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AES 2022 | Whole genome sequencing project in tuberous sclerosis complex

Gabrielle Rushing, PhD, TSC Alliance, introduces the TSC Alliance Whole Genome Sequencing (WGS) Pilot Study. The project aimed to expand the genetic dataset in the TSC Alliance’s Natural History Database (NHD), a valuable resource for researchers of tuberous sclerosis complex (TSC). DNA samples from 20 patients were submitted for WGS. Of these, a known disease variant in TSC1/2 was found in 13 patients. In a further 6 patients, novel variants were identified. Only one sample had no clear variant in TSC1/2. Patients who opted to participate in WGS were also given the option to receive their results alongside genetic counseling. This pilot study has led to the establishment of a larger WGS project that will aim to sequence 500 patients with TSC, to provide a rich dataset for researchers to investigate novel genetic factors and genotype-phenotype correlations. This interview took place at the American Epilepsy Society (AES) Annual Meeting 2022 in Nashville, TN.

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