As we celebrate GGC’s 50th anniversary, we will publish monthly ‘Then & Now’ blog posts throughout 2024.
Follow along with us as we reminisce!
You could say GGC’s Lynn Rimsky has a “curiosity killed the cat” type of personality. She has always been fascinated by science and how things work – asking “how” or “why?” Naturally, this led her to pursue a career in science.
Lynn joined GGC in 1996 as a technologist in the molecular diagnostic laboratory under the leadership of John Longshore, PhD. It was the era of single gene Sanger sequencing and when radioactivity was used for southern blots, and before chromosomal microarrays, NGS panels, and whole exome sequencing.
Lynn transferred to the Division of Research in 2006 to work under Dr. Anand Srivastava in his autism research. Dr. Srivastava’s team focused on comparing blood samples from patients with autism to healthy controls in hopes of identifying differences in the gene(s) of interest in order to explain the patient’s diagnosis of autism. For example, if a patient with autism had a translocation (when a piece of one chromosome breaks off and attaches to another chromosome), the team would narrow down the breakpoints on the chromosomes, determine if any gene(s) of interest were located near the breakpoint, and amplify the area to compare it against the control samples.
In 2018, when Dr. Rich Steet and Dr. Heather Flanagan-Steet assumed the positions of Director of Research and Director of Functional Studies, respectively, the focus of GGC’s research evolved into studying rare metabolic diseases. Lynn’s work shifted to a class of rare conditions called Congenital Disorders of Glycosylation (CDGs) where she conducts experiments to better understand how these genes function and the clinical features they cause.
CDGs are genetic conditions characterized by defects in enzymes and proteins that function to attach sugar molecules to proteins or lipids, leading to a wide range of symptoms affecting multiple organ systems. Lynn was fast at work exploring enzyme activity and glycosylation patterns in zebrafish centered around a gene with a human counterpart, in this case, PMM2. Having a better understanding of PMM2’s function and the disease mechanism allows for the possibility of medical intervention for patients with a CDG.
We often think of the idiom, “Curiosity killed the cat,” meaning you should be cautious about asking too many questions. But what if I told you curiosity didn’t kill the cat after all? Actually, the complete idiom is, “Curiosity killed the cat, but satisfaction brought it back.” And for Lynn, this means the information you seek may be hard to acquire, but the satisfaction of discovery is worth the journey. If you now think of that in terms of genetic research, curiosity, like that of Lynn and her research colleagues is not only bringing satisfaction to GGC scientists, but it is providing hope to the many patients and families around the world who need answers and treatments.
Of course, Lynn enjoys the day-to-day work of her job, but more importantly, she understands that when it comes to medical research, there is no such thing as too small of a discovery. Future breakthroughs and cures are built off the small discoveries. And that is worth the curiosity.