Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9

Thank you Brigham and Women's Medicine Residents for inviting me to this CPC, and to our coauthors Sonya Davey, Drs. Sun, Amato, and Loscalzo. We hope you learn through this patient’s rare disease how to structure an evaluation of common symptoms at the interface of medicine and neurology.

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16

Thank you to Prof. Ling-Ling Chen and the illustrators and editors at NEJM for nicely summarizing our study and its implications. 🙏

Congrats Philip Boone on receiving the ASHG Award for Outstanding Early Career Publication! He's a clinical geneticist and Instructor in my lab studying the impact of mutations in cohesin complex genes on genome organization and a cluster of syndromes known as cohesinopathies

We are delighted to announce this year's call for applications for the NHGRI-funded MGB T32 Postdoctoral Training Program in Precision and Genomic Medicine buff.ly/414Xajk Please RT or share w/ those who may be interested.

Check out our latest publication in Science describing a novel molecular mechanism involved in emotional experience dependent behavioral adaptation! Thank you to my mentors MakotoTaniguchi Chris Cowan the lab and the authors MUSC Research MUSC Department of Neuroscience science.org/doi/10.1126/sc…

Spliceopathies are a group of rare diseases caused by inborn errors in RNA splicing mechanisms. The causative mutations could be challenging to identify as they are often noncoding and sit within snRNA genes. Here the authors use a transcriptomics-first approach to screen

What if one variant can cause splicing outliers transcriptome-wide? Our preprint shows how examining transcriptome-wide patterns of splicing outliers can both diagnose individuals with rare spliceopathies and uncover a novel disease-gene relationship! (medrxiv.org/content/10.110…)

Thank you Amanda Keener, nature & Seegene USA for the great article about the powers of whole genome sequencing and our daughter's diagnostic journey. UDN Broad Institute Vijay Ganesh Anne O'Donnell-Luria Gemma Carvill, PhD Igor Ulitsky 💔 nature.com/articles/d4158…