LRHG Course: Lecture 19 - The Monogenic Architecture of Retinal and Neurological Diseases
The title of the lecture was: ‘The Monogenic Architecture of Retinal and Neurological Diseases’.
May 03, 2023
The Logical Reasoning in Human Genetics course lecture 19th took place on May 3rd ⏰10 AM (ET) | 3 PM (GMT+1).
The title of the lecture was: ‘The Monogenic Architecture of Retinal and Neurological Diseases’ and it was delivered by Dr. Winston Lee, Postdoctoral Fellow in the Department of Genetics & Development at Columbia University Medical Center.
Dr. Lee recently received his Ph.D. in Genetics and Development at Columbia University Irving Medical Center, where he spent the past decade, prior to graduate studies, working as a clinical investigator. His research over the past decade has been devoted to understanding monogenic inherited diseases of the retina (ABCA4, PRPH2, ROM1, CRX, CNGβ1, PROM1, RHO, ROM1, among many others) and most recently, monogenic neurodevelopmental diseases of the brain (CERT1, PUM1 and CPSF6). All research questions underlying his projects are derived from observations embedded deep within the clinical phenotypes of patients. His specific focus is on reconciling the complex relationship between the numerous pathogenic variants within a single gene, which they detect by next-generation sequencing approaches, and the profoundly heterogeneous spectrum of phenotypes in patients. For diseases of the retina, phenotypic and data are directly acquired using standard and custom imaging modalities such as fundus autofluorescence, optical coherence tomography, electroretinography, microperimetric mapping, among others. Relying on patients as the primary source of information has two main advantages. First, the proximity to the clinic ensures that scientific breakthroughs have direct and immediate “bedside” applicability. Second, their approach allows them to answer “big questions” about a gene’s disease etiology in creative ways that may not be possible from a more traditional reductionist perspective.