Personalised penetrance estimation for C9orf72 ALS / FTD
Thu, Oct 17
|Zoom Webinar
Senior researchers at Oxford University have published a new method for calculating personalized penetrance (or risk of disease) estimates for people impacted by C9orf72 based on family history. Hear from the lead author in this webinar.
Time & Location
Oct 17, 2024, 9:00 AM – 10:00 AM PDT
Zoom Webinar
Guests
About the event
The c9orf72 repeat expansion and its link to ALS and FTD was discovered by analyzing the DNA of many families impacted by autosomal dominant disease with many impacted family members. After discovery its occurrence in cases with no family history was documented. Intuitively , it would make sense that in families with lots of als or FTD cases, and families with little or no cases, the risk of disease in the future would be different. Dr Andrew Douglas and others at Oxford have just published a way to calculate this risk if pedigree information is available. Hear about this development in this webinar. A Q & A will be available at the end of the webinar, but no specific calculations will be conducted in this setting.
Dr Andrew Douglas is a consultant in clinical genetics at the Oxford Centre for Genomic Medicine. He has a specialist interest in neurogenetics and…
Tickets
Webinar Link
The link to the webinar will be emailed to you prior and is included here: https://zoom.us/j/91285283882?pwd=Q6zyrR8p7BYklSpDBFX7hTytnzBgUo.1
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