2020 Abstract Competition Winners

         February 18, 2020

We would like to thank everyone who entered our 2020 Abstract Competition. It is wonderful to read about the different ways Golden Helix software is being applied around the world. It is our pleasure to announce this year’s winners!

First Place: Dr. Robert Hamilton and Priyanka Kugamoorthy – SickKids

Yearly Clinical Review of a Patient’s WGS Results Leads to a New Gene Candidate for a Complex Cardiomyopathy Phenotype

Dr. Hamilton is a children’s cardiologist, heart rhythm specialist, and senior associate scientist at The Hospital for Sick Children and Research Institute, Toronto, Canada. He is a senior electrophysiologist, manages an inherited arrhythmia clinic, and has gained a unique perspective on the clinical impact of hereditary heart rhythm conditions on children and families. His research is focused on expanding the understanding of these inherited arrhythmia conditions and improving their diagnosis.

Dr. Hamilton has particular interest and expertise in arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada Syndrome (BrS) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). Each of these conditions is difficult to diagnose, particularly because underlying responsible genes often cannot be found in the affected families. The Hamilton lab is developing highly accurate blood tests for these conditions that do not depend on genetic findings. The lab’s focus, therefore, is to “solve sudden death, one disease at a time.”

In 2017, Dr. Hamilton identified a novel biomarker and target for arrhythmogenic right ventricular cardiomyopathy, presented this work as late-breaking science at the European Society of Cardiology, published in the European Heart Journal (highest impact cardiovascular journal) and is translating/commercializing this test to the clinical laboratory. This discovery may also lead to new treatments for ARVC.

This year, Dr. Hamilton has identified a biomarker for Brugada Syndrome, a heritable condition that causes sudden death at night in young individuals, particularly males. He has presented this work as late-breaking science at the American Heart Association, aiming to publish again in the European Heart Journal, and also translate/ commercialize this test to the clinical laboratory. The work is currently ‘embargoed’ until November 18th, 2019.

Beyond research and clinical care, Dr. Hamilton spends his time at the cottage with family and maintaining and sailing a cruising catamaran sailboat.

Priyanka Kugamoorthy

First Place Continued: Priyanka Kugamoorthy – SickKids

Yearly Clinical Review of a Patient’s WGS Results Leads to a New Gene Candidate for a Complex Cardiomyopathy Phenotype

Priyanka is a recent medical school graduate, having trained in hospitals out of Chicago, Illinois, and Toronto, Ontario. She is currently working with the Heart and Pregnancy Program at Toronto General Hospital and in Translational Medicine at The Hospital for Sick Children and Research Institute alongside her mentors Dr. Robert Hamilton and Dr. Danna Spears. Her research interests are in inherited heart rhythm conditions, primarily those in pregnant mothers with a focus on Peripartum Cardiomyopathy (PPCM). 

Priyanka was first introduced to medicine as a result of her own birth. Her mother had her congenital heart condition (aortic stenosis) exacerbated by her pregnancy with Priyanka. The usual course of action in the early ’90s would have been to tell the parents that continuing the pregnancy would constitute a life-threatening risk to the mother and child. However, with Priyanka’s mother determined to carry out the pregnancy, her cardiac team (which consisted of members from Toronto General, Sick Kids, and Mount Sinai) decided on a groundbreaking approach. She was arranged to have an aortic balloon valvuloplasty which thankfully was a success and aided in the healthy delivery of Priyanka. Her mother also went on to later have a complicated cardiac surgery called The Ross Procedure (a pulmonary autograft) 4 years later which was also a success.  

She is still followed out of Toronto General Hospital as a cardiac outpatient, so Priyanka naturally grew up with the care of her mother’s impressive cardiac team. As her mother was a pioneer patient in the Heart and Pregnancy program, Priyanka soon developed a strong interest in Cardiology with the hopes of one day being able to give back to the field that helped save her and her mother’s lives.  

Priyanka has published alongside her research team in the likes of the American Heart Association and Heart Rhythm Society with a recent manuscript submission on a written review of the Management of Tachyarrhythmias in Pregnancy for publication in Obstetric Medicine SAGE Journal.  

Outside of medicine, Priyanka enjoys hiking and exploring through various parts of Northern Ontario with her family and friends and is a graduated classical dancer.

Second Place: Helen Harrison – Tx Genetic Research

The Quest for a Genetic Profile for Urogenital Degradation and
Nutritional Solutions

Patient-researcher Helen C. Harrison, M.A. suffered from interstitial cystitis, a painful and chronic inflammatory condition of the bladder experienced by about 8 million Americans, 80% of whom are women, and which currently has no known cause. When conventional and alternative treatments did not permanently resolve her symptoms, she determined in 2014 to find the genetic and nutritional causes. Relying on her academic training in the history of science, by 2017 Harrison had developed for herself a successful working model of epithelial mucosa degradation and dietary and nutritional intervention.

She and her partner Robert L. Backstrand, M.A. started Tx Genetic Research in 2017 as a nutritional genomics company. They consult with individuals and educate the public on the nutritional and dietary factors related to mucosa decline, and research the scientific literature for facts regarding the relationship between nutrition, diet and the genetic variants that contribute to epithelial problems. With the help of Golden Helix’s VarSeq program, they are now identifying a genetic variant profile for interstitial cystitis.

Third Place: Kaitlyn Sarlo Davila – University of Florida

Leveraging SNP & Variation Suite to Identify putative functional mutations for Thermotolerance in Beef Cattle

Kaitlyn is a Ph.D. candidate in Raluca Mateescu’s lab at the University of Florida where she works on unraveling the genetics of thermotolerance in beef cattle. She previously received a master’s degree in Animal Breeding and Genetics from Texas A&M University. As a native of Florida, she enjoys working on the thermotolerance project because of its importance to the state’s cattle producers. When not in the lab or the office she enjoys spending time on her family’s ranch.

View Kaitlyn Sarlo Davila’s webcast recording here.

Again, we had a vast number of submissions for this contest. I’d like to thank everyone who put forward an abstract for their contributions. Please join me in congratulating the winners.

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