Meet our Core Staff: Catherine Brownstein, MPH, PhD
How long have you been a member of the IDDRC? Which organization and department do you work for?
I am the Assistant Director of the IDDRC Molecular Genetics Core Facility (MGCF) at Boston Children’s Hospital, and an Assistant Professor at Harvard Medical School. I’ve been in the Division of Genetics and Genomics at BCH for almost 11 years now.
What is your main research focus?
In addition to my work at the Molecular Genetics Core Facility, I am the Associate Director of the Early Psychosis Investigation (EPI) Center, and the Scientific Director of the Manton Center for Orphan Disease Research Gene Discovery Core. Within these roles, I focus on gene discovery for several severe genetic disorders including very early onset psychosis, intellectual disability, autism spectrum disorder, and hypophosphatemic rickets. Recently, my work has focused on uncovering undiagnosed genetic syndromes affecting women’s health, and identifying barriers to accessing genetic medicine in underrepresented groups.
What led you to pursue research career and/or interest in IDD?
I originally came to BCH as a project manager, where I was tasked with managing the sequencing projects for researchers. This was back when exomes were extremely expensive and difficult to get. I worked with investigators to get their cohorts sequenced and analyzed. Some of the projects turned into long-term collaborations. Originally, I was actually quite indifferent as to which phenotype I worked on. However, the work on IDD was so exciting and meaningful, I knew I had found the right area for me to focus on.
Any comments on the services of a core/or particular equipment that advances your current research?
I take pride in bringing new and exciting technologies and instruments to IDDRC researchers. Since I began working at the MGCF in 2015, we have gotten several new machines, inclucing a ddPCR system, new qPCR machines, Hamilton Microlab STARLet Automated Workstation, Affymetrix Gene Chip Scanner 3000 with Autoloader, the Nanostring n-counter system, a 10X Chromium controller, and a Bionano Saphyr Optical Genome Mapping system.
We are very excited about the new Nanostring GeoMX system that is being launched this month!
Personally, I use the MGCF’s Sanger services, NGS, Bionano, and many QC offerings (like the Bionanalyzer and Nandrop). I love our full-service Sanger sequencing– I just give the coordinates and the DNA and the team does the rest! I’m designing my first GeoMX project right now. Interestingly, this project used a few of the IDDRC cores- the Stem Cell Core has the patient’s ipsc line, the Genome Manipulation Core designed the mouse model of the patient, the Phenotyping core ran behavioral testing, and now I’m going to look at gene expression using the GeoMX at the MGCF.
Are you interested in collaborating or offering any collaborative opportunities? If yes explain briefly.
Yes for sure! Collaboration is key to success. We have actually shown that diversity improves quality when it comes to genetics and genomics research. Harvard Medical School and the Manton Center for Orphan Disease Research ran a couple competitions (called CLARITY) to try and advance the field of genome sequencing. The most striking thing was that the diverse teams did much better in the competitions. You can’t have a team of all male bioinformaticists and expect them to do as well as a group of men and women with different perspectives and skill sets. We all benefit when we collaborate!
If anyone has a case or project they would like to work together on, we encourage them to reach out!
Something fun/personal: Interesting tidbit about you: favorite place to travel, pet, hobby, talent, funny story
Pleco: First cousing of Mr. Sucky
I LOVE to travel. One of my favorite parts about this career is that I get to see a ton of different countries and cities. Of course all travel came to a grinding halt during the pandemic so I’m really looking forward to this summer and getting back into it.
Another thing is that I’m crazy about my pets. We have two dogs (foster fails) and two fish tanks. My nanny went to the pet store with my kids to set up the fish tank. They came home with a bunch of different ones, including a pleco. They aren’t the prettiest fish and don’t do very much. Turns out they also live for 12-15 years! So Mr. Sucky is going to be with us for a very long time….