ASHG Satellite Event: Solving the unsolved – diagnosing complex clinical cases with confidence
Thursday 17th October
12:30 – 14:00
Room 339AB, Level 3, Hilton Americas-Houston
In this ASHG 2019 satellite event, speakers from three international Centers of Excellence will outline how their institutions are optimizing the diagnosis of complex clinical cases in order to provide improved patient outcomes.
Using specific case examples as illustrations the speakers will discuss how they have increased their diagnostic yield and efficiency, using gold-standard tools and best practice.
This event is a must see event for everyone working with in the field of complex inherited diseases and trying to solve the unsolved.
Genomic analysis of developmental disabilities – solving difficult clinical scenarios using the Congenica platform
Milen Velinov MD, PhD, Clinical Associate Professor, Icahn School of Medicine at Mount Sinai and Director, George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities
Maximizing Diagnostic Yield: Application of a variant interpretation platform to a cohort of patients with epilepsy and learning disability
Katherine Benson, PhD, Postdoctoral Researcher, Royal College of Surgeons Ireland (RCSI)
The utility of exome sequencing in prenatal oedema phenotypes
Dr Esther Dempsey BSc MBBS MSC MRCPCH, British Heart Foundation Clinical Research Fellow, St George’s University of London
Register Your Interest