Medical Genetics seminars
October 2020
De novo mutations in autism and contributions from sperm mosaicism
Joseph Gleeson· UC San Diego; Rady Children's Institute for Genomic Medicine
Wed, Oct 7 · 05:00 UTC · Online
September 2020
Epigenetics and Dementia: Lessons From the 20-Year Indianapolis-Ibadan Dementia Study
Adesola Ogunniyi· University of Ibadan
Tue, Sep 29 · 15:00 UTC · Online
Dementia is of global interest because of the rapid increase in both the number of individuals affected and the population at risk. It is essential that the risk factors be carefully delineated for the formulation of preventive strategies. Epigenetics refers to external modifications that turn genes "on" or "off”, and cross-cultural studies of migrant populations provide information on the interplay of environmental factors on genetic predisposition. The Indianapolis-Ibadan Dementia Study compared the prevalence, incidence and risk factors of dementia in African Americans and Yoruba to tease out the role of epigenetics in dementia. The presentation will provide details on biomarkers of dementia, vascular risk factors and the association with apolipoprotein E in the Yoruba. The purpose will be to inspire early career researchers on possibilities and research strategies applicable in African populations
Rescue of SynGAP expression in SYNGAP1 Syndrome: Antisense Oligonucleotides (ASOs), small molecules, & viral genetic rescue
Richard Huganir· Johns Hopkins University
Thu, Sep 17 · 00:00 UTC · Online
A challenge in neurogenetics: Huntington disease in kids
Ferdinando Squitieri· Fondazione IRCCS Casa Sollievo Sofferenza & CSS-Mendel Institute, Italy
Recorded
July 2020
Exploring the Genetics of Parkinson's Disease: Past, Present, and Future
Andrew Singleton· National Institute on Aging
Tue, Jul 28 · 15:00 UTC · Online
In this talk, Dr Singleton will discuss the progress made so far in understanding the genetic basis of Parkinson’s disease. He will cover the history of discovery from the first identification of disease causing mutations to the state of knowledge in the field today, more that 20 years after that initial discovery. He will then discuss current initiatives and the promise of these for informing the understanding and treatment of Parkinson’s disease. Lastly, Dr Singleton will talk about current gaps in research and knowledge and working together to fill these.
End of results.