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Welcome to The Short Read, our weekly peek behind the curtain at the people who make this amazing community tick. Make sure to check back every Tuesday for the latest installment.

Dr. Angela Lin

Angela E. Lin, MD – Medical Geneticist, Mass General Hospital for Children; Professor of Pediatrics, Harvard Medical School

Angela E. Lin is a Medical Geneticist at Mass General Hospital for Children and is also working as part-time Professor of Paediatrics at Harvard Medical School. Lin runs three clinics, one is for an ultra-rare disorder called Myhre Syndrome. Her interest in this rare condition began 10 years ago when her senior colleague asked her to review an undiagnosed patient. Lin was deeply curious, not from an intellectual point of view, but from the particular family’s experience with the pericardial disease that led to their child’s death. Lin thought about the child often, and after the diagnosis was established she became more or less obsessed (as most researchers do), by this fascinating disorder; not only to describe the features of the condition but to seek treatment. 

 

What are you working on right now?

Three specialty clinics at Mass General which provide care for people of all ages with rare syndromes: Turner Syndrome, Hereditary Hemorrhagic Telangiectasias, and most recently Myhre Syndrome, an ultra-rare disorder which causes developmental delays, short stature, distinctive facial appearance and cardiovascular anomalies, hearing loss, and several other features. This is the first  Myhre clinic in the United States!    

What’s the biggest challenge you face in your work at the moment?

Time and money, money and time! I rely on philanthropy to support these clinics. I’m incredibly grateful for donations of all sizes, in particular, the major donor whose generosity allows me to hire a research assistant for the Turner Syndrome clinic. Together with patients’ families, we are seeking additional funds to hire coordinators for the other two clinics. We’d be able to see more patients, more efficiently, and conduct research studies.

Name one big development that you would like to see in your field the next 18 months.

Less expensive Whole Exome Sequencing. This technology continues to be a huge benefit in diagnosing the patients without a known diagnosis, in general. And it will help detect those with Myhre syndrome, in particular. Rather than targeted gene analysis, WES is increasingly successful in making that diagnosis

What are you most proud of in your career?

Two things: first, having developed these clinics at the Mass General Hospital for Children alongside wonderful paediatric, adult medicine and surgical colleagues. Also, becoming partners with the people and families who live with these disorders, learning from them, and planning tremendous support group meetings. We host a Turner Syndrome meeting twice a year in Boston.  The next one is coming up on June 24, 2017.

Which scientists, living, dead, or fictional, would you invite to dinner, and why?

The geneticists I admire most are those that I already dine with each summer at the annual David W. Smith Workshop on Malformations. These men and women are personable and brilliant dinner guests – in shorts and tee shirts!   Missing from the group is the man who inspired them, David Smith himself. He was an extraordinary geneticist, and is the “Smith” behind Smith-Magenis and Smith-Lemli-Opitz syndromes, among many other accomplishments. I’m sure he’d love to see what his protégés and their mentees have achieved.

What advice do you wish someone had given you at the start of your career?

Having a mentor is really important. We tend to stumble into this role, both as a learner and mentor, so it helps when the process is more deliberate, although people may have several relationships like this over their career lifetime.  Also, it’s really valuable to pick a few areas of interest as your focus. Had someone told me this as a fellow, I may have resisted the advice because the tendency is to want to learn everything. But as I care for my patients with Turner Syndrome, my original interest in their aorta – people with Turner Syndrome often have heart abnormalities –has expanded to include neuropsychology, skin, cancer and above all, their transition to adulthood and quality of life. Genetics just keeps getting better!


 

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Opinions and views expressed in The Short Read are the interviewee’s and not those of the home institution