Medical Genetics seminars
June 2023
Epilepsy genetics 2023: From research to advanced clinical genetic test interpretation
Dennis Lal· Cleveland Clinic
Recorded
The presentation will provide an overview of the expanding role of genetic factors in epilepsy. It will delve into the fundamentals of this field and elucidate how digital tools and resources can aid in the re-evaluation of genetic test results. In the initial segment of the presentation, Dr. Lal will examine the advancements made over the past two decades regarding the genetic architecture of various epilepsy types. Additionally, he will present research studies in which he has actively participated, offering concrete examples. Subsequently, during the second part of the talk, Dr. Lal will share the ongoing research projects that focus on epilepsy genetics, bioinformatics, and health record data science.
May 2022
Mitochondrial leukodystrophies
Anna Ardissone· Institute of Neurology Carlo Besta, Milan, Italy
Recorded
January 2022
ASO RNA splice modulating therapies for genetic brain disorders
Willeke van Roon-Mom· University of Leiden, the Netherlands
Recorded
October 2021
X-linked adrenoleukodystrophies - Update
Caroline Sevin· Reference Center for Leukodystrophies, Hospital Bicêtre and Institute for Brain and Spine, Paris, France
Recorded
End of results.