Meet Dr. Robert Desnick, Porphyria Expert
The porphyria community is lucky to be supported by dedicated physicians, researchers and advocates who work tirelessly to improve care and develop new treatments for porphyria. The United Porphyrias Association is pleased to introduce you to some of them!
"The Porphyrias Consortium allowed us to train the next generation of porphyria experts. We’ve worked so well together to carry out basic and clinical research, including multiple clinical treatment trials, that we wanted to continue our excellent collaborations and research."
-Robert Desnick, MD, PhD
Tell us a bit about yourself and your connection to porphyria.
My name is Robert Desnick and I’m an MD PhD medical geneticist at the Icahn School of Medicine at Mount Sinai in New York City. My research focuses on inherited metabolic diseases, particularly their prevention, early diagnosis and treatment. I've developed diagnostics and therapeutics for several different diseases, including the porphyrias and the drugs our group developed are FDA-approved and available worldwide.
I am the Principal Investigator (PI) of the NIH-supported Porphyrias Consortium and the President of the American Porphyria Expert Collaborative (APEX). I am currently a Professor of Genetics and Genomic Sciences, the Dean of Genetic and Genomic Medicine Emeritus, and the Inaugural Chair of the Department of Genetics, Genetics and Genomic Sciences at Mount Sinai, where I've been since 1977.
How did you first become interested in studying and treating porphyria?
When I was an Assistant Professor at the University of Minnesota Medical School in the mid 1970’s, a brilliant undergraduate student asked if he could do a research project in my lab on the porphyrias.
Minnesota has a large population with Scandinavian ancestry (that has a high prevalence of Acute Intermittent Porphyria) and the University was a center for porphyria. The former Chair of Medicine had coauthored the study in 1971 describing the first treatment of acute porphyria attacks with heme isolated from red blood cells. He was very supportive and provided us with purified porphyrin compounds which facilitated our basic research on the in the heme biosynthetic enzymes.
How has your work contributed to our understanding of porphyria and potential treatments?
Our research characterized several of the enzymes in the heme biosynthetic pathway, and using early DNA technology, we isolated and characterized several porphyria-causing genes and identified the genetic alterations in patients from different families that caused their respective porphyrias.
We also generated animal models of acute intermittent porphyria (AIP) and congenital erythropoietic porphyria (CEP), which are important to the preclinical development of therapeutics. For example, such models were used by Makiko Yasuda, MD, PhD in our lab for studies that ultimately led to the development of givosiran for the treatment of the acute hepatic porphyrias.
Additionally, our lab provided DNA diagnostics for affected patients with all the porphyrias. We also identified the asymptomatic gene carriers that could develop the acute hepatic porphyrias as well as the carriers for the erythropoietic porphyrias (EPP, XLP, CEP).
Our lab also recognized the early symptoms (a prodrome) that patients with erythropoietic porphyrias experience as a warning signal to get out of the sun to avoid the subsequent sun-induced excruciating pain attacks. This prodrome signal (Time to prodrome) has been used as an endpoint in clinical trials for the protoporphyrias.
Can you share any recent porphyria-related findings that you are excited about?
We recently published in the journal Science, with Eric Lai at Sloan Kettering and Makiko Yasuda at Mount Sinai, an important research article about RNA silencing and its effect on microRNAs. These studies led us to suggest that givosiran might improve the effectiveness of RNA silencing treatments for other disorders.
You are the President of the American Porphyria Expert Collaborative (APEX). Can you tell us more about APEX- who is involved and what are its aims?
In 2009, I brought together six senior American porphyria experts to submit a grant application to the National Institutes of Health to join the Rare Disease Clinical Research Network to facilitate basic and clinical research on the porphyrias. Our application was successful, and the Porphyrias Consortium (PC) was established. The PC allowed us to train the next generation of porphyria experts and open seven additional satellite sites to provide expertise for patients in other US geographical locations. We’ve worked so well together to carry out basic and clinical research, including multiple clinical treatment trials, that we wanted to continue our excellent collaborations and research.
Our NIH grant for the PC is sunsetting July 1, 2025, so we established the American Porphyrias Expert Collaborative (APEX), as a nonprofit 501(C)(3) to continue the PC. Thus, the six original and seven active satellite sites of the PC will continue to operate, foster research, and provide expertise and training in the porphyrias.
How does APEX work with the UPA and patients?
Our MD and PhD experts are on the UPA Scientific Advisory Board, and I serve on the UPA Board of Directors. UPA refers complex patient medical cases to our experts. We either see or consult with these patients and their physicians to help guide their diagnosis and treatment.
APEX and UPA work together in many other ways. For example, together we organize the biennial International Porphyrias Symposium (IPS). The Symposium brings the latest diagnosis and treatment advances to the medical community and UPA shares these with the patient community at the IPS Patient Day. Our next Symposium will be held in October 9-12, 2025, in Arlington, VA.
What are important steps that can be taken to raise awareness about porphyria and support further research efforts?
We need to support the best clinical research to develop new treatments in our labs and with our pharmaceutical partners. Research grants can help foster young investigators and encourage serious research. APEX currently has a call for applications for a large, international prize for research on heme biosynthesis and the porphyrias.
Another important advocacy focus is to educate emergency room physicians about the diagnosis and treatment of porphyria patients.
Meet more of the experts and advocates changing the world for porphyria
Meet more of the porphyria experts and advocates changing the world for porphyria
