PASPCR Pigment Research

Trainee's Spotlight

HMatthewBerns Picture

Meet H. Matthew Berns- a trainee in Bill Pavan's laboratory at the NIH.

1. What inspired you to be a scientist?

My parents had a mission to take their kids to all 50 states by the time my eldest sister graduated high school. We fell just short, achieving 46 as a family. Watching the evolving landscapes from the window of our van sparked my daydreams and imagination, constantly wondering how the topography came to be. My more focused interest of making science into a career began in high school. A close friend was diagnosed with Ehlers-Danlos Syndrome (EDS), a rare genetic disease with a broad array of phenotypes with a common feature being tissue hyper-elasticity. A diagnosis did little to solve the problem. The reality is that the genetics underlying the condition are highly complex. I wanted to find the cause and identify a solution; thus, I became interested in human biology, and more specifically, rare genetic diseases.

2. What field of science do you specialize in, and what got you excited to do your research in this field?

As a post-baccalaureate researcher in the lab of Dr. Jim Wells, at Cincinnati Children’s Hospital Medical Center, I studied the neural crest in the context of enteric nervous system formation of the murine and human foregut. I became fascinated with the so-called “4th germ layer”. Terminal derivates of the neural crest lead to an array of diverse cell types - including cartilage, bone, neurons, glia, chromaffin cells of the adrenal medulla, and of course, melanocytes. That experience and interest led me to where I am now, as a research fellow in the National Institutes of Health (NIH) Medical Research Scholars Program studying the genetics of pigmentation and its diseases in the lab of Dr. Bill Pavan. I am beyond excited to continue my research at the NIH and begin a new collaboration with Dr. Pedro Moura Alves (and Dr. Colin Goding) at the University of Oxford as a graduate student in the NIH Oxford-Cambridge Scholars Program.

3. Can you briefly describe your research?

My work is centered around interrogating pigmentation and pleiotropic effects of Mfsd12 loss-of-function (LOF) in mice and combining this information with Next Generation Sequencing (NGS) datasets toward elucidating novel genes and pathways regulating murine melanogenesis. MFSD12 encodes a transmembrane transporter with sequence variants associated with pigmentation differences across human populations. Evidence in our lab indicates that MFSD12 plays a role in a multitude of systems with implications for an array of human disease. Although the paracrine controls regulating pigment production downstream of the Melanocortin 1 Receptor (MC1R) are well established, there is still much to learn about how whole scale changes of gene expression are governed and intersect with MFSD12 function. Understanding these pathways in more detail will yield invaluable information towards the design of pharmaceutical interventions in treating a host of dermatological conditions, including melanoma.

4. What was one of the most exciting results or finding that you got in your work?

Interestingly, LOF mutation in Mfsd12 results in strain dependent perinatal lethality. In contrast, viable mutants appear grossly normal except for the loss of pheomelanin, which in agouti mice results in a gray coat color. My aim is to understand the cause(s) of lethality. We are investigating if delayed parturition improves viability. If so, this would suggest that Mfsd12 is novel player governing perinatal survival. 

5. What do you think will be the next big breakthrough in your field of work?

I hope to see advances in precision medicine via gene-therapy and/or pharmaceutical interventions. Vemurafenib came on the scene in 2011 and has greatly increased survival rates in melanoma patients with V600E BRAF mutations, but it is by no means a “silver bullet”. Importantly, Vemurafenib is only efficacious in 60% of melanoma cases, including many who ultimately develop resistance to treatment. Advances in NGS, gene editing (e.g. CRISPR/Cas-9) and “omics” as a whole, will be instrumental in developing additional and complementary treatment options. Collectively these technologies will be instrumental across broad scopes of biomedical research and will revolutionize treatment across a multitude of human diseases.

6. What motivated you to join PASPCR society/ what are your thoughts on PASPCR society?

I was highly encouraged to join PASPCR by my mentor Dr. Bill Pavan. He is very supportive of my career and aspirations. Scientific meetings have always been an invaluable tool for me to discuss and think through my work. Unfortunately, the COVID-19 pandemic has complicated many aspects of our lives, including our work and communication as scientists. I am hoping a sense of normalcy will return by the fall so that I can attend my first PASPCR meeting in Lexington, KY in September.

7. What advice would you give to aspiring students who want to work in pigment cell and melanoma research?

Mentorship is key to many career fields and that is no exception in the sciences. I do not believe that I would be where I am today without high quality mentorship from a multitude of PIs, staff scientists, post-docs, and graduate students. Finding a lab and PI that fits your personality is important. If you’re in a happy place that will lead to productive science. If you find someone you are interested in working with, reach out to them. Often a PI will be flattered by your interest and find you a fit whether it be in their lab or with someone else in the pigment cell and melanoma community.

H. Matthew Berns, BS

Research Fellow, Medical Research Scholars Program

National Human Genome Research Institute

National Institutes of Health