The Triple Threat to the Rare Disease Ecosystem — A Conversation with Dr. Wendy Chung
Sometimes you come across someone whose work changes the way you think about an entire field. That’s exactly what happened when I read about Dr. Wendy Chung in Rare Revolution Magazine.
Dr. Chung is one of those rare people who stands at the intersection of science, medicine, ethics, and humanity. She’s a clinical and molecular geneticist, the Chief of Pediatrics at Boston Children’s Hospital, and the Mary Ellen Avery Professor at Harvard Medical School. She leads NIH-funded research into the genetics of conditions like pulmonary hypertension, autism, birth defects, and a wide range of rare diseases. She’s advanced newborn screening for life-threatening disorders like spinal muscular atrophy and Duchenne muscular dystrophy — work that means the difference between life and death for many families. She’s been recognized with the Rare Impact Award from NORD, is a member of the National Academy of Medicine, and is a leading voice on the ethics of genomics.
But titles and accolades only tell part of her story. What stands out most is her deep commitment to the people behind the science, the families living day in and day out with conditions that most of the world has never heard of.
When we spoke, Dr. Chung described what she calls the “triple threat” to the rare disease ecosystem:
Misinformation in health that spreads faster than facts and erodes trust in science.
Lack of access to healthcare, leaving too many without the treatments they need, when they need them.
Insufficient investment in research, slowing the pace of discovery and delaying life-saving therapies.
Each of these challenges is daunting on its own, but together they create a fragile and often hostile environment for progress in rare disease research and care.
She pointed out that while most genetic conditions are rare individually, collectively they are surprisingly common — affecting millions worldwide. That’s a staggering thought, especially considering how little public awareness and funding rare diseases often receive.
We also talked about autism, a condition she has studied extensively. She emphasized that autism is a spectrum, with multiple causes, the majority of which are genetic. Understanding that complexity is crucial, not only for advancing science but also for helping families cope and make informed decisions.
One of the threads running through our conversation was the urgent need for better communication in science. In an age where misinformation spreads in seconds, the ability to convey facts clearly and accessibly isn’t just a nice skill — it’s a necessity. Miscommunication or confusion doesn’t just impact public opinion; it influences policy decisions, research funding, and the direction of healthcare itself.
Dr. Chung stressed that advocacy matters at every level — from the conversations parents have with their children’s doctors to the policies shaped in Washington. Community engagement isn’t just a feel-good idea; it’s one of the most effective ways to accelerate progress. Patients, families, scientists, and policymakers all have a role to play, and collaboration among them is where breakthroughs happen.
In the end, our conversation left me with two truths. First, that rare disease progress depends on persistence from so many people. The researchers who refuse to give up, from families who continue to fight for answers, and from advocates who push for change. Second, that truth itself is a kind of medicine. The more accurately, compassionately, and consistently we can communicate about rare diseases, the better chance we have at building a healthcare ecosystem that works for everyone.
Dr. Wendy Chung is leading that charge, not just in the lab, but in the public square. And in this fight, both matter equally.
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