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. 

Paula Goldenberg

Dr. Paula Goldenberg, Medical Geneticist at Massachusetts General Hospital and Assistant Professor, Harvard Medical School

Paula Goldenberg is a medical geneticist at Massachusetts General Hospital and Assistant Professor at Harvard Medical School. 

Goldenberg was inspired to go to medical school at the age of 41 by experiences she had from having a child with special needs. After finding nothing online about her son’s condition, she decided to build her own source for others to find. Between setting up the 22q11.1 Deletion Syndrome Clinic at Massachusetts General Hospital, and making use of social media, she’s reaching and empowering people affected by rare conditions, helping them to find better care and improve their quality of life globally.

You can check out the 22q11 Clinic Facebook page here

What are you working on right now?

I am working on developing my specialty clinics: 22q11deletion/chromosome 22 conditions, Stickler/Marshall syndrome, hearing loss, autism, and launching Phelan-McDermid and Smith-Magenis Syndrome clinics, as well as general and prenatal genetics.  I also organize and supervise our trainees (genetics fellows,  pediatric residents, medical students) and the quality and safety team for genetics.

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

I strongly wish to start to develop more outreach and research projects and am working on a book proposal for laypersons about 22q11 deletion syndrome, but with all of these commitments finding time and resources  is pretty challenging!  I try to do smaller projects that may not necessarily need grant support.  Our 22q11 clinic has a large social media presence on Twitter (@22q11Clinic) and Facebook (@MGH22q11.2Clinic).  I designed a REDCap survey approved by the IRB, administered entirely in social media, on how people get information about chromosome 22 conditions. We have nearly 200 respondents!

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

I would love to see wider acceptance of whole exome testing by insurance companies as this testing may reduce overall costs of testing in complex patients.  Of course clinical applications of CRISPR would be great but I think that will take longer than 18 months!  I am especially interested in CRISPR as a possible therapeutic approach for preventing retinal detachment in patients with Stickler and Marshall syndrome.

What are you most proud of in your career?

I started medical school at 41 years of age after doing a lot of “internet mom” research regarding my son with 22q11 deletion syndrome in the 1990s.  My previous career was as a psychiatric social worker doing child and family therapy and crisis work, which was pretty ideal for my patient population.  I’ve founded three clinics for 22q11 deletion syndrome so far, and all are still in operation!

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

Well, one person I would love to sit down to dinner with is Rosalind Franklin, to get her side of the story.   As far as fictional, a geneticist from the future would be terrific, to learn about clinical applications of CRISPR for example. 

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

Genetics is a rapidly changing field!   I did not know when I decided to go down this path (2005) that it would change so much!  When I started my genetics training microarrays and reflex testing were the norm, and the human genome project was still mapping the genome.  

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