Suresh Somarathi

Professor Sarah Smithson delivering prestigious CGS lecture for 2025. Decades of clinical excellence and pioneering research helping families with skeletal dysplasia and rare diseases. #CGS2025 @clingensoc

More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. bit.ly/3IhIN48 #Marfansyndrome @alistairp2011 @SureshSomarathi @LaughingGenome @smbanka @JamesFasham @ProfDBaralle @RDExeter @GenomicsEngland

The last talk of Robin Winter Prize entries- Jaynee Chauhan talking about cardiac involvement in MYO6. #CGS2025 @clingensoc

Titiksha Masand presenting a case series with neonatal central apnoea as presenting feature of an underlying genetic condition. #CGS2025 @clingensoc

Katrina Stone providing an update on the Generation Study. #CGS2025 @clingensoc

Pamela Brown discussing NIPT to detect parental variants in KCNJ11 and ABCC8 genes providing an opportunity for in utero targeted treatment #CGS2025 @Clingensoc

Harriet Cullen talking about CAG length and brain imaging findings with normal and intermediate alleles in Huntingtin gene #CGS2025 @clingensoc

Rachel Coles presenting about a pilot virtual triage advice meeting for the Paediatricians #CGS2025 @clingensoc

Steve Twigg talking about MRC NMGN Congenital Anomalies Clusters: modelling variants of uncertain significance in mice. #CGS2025 @clingensoc

Sue Kimber presenting on using human pluripotent stem cells for Disease modelling and identifying therapeutic targets #CGS2025 @clingensoc #rarediseasetherapeutics

Great start to the model systems for genomic variant interpretation session. @MeenaBalasubra5 giving insights from Disease Model Systems-Advancing our understanding and role in Therapeutics. #CGS2025 @clingensoc

Great start to the model systems for genomic variant interpretation session. @MeenaBalasubra5 giving insights from Disease Model Systems-Advancing our understanding and role in Therapeutics. #CGS2025 @clingensoc

Samuel Liebert discussing the importance of diagnostic registration for variant identification. #CGS2025 @clingensoc

Julie Vogt discussing the role of whole genome sequencing through R441 panel in SIDS and SUDC. #CGS2025 @clingensoc

Ayse Kavasoglu presenting a case of TBCK- related encephalopathy associated with early-onset osteoporosis. #CGS2025 @clingensoc

Neeta Lakhani discussing about silent Cis carriers in SMA #CGS2025 @clingensoc

Julia Foreman talking about DECIPHER updates - sharing data and variant interpretation tools. @clingensoc #CGS2025

Sophie Allen talking about germline FH variants in HLRCC. #CGS2025 @clingensoc

Emily Anderson giving overview of the new Clinical Excellence Network and cleft genetics. #CGS2025 @clingensoc #Colloborationsinraredisease