My name is Kerry Larkin, and some of you have likely received emails from me over the past two years on behalf of Katherine Timothy and Dr. Andy Golden regarding the Timothy Syndrome Natural History Study. It has been an honor to be a part of this project and work with you all over the past few years to paint a more complete picture of Timothy Syndrome and all its nuances and complexities.
As it is hard to learn about someone from simply an email signature, I wanted to start by introducing myself a little further. I joined Andy’s lab at the United States National Institutes of Health (NIH) in 2020 as a post-baccalaureate research fellow after graduating from college. I was interested in studying rare genetic diseases and was excited to join Andy’s lab where we model these rare diseases in microscopic nematode worms called C. elegans. One of the projects I took over in the lab was modeling Timothy Syndrome. C. elegans worms have a version of CACNA1C, the causative Timothy Syndrome gene. Through gene editing, I’ve been mutating the worms’ CACNA1C-like gene to recreate Timothy Syndrome variants and investigating what happens to learn more about the gene’s cellular mechanisms.
When I joined the lab’s Timothy Syndrome project, Andy and Katherine asked if I would additionally help with data collection and organization for the first-ever Timothy Syndrome Natural History study. The overall goal of the project is to portray what we as a Timothy Syndrome community know about the disease’s progression, including which symptoms are associated with different Timothy Syndrome CACNA1C mutations, when they occur, and what treatments have been effective or ineffective in managing them. By presenting the information we know to other physicians and researchers, we also hope to emphasize gaps in our knowledge: which symptoms of Timothy Syndrome are common but have yet to receive sufficient research into their cause or treatment? The best way to achieve these goals is to ask individuals who have the most experience with the disease: Timothy Syndrome families.
I want to thank Timothy Syndrome families for their care and dedication in answering our comprehensive survey about their children. To ensure we were not missing any shared symptoms, we asked about a wide range of characteristics and organ systems: from cardiac concerns to gastrointestinal problems. After collecting results via an online Google Form, I’ve been aiding Katherine and Andy in writing up the study by summarizing the data and looking for trends across Timothy Syndrome CACNA1C variants.
Coming mostly from a background of molecular biology research studying cells and genes, I have greatly appreciated the opportunity to work with Timothy Syndrome families to approach rare disease research patients’ experiences. You all have the most intimate understanding of the disease from caring for an individual with it every day, and hearing your perspectives is essential to guiding research on the disease.
Learning about how to center these patient experiences and the relationships between families, advocacy groups, researchers, and physicians in better understanding rare diseases has broadened my perspective of research in immense ways. My time at the NIH is drawing to a close (though I am excited to continue assisting with the Timothy Syndrome Natural History Project after I leave), and as I move on to graduate school to continue my training as a biomedical researcher, I am grateful to take these lessons I learned from working with Timothy Syndrome families with me to inform how I conduct research in the future.