The Center for Digital Genomic Medicine is hosting “Advances in Research and Care for Patients with Rare Diseases: Resources, Knowledge and Implementation”. The event will be 10 a.m.-noon Oct. 7 in 214 Light Hall.
This event will highlight recent work advancing the ability to study rare diseases, better understand and recognize clinical presentation, and enable earlier intervention to improve care.
Speakers and Topics:
- Douglas Ruderfer, Director, Center for Digital Genomic Medicine – Introduction
- Lisa Bastarache, Research Associate Professor – How to use the Clinical Genetic Database
- Cathy Shyr, Assistant Professor – Phenotypic profiles of rare disease patients and reference growth curves
- Cecile Avery, Postdoctoral Research Fellow – The impact of rare, pathogenic TTR variants on heart failure
- Brett Kroncke, Assistant Professor – Approach to predicting outcomes for patients with diagnosed genetic disease
- Lucas Richter, Genetic Counselor – Systematic Identification of Genetic Health Testing (SIGHT): A Randomized Control Trial of Machine Learning–Based Identification of Patients for Genetic Testing
Please fill out this REDCap survey.
If you have any questions, please contact Brian Aloisi, Director of Operations in the Center for Digital Genomic Medicine, at brian.aloisi@vumc.org.
