Massachusetts General Hospital is home to the largest hospital-based research enterprise in the U.S., with an annual budget of nearly $1.3 billion in 2022. The Mass General Research Institute comprises more than 9,500 researchers working across more than 30 institutes, centers and departments.
But what do each of these groups do? Learn more about the individual labs and centers in our #ThroughTheMagnifyingGlass series, where we take a closer look at the teams that make up the Massachusetts General Research Institute.
In this post, we are highlighting the Myhre Syndrome Clinic at Mass General Hospital, led by Angela Lin, MD and Mark Lindsay, MD, PhD!
What research do you perform?
Myhre syndrome is a distinctive ultra-rare genetic disorder first reported in 1981. People living with Myhre syndrome have medical, learning, and mental health issues that may progress over time.
The MGH Myhre Syndrome Clinic is the only program in the world where someone with Myhre syndrome of any age can receive coordinated medical care at one hospital. In addition to caring for people, we conduct research to understand these complicated problems, which involve nearly every organ system. In particular, the heart and arteries, skin, joints, bones, brain, and gastrointestinal system are affected.
We work on several different disorders, but most center around problems that affect the function of all sizes of arteries. So, we use various techniques. We use human genetics to look at artery function. We look at common variants, which are, as the word implies, common changes in the genome. We also examine rare arterial diseases that the gene changes are extremely rare, such as Myhre syndrome. In some conditions, we make animal models because they, at least for rare disorders, return better results.
Our research on a daily and monthly basis is looking at cellular models or animal models, or in silico models of vascular disease, and see if we can untangle the biology using those techniques.
The Myhre Syndrome Clinic is led by Angela Lin, MD, and Mark Lindsay, MD, PhD. Since joining Mass General, Dr. Lin has is dedicated her research to the care of people with physical differences, especially syndromes that involve the cardiovascular system. Dr. Lindsay specializes in Genetic Aortic Disease.
In the Lab
The Myhre Syndrome Clinic provides compassionate care with an expert multidisciplinary team. As a subspecialty program, we do not offer routine primary care. However, we provide a comprehensive evaluation, specific to the needs of people with Myhre syndrome. Our doctors work with the patient’s primary care provider to identify special needs and coordinate care and improve outcomes.
We understand the challenges people and families living with a rare disease experience each day. As a collaborative, multidisciplinary team serving people with Myhre syndrome of all ages and their families, we provide clinical care, education, and support. We are passionate about the importance of research to answer the questions that families ask us.
With over 35 lab members formulating a multidisciplinary team of medical, radiology, and psychosocial support, our program aims to provide state-of-the-art care for people of all ages and their families who live with Myhre syndrome.
What publications are you targeting in your ongoing research?
The research publications so far have been from clinical observations of patients with Myhre syndrome. We have a mouse model of the syndrome, and, we hope that in the next one to two years, we can start putting out scientific research on the problems we observe in that animal model and then some ways of trying to make that better, either through pharmacologic therapies or other kinds of therapeutics.
How does your research apply to everyday people's lives?
We study rare conditions because many rare conditions represent the most extreme form of disorders. For instance, in Myhre syndrome, we see restrictive cardiac physiology and arterial stiffening. That is a problem that faces everyone as we age. There is a large class of people where the type of heart failure is called heart failure with preserved ejection fraction. It is practically a plague among elderly individuals in the United States. We hope that when you examine these types of rare conditions or use medications to help them, you may get observations that could be useful for more common disorders that look like one of these early-onset conditions.
What is something you wish everyone knew about the research you perform?
Because this is a serious and progressive syndrome, patients, families, and providers seek a cure. It takes tremendous time, labor, and funding to achieve that goal, and both clinical and bench science are necessary.
Awareness of the condition is also important. We have found that genetic testing has been shifting towards younger and younger children, which has been good for diagnosing this condition. We think identification is important because we can, from a medical standpoint, try to intervene early in patients.
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