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William Pavan retires after nearly 30 years of discovering gene functions and pathways

After a decorated career as a geneticist at NHGRI, he looks forward to more art and community work.

Before becoming a scientist, William Pavan, Ph.D., worked in construction and on a dairy farm. Growing up, he dreamed of becoming an inventor (and even came up with a few prototypes) but decided to pursue science to explore new ideas.

Thinking he wanted to become a veterinarian, Dr. Pavan studied animal sciences for his bachelor’s degree at the University of Massachusetts, Amherst. He later earned a Ph.D. at Johns Hopkins University School of Medicine, which sparked his interest in genetics and genomics. After completing a postdoctoral fellowship at Princeton University studying developmental genetics, he joined the National Center for Human Genome Research, now known as the National Human Genome Research Institute (NHGRI).

For nearly 30 years, Dr. Pavan led a research program as an investigator in the Genetic Disease Research Branch that focused on understanding genome function and gene pathways in development and disease. As head of the Genomics, Development and Disease Section within NHGRI’s Intramural Research Program, his group studied melanocytes, which are cells that give pigmentation to hair and skin, and a rare genetic condition called Niemann-Pick disease type C.

Dr. Pavan’s notable achievements include discovering a gene that is crucial for tissue and organ formation during development. The gene associated with melanoma, a type of skin cancer, and the genetic condition Waardenburg syndrome type 4. He also identified lysosomal transmembrane protein, NPC1, and found that variants of the gene results in Niemann-Pick disease type C.

In a conversation with science writer Sonja Soo, Ph.D., Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.

This interview was edited and condensed for clarity.

Soo: How did you first get into science?


Pavan: I started off not necessarily determined to go into science. I grew up in a working class family with a construction business. I went to college for animal science with the intent of becoming a veterinarian and worked on a dairy farm for a while.


I’ve always wanted to be an inventor. Science is kind of like inventing, so that fit more with my interests. I wound up getting a job in Manhattan in a research lab. My mentor there, Ruth Abramson, suggested that I might do well as a scientist, so she recommended me to look into graduate programs and suggested Johns Hopkins Medical School. I applied, got in and liked it so I stayed with it.

Soo: Did you encounter any challenges getting into the scientific field?


Pavan: I'm the first in my family to go to college so it was difficult to relate to people that have grown up either with scientists or clinicians as parents who were more accustomed to it. But my experience has helped me realize that there are other issues besides just the science that people are challenged with in order to feel like they fit in and feel supported. So that has helped me to mentor people from diverse backgrounds during my career.

Soo: What brought you to NIH?


Pavan: When I was doing my postdoctoral fellowship at Princeton University, I already had a family, so I didn't want to go for biotechnology companies because people moved around quite a bit. I knew I didn't want to go for a university job where I would have to write grants and teach on top of doing science. When NHGRI was forming and there was an opening, I saw it as a risk, but a great opportunity.


The institute brought together lots of great people that were really excited about doing basic science discovery in a highly interactive, collaborative, and supportive environment. I had high risk projects that were supported so I didn't have to worry about writing grants. I could really focus on training people and doing great science. As methodologies changed in the field, it was easy for us at the NIH to change and adapt our laboratories to take advantage of these new technologies and even help to develop them. That's one of the reasons why I stayed at NHGRI.

Soo: What are you most proud of as a researcher?


Pavan: I'm proud of them all. The biggest thing I'm proud of is choosing projects that always had a component that postdocs can take with them when they develop their own lab. The projects would fit in with my interests but would also set them up in a related field. For example, my lab studied the genetics of pigmentation, but often, these genes would affect many systems like brain development or gastroenterology. The postdocs that would study pigmentation of the neural crest in my lab could then study the other organ systems in their own labs. I’m proud that I was able to set so many people up to be successful in their own careers.

Soo: Were there any pivotal moments in your career?


Pavan: There were a few times where it was clear that I needed to change directions because the science was not progressing in the way that I thought was useful. It's scary because I had to stop some projects and redirect the lab into fields that were new to me. But with going into a new field, you bring a more open mindset and often, that’s how transformative discoveries are made.


We would identify a gene from a screen or from observing a trait in an animal model, and then we explored what that gene did. That would often take us into a system or field that we were not experts in, such as neuroscience, gastroenterology, cancer — and it was often intimidating. But we would jump in, keep doing genetics research, but also become experts the other biological field, which allowed us to make key discoveries. A key part of my career has always been identifying great collaborators to interact with and creating synergy between the laboratories to make some great discoveries.

Soo: What do you hope to see in the future of genomics?


Pavan: For me, I would like us to focus on not only discovering genomic variants but also understanding the functional consequences of those variants. We spend an enormous amount of time and money understanding the impact of the variants on the person with the disease. If we think about public health, I don't think we focus enough on all of the other people in the family and extended family that are impacted by the variants, which could have a much more profound impact on the overall health of the extended disease population in society.

Soo: What are you most looking forward to doing it once you retire?


Pavan: I'm an artistic woodworker and I’m part of a gallery here, so I'm going to continue my artwork. I've always had an artistic side, coming from a construction background. I like making bowls that have the bark still attached around them so you can see the tree that it came from, and it provides form.


I'm also a mediator. I do community-based mediation to help facilitate conversations between people or groups where there are power imbalances and give a voice for people who may not have as much power in the situation. I got into mediation unofficially at NHGRI, where I mediated difficult conversations between trainees and supervisors. I found an external community-based organization that tackles these important problems in situations such as schools, families, people coming out of prisons, racial differences, and so on. I plan on continuing this work and giving a voice in situations where people should be heard.

Soo: Do you have any advice for aspiring scientist?


Pavan: Identify challenges, take risks and seek advice from others. Keep reassessing if what you're doing is the best for yourself and for science. Take time to develop the managerial skills to help you be successful at the business side of science.

Last updated: October 24, 2023