Former NIH Researcher Who Studied Rare Diseases Now Battles One
For three decades, William “Bill” Pavan, PhD, worked at the National Institutes of Health (NIH), studying the genetics behind rare diseases. Today, he’s battling one.
In 2021 when he was 58, Dr. Pavan was diagnosed with myelodysplastic syndrome (MDS) with refractory anemia with ring sideroblasts associated with thrombocytosis (RARSt), a rare form of a rare group of blood disorders characterized by blood cells that don’t mature properly. His condition was complicated by a subsequent diagnosis of myelofibrosis, a kind of bone marrow cancer.
Many people are living with cancer today because of drugs and procedures that were made possible through decades of NIH support endorsed by both political parties. We need to continue the pipeline of new cancer drugs and new interventions.
“This led to me being a candidate for a stem cell transplant,” Dr. Pavan said.
His medical journey interrupted a long and rewarding career at NIH, where he ran a large laboratory, unraveling the genetic basis of diseases, studying disease mechanisms, and exploring interventions and treatments. He retired in 2023 to focus on his treatment and recovery.
As a patient, he has experienced the benefits of NIH-supported research. The agency has dedicated programs to stem cell research, which have helped to expand bone marrow transplant as a treatment option for patients. Thanks to the development of new chemotherapy drugs and immunosuppressants, a perfect donor match is no longer necessary.
“My treatment used a relatively new approach that uses stem cells obtained from my [adult] son, who is only a 50% match for the 10 major antigens,” Dr. Pavan said of his transplant, which was performed at the Johns Hopkins Kimmel Cancer Center in Baltimore, Maryland.
As both a patient and former NIH researcher, Dr. Pavan said he is alarmed by the mass layoffs, withholding of research funds, and threatened cuts at NIH.
“It scares me, it devastates me, it makes me angry sometimes,” Dr. Pavan said of the actions. “Many people are living with cancer today because of drugs and procedures that were made possible through decades of NIH support endorsed by both political parties. We need to continue the pipeline of new cancer drugs and new interventions.”
Any disruptions to research funds will have lasting impacts, even if the money is restored, Dr. Pavan said: “It’s not just turning off and on a switch.” When funding for research is stopped, samples may have to be destroyed, researchers may look for opportunities elsewhere, and the quest for new treatments is, at a minimum, stalled.
In cancer treatments, there is something known as the “lily pad strategy,” he said, which underscores the importance of robust and continuous research into new drugs and treatments.
“For many people living with cancer, they’re on a drug that’s keeping their cancer in check,” he said. “And it may only work for six months, or it may only work for a year, but the doctor says not to worry because there’s another drug in the pipeline that will be there when this drug no longer works. And they call it a lily pad approach, where they jump from lily pad to lily pad as they manage their diseases — and they can live a longer life because of it. These people are scared to death because this pipeline is disrupted.”