2021 Interpreting the Genetic Testing Report - Dr. Duncan Baker & Dr. Neeti Ghali

This presentation is from the 2021 EDS ECHO Summit: Vascular Ehlers-Danlos Syndrome (vEDS). vEDS is a genetic connective tissue disorder that causes the blood vessels and organs to be fragile and prone to tearing. The complications of vEDS can be life-threatening and include aneurysm, dissection, and rupture of the arteries and rupture of organs. vEDS may also cause a variety of other symptoms, including extensive bruising and spontaneous pneumothorax. https://www.ehlers-danlos.com/what-is...

Neeti Ghali has been working as a consultant in Clinical Genetics at Northwick Park Hospital since 2011. She sees patients with suspected connective tissue disorders and aortopathy through the North West Thames Regional Genetics Service and Royal Brompton & Harefield Hospitals and works in the National EDS service. She assesses patients and families with suspected rare types of EDS and carries out investigations including genetic testing to understand more about the basis of their disorders. She also runs joint clinics with adult and paediatric cardiology (St. Bartholomew’s Hospital and Great Ormond Street Hospital respectively) and is involved in audit, research and publications on EDS with national and international collaborations.

Duncan Baker has been a clinical scientist in diagnostic laboratory genetics for 18 years. Currently he is the lead scientist for the Musculoskeletal disorders services, which includes EDS and is based in the Yorkshire and North East Genomics Laboratory Hub.