Margot A. Cousin, Ph.D.
Why did you choose to study clinical and translational research?
Always interested in health and human disease, I have a particular curiosity for determining the genetic and genomic underpinnings of disease. My early career experiences as a technologist in a clinical genetics laboratory gave me insight into a wide range of genetic conditions and the genetic variation that informs diagnosis, prognosis and treatment in the clinic. Wishing to engage more in research, I pursued a doctorate in clinical and translational biomedical science where I could learn about patient-focused research and team-science approaches to solving clinical problems. This experience affirmed my desire to remain between basic science and clinical practice. I then pursued postdoctoral training in individualized medicine to improve diagnostic rates for rare genetic disease whereby I used multidisciplinary collaborative research to bring answers to patients on a diagnostic odyssey.
I now hope to leverage my training and experiences to bring novel therapeutic opportunities to patients suffering from rare genetic disease. I chose clinical and translational research to bridge the gaps between what can be done and what is current standard of practice for patients with rare genetic disease to move beyond diagnoses to bring new options to those lacking specific or curative therapies.
What type of research are you doing?
My research aims to span the bench to bedside by way of a collaborative team-science approach to individualize development of therapeutics for rare genetic disease patients. For a subset of patients with severe rare genetic disease, synthetic modified oligonucleotide medications can be rationally designed to target and correct the effects of specific disease-causal genetic alterations. We aim to leverage partnerships with external private foundations as well as our own lab-based approaches to develop these patient-specific treatments. The overall goal is to build a program to scale this research and development to meet the needs of Mayo Clinic patients who may benefit.
Why Mayo Clinic?
Mayo Clinic is the ideal place to engage in clinical and translational research aimed at bringing therapies to a patient population in need, especially for patients affected by severe ultrarare genetic disease. Mayo Clinic's diagnostic power is unparalleled and ultrarare diagnoses are not uncommon. Pairing this patient population with my established collaboration with the Department of Clinical Genomics and with the support of the Center for Clinical and Translational Science, the Center for Individualized Medicine, and my outstanding mentors and external collaborators, I am extremely optimistic I can achieve the aims of my study and reach my career goals.
What are you looking forward to as a KL2 scholar?
As a KL2 scholar, I am thrilled at the opportunity to build a research program on antisense oligonucleotide (ASO) therapeutics for rare genetic disease and advance my career toward independence by working with my mentorship team and collaborators. This work will bring opportunities for patients without any specific or curative therapies and will be critical to lay the foundation to achieve independent R01 funding to continue to advance my career.
Review Dr. Margot Cousin's publications.
Mayo Clinic School of Graduate Medical Education
KL2 Appointment Dates
July 2022 through June 2025
Multidisciplinary Expertise Utilized
Genomics, cellular and molecular biology, regulatory, bioinformatics
RNA-targeted Individualized Therapies for Rare Genetic Disorders