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EducateNext: Small Nuclear RNAs in Rare Disorders

Wednesday, December 2, 2026
10:00 am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

Continuing Education Credit: This live webinar is eligible for CE credit. A recorded version will be available for CE credit on education.ambrygen.com approximately 1 month following the live presentation.

Description: 

Traditionally, genetic testing for rare disorders has focussed on protein-coding regions of the genome, however, with this approach fewer than half of all patients receive a genetic diagnosis. This talk will focus on analysis of Genome sequencing data from the UK National Genomics Research Library and how this led to characterisation of the substantial role of spliceosomal small nuclear RNAs (snRNAs) in previously undiagnosed rare disorders. It will describe the impact of these discoveries on patients and their families and chart recent and ongoing research in the field, including new guidelines and tools for clinical variant interpretation.

Level of Instruction: Basic

Learning objectives: 
  1. Describe the role of small nuclear RNAs in rare disorders.
  2. Investigate the pathogenicity of variants in small nuclear RNA genes in neurodevelopment disorders.
  3. Summarise ongoing research and current gaps in knowledge around small nuclear RNAs in rare disorders.

Ambry Genetics is an approved provider of continuing education by NSGC and ASCLS P.A.C.E ® Programs. 

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N_Whiffin Headshot
Nicky Whiffin, PhD, FMedSci
Speaker
Nicky Whiffin is an Associate Professor at the University of Oxford’s Big Data Institute and Centre for Human Genetics and a visiting researcher at the Broad Institute. Nicky leads a research team that specialises in analysis of large genome sequencing datasets to uncover genetic variants that cause rare diseases and to identify novel therapeutic targets. She is particularly interested in non-coding regions of the genome and gene regulation. Nicky is an expert in the annotation and interpretation of variants in non-coding regions of the genome, for which she has led the creation of clinical guidelines. Nicky was awarded a 2024 Lister Institute Research Prize, the 2025 Balfour Lecture from the UK Genetics Society, and the 2026 Leena Peltonen Prize from the European Society of Human Genetics. In 2026 was elected a Fellow of the Academy of Medical Sciences.