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…

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…

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