Grateful Patient Funds New Research into Rare But Deadly Aortic Dissection

After receiving life-saving surgery for an acute aortic dissection (AAD) at Mass General a few years ago, a former patient is helping to fund research into this rare but extremely life-threatening condition.

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(Above, Mark Lindsay, MD, PhD, is conducting a study to search for the genetic underpinnings of acute aortic dissection.)

An AAD begins with a tear in the inner layer of the artery. This tear than allows
blood to leak between layers of the artery, increasing the risk of an aortic rupture.

Chris Toomey, who suffered an AAD and survived following a 10-hour operation and a medically induced coma that lasted more than a week, is now helping to fund a large scale collection of genetic samples from people who have also experienced AAD, with the hope of generating better predictive tests and therapeutic strategies.

The long term, multi-center study is being led by Mark Lindsay, MD, PhD (pictured above).

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Newly Identified Gene Variants that Modify the Onset of Huntington’s Disease Could Lead to New Therapeutics

Researchers from the Mass General Research Institute have used an innovative approach to pinpoint two locations on the human genome that influence the rate at which Huntington’s disease (HD), a debilitating neurodegenerative disorder, develops in those carrying the HD gene defect.

By studying the samples from more than 4,000 HD patients, researchers were able to identify two genetic variants in areas distinct from the mutated gene that causes the disease.

These variants were more common in HD patients who developed symptoms at atypical times—either earlier or later than expected.

The findings imply that these genetic differences can alter the timing of the onset of the disease, which in turn could help devise ways to start treatment or preventative measures before symptoms appear.

James Gusella, PhD, director of the Center for Human Genetic Research at Mass General, is corresponding author of the report.

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When Medicine Meets the Arts

Did you know that Mass General has an official “writer-in-residence?” Primary care physician Suzanne Koven, MD, is first to hold the role in the hospital’s 200+ year history.

Koven, whose work frequently appears in the Boston Globe and other publications, has observed that medicine’s crucial element—the clinician-patient relationship—has become threatened as the profession becomes increasingly technology-driven. She and
other physicians believe that integrating creative arts such as writing, art and music with the practice of medicine can help reduce physician burnout, foster empathy and enhance patient-doctor communication.

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**Koven will be appearing at the Paul S. Rusell, MD, Museum along with WBZ-TV medical reporter Mallika Marshall to talk about the dual challenges of practicing medicine and reporting on medicine. The event is part of the Women in Medicine series sponsored by the Mass General Research Institute.**

Find more details and register for free