SUMMARY
The research of Margot A. Cousin, Ph.D., aims to individualize the development of therapeutics and guarantee clinical trial readiness for people with rare genetic diseases. Her work goes from the bench to bedside and uses a shared team-science approach to improve outcomes for individuals with rare diseases. Dr. Cousin studies disease mechanisms, develops new therapies, and works with populations to prepare and execute clinical trials. Her studies go from wet laboratory to clinical research. Dr. Cousin's research involves partnerships with advocacy groups, private foundations, industry and other academic organizations. Her overall goal is to build a program to scale this research and development to meet the needs and benefits of people with rare diseases.
Focus areas
- Disease models taken from individuals. Dr. Cousin's research focuses on developing and studying cell-based models of disease from primary individual's tissue such as skin biopsies to study genetic variants and disease mechanisms, and to develop therapies.
- Antisense oligonucleotide development. Dr. Cousin develops custom antisense oligonucleotide therapeutic strategies for individuals with ultrarare genetic diseases using lab-based and collaborative methods.
- Clinical trial readiness. Dr. Cousin addresses clinical trial readiness needs of rare disease populations including biobanking, biomarker development and disease natural history studies.
Significance to patient care
There are approximately 300 million people worldwide who have rare diseases. Most of these rare diseases are genetic and can often be severely debilitating or life-threatening. Very few of these rare diseases have any specific or curative therapy.
By systematically addressing the common needs of rare genetic disease populations, Dr. Cousin aims to speed the translation of currently available gene-targeted therapeutic technologies into clinical practice. Dr. Cousin and her team focus on the study of a few rare genetic diseases by which they will develop and refine a repeatable model for other diseases.
Professional highlights
- Director, N-of-1 therapeutics program, Mayo Clinic Center for Individualized Medicine, Mayo Clinic, 2024-present.
- Member, N=1 collaborative, Institutional Implementation Working Group and Data Access Working Group, 2021-present.
- Semifinalist, Charles J. Epstein Trainee Award for Excellence in Human Genetics Research, American Society of Human Genetics, 2018.