Can you share a bit of your background?
I was born and grew up in the Bay Area and then continued my education in Southern California. I knew science what I wanted to do ever since I got a taste of it during my high school science fair project. I did my undergraduate work at Caltech in Pasadena in electrical and computer engineering and then switched gears and attended medical school at the David Geffen School of Medicine at UCLA. I then completed a combined pediatrics and medical genetics residency at UCLA. Following that I went to the NIH for 4 years to complete a medical biochemical genetics fellowship and then continued on with additional work in clinical research. My research focus at NIH was in congenital disorders of glycosylation, where I, with an amazing team, built the NIH natural history protocol for CDGs. I then moved out to Seattle for a faculty position that really supported me in my pursuit of focusing on taking care of individuals with inborn errors of metabolism as well as clinical research in CDGs and NGLY1-CDDG.
Why did you decide to get into research?
I love the process of figuring something out, and the thrill of learning “the truth” about something first, especially if this truth is truly novel information that can be helpful to improve the quality of life, is exciting.
Why did you choose NGLY1?
I had come to the NIH with the thought of studying CDGs, because I had learned that this group of disorders are quite novel, and there was a lack of clinical expertise in the USA so I thought if I could learn from the experts at NIH about CDGs, I could really contribute and provide a useful service to a group of individuals who were underserved. As I began my work within CDGs, NGLY1-CDDG had just emerged as a novel disease – the first N-linked deglycosylation disorder. As a result, it was quite natural to delve into NGLY1-CDDG as part of the natural history protocol. As I began to work with the families, I fell in love with the children, who were incredibly affectionate, as well as the families, who were each exceptional in their unique way and one of the most motivated groups I have ever met.
What do you hope will come out of your research?
A better understanding of the natural history of the disorder contributing to understanding the underlying pathophysiology. In the future, I also hope to be involved in treatment trials to determine efficacy of targeted therapeutics.
What excites you about the work you are doing in research? NGLY1?
The incredible group of individuals and community involved with NGLY1 research really has brought so much new knowledge into the world in such a short time. At every meeting I learn something new and it invigorates me. With the pace of progress, I really feel optimistic that there will be some sort of therapeutic in the future, and this excites me. I feel honored to be able to contribute to even a small part of the puzzle, when working with such an amazing team.