Cardiac Inherited Disease Registry
Identifying people at risk of sudden cardiac death
Tragically, some genetic heart conditions only come to light when someone dies of a sudden cardiac episode. To help identify those at risk, our researchers have set up a registry of survivors to identify the genetic mutations involved in their sudden cardiac event, and alert and test family members for the same mutations. Your support will help us continue this genetic research, so medications to prevent or treat these diseases can be developed.
“Our research is making an important, life-saving impact. Many of our cases are young, healthy and productive members of the community and their death has a profound impact. Understanding more about those disorders allows us to ‘Detect, Protect and Enable’ these bereaved families.”
Links to Articles
Here are some articles that our researchers are involved in
Functional hyperactivity in long QT syndrome type 1 pluripotent stem cell-derived sympathetic neurons
By: Annika Winbo, Suganeya Ramanan, Emily Eugster , Annika Rydberg, Stefan Jovinge, Jonathan R Skinner, Johanna M Montgomery
PMID: 34142889 DOI: 10.1152/ajpheart.01002.2020
By: D. Gelbart, N. Earle, R. Stiles, T. Donohughe, A. Winbo, L. Marcondes, A. Martin, M. Stiles, J. Skinner.
2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families
Martin Stiles, Arthur Wilde, Dominic J. Abrams, Michael J. Ackerman, Christine M. Albert, Elijah R. Behr, Sumeet S. Chugh, Martina C. Cornel, Karen Gardner, Jodie Ingles,Cynthia A. James, Jyh-Ming Jimmy Juang, Stefan Kääb, Elizabeth S. Kaufman,Andrew D. Krahn, Steven A. Lubitz,Heather MacLeod, Carlos A. Morillo, Koonlawee Nademanee, Vincent Probst, Elizabeth V. Saarel, Luciana Sacilotto, Christopher Semsarian, Mary N. Sheppard, Wataru Shimizu, Jonathan R. Skinner, Jacob Tfelt-Hansen, Dao Wu Wang