MatchmakerExchange

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/10981004/2… (1/18)

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

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/10.10…

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-stor…

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)

“Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery” onlinelibrary.wiley.com/doi/10.1002/hu… reports on @C4RCanada web-accessible platform sharing Canadian phenotypic & multiomic data between researchers (17/18)

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/10981004/2… (1/18)