At Children’s Hospital of Philadelphia, we believe diversity drives breakthroughs. Our investigators come from a multitude of academic backgrounds and life experiences to form a rich research community that thrives on collaboration. In 2016, CHOP launched the Postdoctoral Research Fellowship for Academic Diversity in partnership with the University of Pennsylvania to enhance the recruitment of postdoctoral fellows from diverse populations. This year, three new CHOP diversity fellows began the program, each contributing their own unique experiences to various fields of pediatric study. In this Cornerstone Q&A series, we asked the new fellows what diversity in research means to them and what they hope to achieve while at CHOP.
Our first fellow, Michael Gonzalez, PhD, began his research career on the West Coast before joining the lab of Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at CHOP. With a self-described “hodge-podge” of experience in the life sciences that melds rheumatology, genomics, and forensics, Dr. Gonzales looks forward to uncovering the genetic underpinnings of complex children’s health conditions, including amplified pain syndromes (AMPS) and neuropsychiatric disorders associated with streptococcal infections.
Could you describe your background and what compelled you to apply for the Postdoctoral Research Fellowship for Academic Diversity?
I was born and raised in sunny Southern California, with the entirety of my education being completed on the West Coast. My education included individual stops at UC Riverside, Fresno State, and Washington State University. In a word, my academic background can be described as “diverse.” I’m a medical biologist turned forensic scientist turned quantitative geneticist. Despite this veritable hodgepodge of biological tracks, a unifying theme of my research/educational endeavors has been (and remains) application to real-world problems. In large part, that is what initially attracted me to the research going on at CHOP under Dr. Hakonarson and the Postdoctoral Research Fellowship for Academic Diversity.
What does “diversity” in research and science mean to you?
Diversity is extremely important any time you are working with a group of people. Science has become increasingly collaborative, and the importance of different perspectives and unique ways of approaching problems has come to the forefront. When I think of diversity, this is what immediately comes to mind, especially in the sciences. Having people from different backgrounds, skill sets, ways of thinking all working together to tackle a common scientific problem only serves to make science stronger.
What are some research projects that you’re excited about?
I have many projects that I am very excited about. All of them, at some level, involve the identification and elucidation of the genetics underpinning complex disorders in children. I have individual projects investigating AMPS, pediatric neuropsychiatric disorders, and juvenile myositis, among many others.
To briefly mention a few ongoing projects a bit more in detail, AMPS are a group of related disorders involving chronic pain that present a substantial economic burden, as well as having a significant impact on the patients’ quality of life. Though characterized over 150 years ago, very little is known of the biological mechanisms that result in the development of these disorders. We are using a genome-wide based approach to identify genetic loci involved in the development of these disorders. This allows the discovery of novel genes and pathways that we wouldn’t have considered previously. We can then use this new knowledge to inform current treatments and even develop better therapeutics for these disorders.
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) is an autoimmune based disorder affecting the central nervous system that manifests as sudden onset psychiatric symptoms (obsessive compulsive disorder, anxiety, etc.) after infection with Streptococcus pyogenes (think strep throat). Although repeated S. pyogenes infection has been known to be a trigger for the development of this disorder, it is unknown what predisposes particular children to develop these symptoms. Since virtually all school age children are exposed to S. pyogenes and only a small subset develop these symptoms, it strongly argues for host risk factors (genetics) playing a role in the development of PANDAS. We are taking a whole-exome (the sequence of all protein coding genes in the genome) approach to identify rare mutations that may predispose to the development of this disorder.
These are just a few of the projects that I am excited about. But one of the best things about working at the Center for Applied Genomics is that the opportunities are endless as far as contributing to research related to an extremely wide array of childhood disorders.
What inspired you to focus on the intersection between genomics and rheumatology?
I think disorders under the rheumatology umbrella, including disorders with an autoimmune based component, have been historically underserved. This is due in large part to the complexity of these disorders and the evolving understanding of autoimmunity and rheumatology. This complexity and relative sparsity of data makes these disorders an enticing target to investigate and what drew me to the intersection of genomics and rheumatology.