GHGA Lecture Series: Rami Abou Jamra (virtual)

• 21 May 2025

Rami Abou Jamra from the University Leipzig will talk about "Genome sequencing for rare disease diagnostics: uncovering hidden causal variants"  at the GHGA lecture series "Advances in Data-Driven Biomedicine" on May 21, 2025.

Registration open soon.

Biography:

Medical School in Damascus, doctoral thesis, specialization to Human Geneticist (Facharzt), and postdoctoral lecture qualification (Habilitation) at the Institute of Human Genetics in Bonn. After focusing on complex genetics of psychiatric disorders, Rami's research focus is since 2008 the genetics of intellectual disability in special and of rare disorders in general. After he led a working group in Erlangen between 2010 and 2014, he was the Medical Director of Centogene in 2015. Since 2016 I am a consultant (Oberarzt) at the Institute of Human Genetics in Leipzig, the deputy of the Institute Director, the Medical Director of the MVZ, and a professor of Medical Genomics at the Faculty of Medicine in Leipzig. His main focus is on genetics diagnostics, research on the genetics of intellectual disability, teaching, as well as strategic development of efficient clinical genomics.

Abstract:
Massively parallel sequencing has transformed clinical medicine by identifying causal variants underlying rare genetic disorders, often through large gene panels or exome sequencing. While these approaches have enabled key diagnostic and therapeutic insights, a majority of patients with rare diseases still lack a molecular diagnosis. Genome sequencing offers broader variant detection capabilities, including structural and deep intronic variants, with improved coverage uniformity. However, the incremental diagnostic yield and clinical impact of genome sequencing remain uncertain. Through the Broad Center for Mendelian Genomics and the Rare Genomes Project, we analyzed over 8,000 families with suspected monogenic diseases, evaluating genome sequencing’s effectiveness where exome sequencing fell short. Our findings, further tested in an independent clinical cohort, provide insights into the specific advantages of genome sequencing and its potential for improving rare disease diagnosis. This talk will explore the key features that drive successful diagnoses and the broader implications for genomic medicine.