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Thomas Meitinger, MSc, MD - "Finally, a Bavarian Genome Project: Exomes and Genomes for Rare Disorders"

Director, Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München and Director, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg
When Jun 27, 2018
from 12:00 PM to 01:30 PM
Where Tigem, Auditorium "Vesuvius"
Contact Name
Contact Phone 08119230659
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Abstract
Improved sequencing have greatly improved the diagnostic yield of monogenic disorders and facilitated the discovery of new disease genes. At the core of these efforts are analysis tools which integrate knowledge on variant identification and variant annotation. At the Institute of Human Genetics in Munich we are applying exome sequencing to prioritize pathogenic variation in a wide range of rare disorders with a focus on mitochondrial disorders. Allele frequencies combined with phenotypic filtering resulted in almost 50% of diagnosed cases in a cohort of 2.000 index patients with suspected mitochondrial disease. A pilot project with added transcriptome and proteome information improves this diagnostic yield (plus 5-10%) by adding information on splice site variation. Vitamins, cofactors and metabolites required for mitochondrial metabolism provide ample opportunities for targeted therapeutic interventions. In a concerted project of five university sites in Bavaria, whole genomes and transcriptomes will provide the data input to tackle unsolved cases. 


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