humans. It has been an incredible privilege to be both the subject and investigator in clinical genomics research efforts." Professor James Lupski Clinical Genomicist, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas, USA

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“Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery” onlinelibrary.wiley.com/doi/… reports on @C4RCanada web-accessible platform sharing Canadian phenotypic & multiomic data between researchers (17/18)
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Thank you to all contributors to the special issue! Visit matchmakerexchange.org to learn more about Matchmaker Exchange and how it may fit into your work. There are many more gene-disease relationships yet to be discovered. (18/18)
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