Background: Small nuclear RNAs (snRNAs) are RNA components of the major and minor spliceosomes that play a core role in splice-site recognition and control of the splicing process. Variants in genes t...

In the last two years my science world has been turned completely upside down. The starting point: a discovery in early 2024 of a highly prevalent yet previously unrecognised neurodevelopmental disord...

Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes…

This week on The Genetics Podcast, Patrick is joined by Dr. Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at the Big Data Institute, University of Oxford. They discuss t...

After years of medical struggles, Jessica Margrill ’01 finally got a diagnosis for her son; now, she and Heather ’05 are helping others

An experimental gene therapy slowed Huntington’s by up to 75 percent in a small clinical trial. While not a cure, it may give patients longer lives.

Germline pathogenic BRCA1 variants predispose women to breast and ovarian cancer. Despite accumulation of functional evidence for variants in BRCA1 , over half of reported single-nucleotide variants (...

Hi I’m Claire mum to Finley who is 19 years old and recently diagnos… Claire Stockton needs your support for Help us to set up the ReNU Syndrome UK Charity

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