Racing for a Cure for Long QT Syndrome: A Day with Dr. Das

Dr Saumya Das, PhD MD

Dr. Saumya Das, an established cardiologist from Massachusetts General Hospital and a leading researcher in the world of Long QT Syndrome, is a fascinating person to meet. While Saumya lights up when talking about about his children - he has a soccer-star son and twin daughters with a passion for horseback riding - he also shines the light on his research and the difficulties of treating patients with a chronic syndrome.

Saumya first became interested in medicine listening to stories from his grandfather, who was also a physician. He enjoyed learning about the intellectual side of medicine and the pursuit of treating disease. As he began his own medical journey, he fell in love with the human side of medicine. He has had some of the same patients for generations, watching them become parents and treating their families and describes these people as his extended work family.

When asked to explain Long QT, Dr. Das described it as a specific genetic condition that Long QT patients are born with. The heart is an electrical organ which provides blood to other organs. To pump blood, the heart needs to squeeze, and this requires calcium to facilitate an electrical response within heart cells. This calcium balance is regulated by electrical flow into the heart by proteins called ion channels; problems with ion channel function due to mutations can lead to dangerous, disordered rhythms due to irregulators of electrical current flow into heart cells. These irregular heart rhythms are what cause the devastating effects of Long QT Syndrome such as seizures, cardiac arrest and in some cases, death.

A condition affecting young people is always heartbreaking. When asked how the syndrome affects the lives of his patients and their families, Saumya somberly replied,

“They describe it as a bomb waiting to go off. The anxiety and uncertainty of not knowing when an attack may occur can be very triggering.”

He also explained that some patients who have experienced a cardiac arrest will have defibrillators implanted to shock their heart back to a normal rhythm. These shocks are very painful and, not surprisingly, some patients live with a type of post-traumatic stress disorder as a result. Although the effects of Long QT are varied, the fear of the unknown is not. This is why Saumya is so passionate about researching treatment.

One hypothesis Saumya has been working on for many years is the idea of blocking a protein known as SGK1 (serum and glucocorticoid responsive kinase) that controls ion channel function. Saumya and his collaborators’ animal and stem-cell research both seem to validate that when SGK1 is elevated and active, the heart is more likely to have arrhythmias. Therefore, a therapy which blocks SGK1 may help prevent these arrhythmias from occurring.

Although Dr. Das has had a very successful career so far, he remains humble, and when asked about a proud career accomplishment, his answer reflects his humble demeanor. He is most proud of the students he has mentored throughout his career - many who have gone on to be great doctors. He is happy to be imparting knowledge that will help the next generation succeed.

He is also proud of his work contributing knowledge to the development of novel therapies which could help his patients in need. As a concept, the blockade of SGK1 as a therapeutic approach had very little research until about 15 years ago. Thanks to Dr. Das, this idea and future efforts to bring these therapies to patients now could help save lives.

Outside of work, Saumya likes to stay active and healthy. He loves to run and has even dabbled in rock climbing. He loves the outdoors, and as mentioned earlier, is very proud of his three children. We are thankful to have Dr. Das as a part of a team of drug development experts focussed on delivering on the promise of his research.

Real Life LQTS Journeys

To see what the different types of LQTS look like in the lives of everyday people, please visit the stories shared by those diagnosed with LQTS. These incredibly brave individuals have shared their symptoms, diagnoses, treatments and how LQTS influences their lives, so we can be informed and bring the LQTS community together.