From Gene Discovery to Patient Impact: A Conversation with Susan A. Slaugenhaupt, PhD
What inspires a scientist to dedicate more than three decades to the study of rare genetic diseases?
In this Q&A, Susan A. Slaugenhaupt, PhD, an investigator in the Center for Genomic Medicine and the Department of Neurology at Mass General Brigham and current president of the American Society of Human Genetics (ASHG), reflects on her unexpected journey into genetics research, the discoveries that have shaped her career and the patients and families who motivate and inspire her work.
What inspired you to pursue a career in genetics and human genetics research?
Slaugenhaupt: My path into genetics was a bit of serendipity.
I went to college in Florida planning to study marine biology, but after taking my first genetics class, I was hooked. I knew I loved genetics and was excited about the potential of using newly discovered DNA markers to map human disease genes.
That passion led me straight to graduate school to pursue my PhD. My path was truly set when I joined the laboratory of Aravinda Chakravarti, PhD, at the University of Pittsburgh, where I became deeply involved in human genetics research.
Can you talk about your research and some of the key findings that have been most meaningful to you?
Slaugenhaupt: My work has focused on two rare neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), both inherited diseases that affect the nervous system and can cause significant developmental and physical challenges, as well as the common cardiac disorder mitral valve prolapse.
Celebrating in New York after the discovery of the FD gene.
My work on FD and MLIV has been especially meaningful because I have worked closely with family organizations and know many of the patients and families personally. Identifying the genes that cause FD and MLIV first allowed families to use this information to have healthy children and later led to population screening.
I will never forget a conversation with an FD mother at a family gathering. I was lamenting the fact that, despite knowing the gene responsible for the disease, we still had not developed a cure. She looked around the room and said, "Do you see all of these healthy children? They are here because of your work." That moment had a profound impact on me.
Together with Yulia Grischuk, PhD, another investigator at Mass General Brigham, we advanced a new gene therapy for MLIV through preclinical studies. Patricia Musolino, MD, PhD, and colleagues at MGB and UMass are now helping move it into the clinic.
In my own lab, in collaboration with Elisabetta Morini, PhD, we are advancing a small-molecule therapy that directly targets the mutation that causes FD.
We are completing the final studies and hope to submit an Investigational New Drug (IND) application, a request to the U.S. Food and Drug Administration (FDA) for permission to begin testing it in FD patients. Seeing these treatments finally reach patients after more than 30 years of work would be the greatest reward of my career.
What changes have you seen in the field of human genetics and genomics research over the years?
Slaugenhaupt: I entered the field before the human genome was sequenced, so I "grew up" using what now seem like archaic techniques to build maps of human chromosomes and identify disease genes.
I came to Massachusetts General Hospital (MGH) as a postdoctoral fellow to work with Jim Gusella, PhD, in 1991. After we mapped the gene for familial dysautonomia to chromosome 9q31, it took us seven years to identify the mutation that causes the disease.
With the human genome sequence now available, the same process could be accomplished in just a few months.
What are your goals and priorities as president of the American Society of Human Genetics?
Slaugenhaupt: ASHG is the largest community of human genetics and genomics professionals and serves as a connector for the full spectrum of professionals transforming genomic discoveries into real world impact. It envisions a future in which people everywhere can realize the benefits of human genetics and genomics research.
This is an exciting and important time for science, with new discoveries continuing to transform our understanding of human health and disease. At the same time, the past 18 months have presented significant challenges for science in the United States, and those challenges are unlikely to disappear anytime soon.
ASHG does outstanding advocacy work, and I believe every scientist has a role to play in communicating the ways that science helps to improve human health. I hope to help increase awareness of the importance of sharing science not only with colleagues, but with the broader public.
The ASHG 2026 Annual Meeting takes place in Montreal from Oct. 20-24. My presidential symposium, Communicating Science in an Uncertain World: Evidence, Storytelling, and Public Trust, will explore the barriers to meaningful public engagement and what scientists can do to bridge those gaps.
At the end of the day, everyone wants a healthier future, and human genetics and genomics research can help us achieve that goal. It's time for all scientists to communicate the impact of their work in ways that people can understand.
Where do you see your research, and the broader field of genetics, headed in the next 10 years?
Slaugenhaupt: For my own research, I hope that within the next decade all FD patients will have access to a drug that slows or even stops disease progression, and that all patients with MLIV will have access to gene therapy.
More broadly, I expect to see many more treatments developed for people with genetic diseases, along with a growing focus on disease prevention through individualized genomic data.
Why do you think collaboration is so important in advancing genetics research today?
Slaugenhaupt: In 2023, ASHG celebrated its 75th anniversary and launched the "One Humanity, Many Genomes" campaign to honor diversity in genomic science.
If we truly hope to realize the promise of human genetics and genomics, we must collaborate on a global scale. All populations must be included in research, and everyone should benefit from the outcomes of that research. Human genetics and genomics are global endeavors by default.
What excites you most about the future of human genetics research?
Slaugenhaupt: There are too many possibilities to name.
Advances in noninvasive fetal sequencing, the ability to edit the genome to treat disease, the use of polygenic risk scores to predict disease risk, and the eventual realization of precision medicine guided by an individual's genome sequence are just a few of the developments that excite me most.
What’s one fun fact about you that not many people know?
Slaugenhaupt: I was a Girl Scout throughout high school and later became a Girl Scout leader. I got involved because it gave me opportunities to go hiking, camping, rappelling, and spelunking.
Emily (Dr. Slaugenhaupt's daughter) and her at the summit of Mount Monadnock during a Girl Scout hiking trip.
In the mid-1970s, when I was about 13 years old, I was one of four girls allowed to head into the Wyoming wilderness on our own for four days.
I still remember the laughter, the tears, the frustration, and the fear, but we made it through. I later became a leader because I wanted to give young girls the same opportunities for adventure.
I used to joke that I tolerated crafts only because the girls were too young to camp. As soon as they were old enough, I had them in the woods lighting fires and catching frogs.
Nothing makes you stronger than finding yourself in the middle of nowhere during a flooding thunderstorm with a river running through your tent or overcoming the fear of backing over a cliff and trusting the ropes to hold you.
Nothing is more empowering than teaching girls that they are self-sufficient.
Bonus questions!
If You Could Have One Superpower, What Would It Be?
Today, I think it would be the ability to make everyone tell the truth.
What Advice Would You Give Your Younger Self as an Aspiring Scientist?
I say it to young people all the time. Nine-tenths of success in this field comes down to work ethic and perseverance. Keep going. You can do it.