Inside AJHG: A Chat with Susan Slaugenhaupt

Posted By: Sarah Ratzel, PhD, Science Editor, AJHG 

Each month, the editors of The American Journal of Human Genetics interview an author(s) of a recently published paper. This month, we check in with Sue Slaugenhaupt to discuss her paper, “ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia”.

20190423_Slaughenhaupt-Lab
Slaugenhaupt Lab (photo courtesy of Dr. Slaugenhaupt)

AJHG: What caused you to start working on this project? 

Sue: When I arrived at Massachusetts General Hospital as a postdoctoral fellow in 1991, one of the projects in Jim Gusella’s lab was focused on mapping the gene for familial dysautonomia (FD). Given my background in gene mapping, I became involved in the project and once we mapped the gene, I took over the project aimed at identifying the mutation. Once we cloned the gene and discovered that it was a mRNA splicing defect, I became fascinated by the idea of modifying splicing as a route to therapy, and my lab has worked on this ever since. I have known many FD patients and their families for over 25 years, and our work is driven by the desire to develop a disease modifying therapy for this devastating disease.

AJHG: What about this paper most excites you? 

Sue: Developing a mouse model for FD was a huge challenge since the disease is caused by a tissue-specific reduction of ELP1 protein. In 2016, we succeeded in generating a phenotypic mouse model and this paper describes the first trial of a potential therapy in our mouse. I am very excited that our treatment was able to increase the amount of ELP1 protein in the peripheral nervous system and, most importantly, rescue two of the most debilitating aspects of the disease, gait ataxia and kyphosis.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Sue: There are many efforts underway to generate therapies that target mRNA splicing, including small molecules, antisense oligonucleotides, and exon-specific U1 snRNAs. A significant fraction of human genetic disease mutations impact mRNA splicing, so this is an exciting time. These therapies are targeted at the molecular mechanism of disease, not at symptoms, and we are likely to see new treatments for many previously untreatable genetic diseases over the next several years.

AJHG: What advice do you have for trainees/young scientists?

Sue: Find a good mentor. One who cares more about your future and your career than their own. Look outside your own lab, and fight against the tide that keeps you locked in an unproductive situation too long.

AJHG: And for fun, tell us something about your life outside of the lab.

Sue: I’m moving to a condo overlooking the beach next month and I can’t wait!

Susan Slaugenhaupt, PhD, is Scientific Director, Center for Genomic Medicine at Mass General Hospital Research Institute and Professor of Neurology at Harvard Medical School. She is a member of ASHG’s Board of Directors.

 

Congrats to the 2017 DNA Day Essay Contest Winners!

Posted by: Kanika Pulliam, PhD, and Evelyn Mantegani, BA, ASHG Education Department

Happy DNA Day! Every April 25, we commemorate the completion of the Human Genome Project in 2003 and discovery of the double helix of DNA in 1953. ASHG marks this date each year by announcing the winners of our Annual DNA Day Essay Contest.

Open to high school students worldwide, the contest asks students to examine, question, and reflect on important concepts in genetics. This year’s theme was gene therapy. Students were asked to choose one modern example of gene therapy (since 2005), describe the disease or condition researchers are attempting to treat, and explain how the therapy or approach might repair the underlying cause of the disease or condition.

We received over 1100 essays from 38 U.S. states and 21 non-U.S. countries. Essays went through three rounds of scoring by ASHG members, who selected a first, second, and third place winner as well as 11 honorable mentions. ASHG will award monetary prizes to winning students as well as grants for genetics laboratory equipment to eligible teachers.

“This year’s essays continue the tradition of high-quality submissions…that we have seen for the past 12 years, and their enthusiasm for the science reflects the excitement that our members feel about their work,” said Joseph D. McInerney, MS, Executive Vice President of ASHG, in a press release.

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Adele Peng, a freshman at Thomas Jefferson High School for Science and Technology in Alexandria, Virginia, received first place for her essay on using zinc finger nucleases to immunize against HIV. Sophia Spiegel, a junior at Bergen County Academies in Hackensack, New Jersey, received second place for her essay on using recombinant adeno-associated virus vectors to treat Leber’s Congenital Amaurosis. And Alvin Ya, a senior at Poolesville High School in Poolesville, Maryland, received third place for his essay on potential uses of CRISPR to treat muscular dystrophy.

For a full list of winners and honorable mentions, teachers, and excerpts from winning essays, check out the DNA Day 2017 Winners. Through this contest and our other K-12 initiatives, we hope to encourage young people to explore genetics and inspire the next generation of ASHG members and leaders.

Kanika Pulliam, PhD, Educational Programs Manager at ASHG, and Evelyn Mantegani, BA, Educational Programs Assistant, organized the DNA Day Essay Contest for high school students. Learn more about ASHG’s efforts in K-12 education.