Email

ashwini.prasad@bcm.edu

Positions

PhD Candidate

Pathology/Molecular and Human Genetics
Genetics and Genomics program
Baylor College of Medicine

Education

BS from Mount Carmel College

09/2020 - Bangalore, India

Chemistry, Zoology, Microbiology

MS from Center for Human Genetics

08/2022 - Bangalore, India

Human Disease Genetics

Professional Statement

Myotonic dystrophy type 1 (DM1) is a multi-systemic genetic disorder affecting the skeletal muscle, heart, brain, and other organs and is marked by progressive muscular weakness, atrophy and myotonia. DM1 results from the expansion of a CTG trinucleotide repeat in the 3’ untranslated region of the DMPK gene. In affected individuals, this repeat expands from a healthy range of 5-38 repeats to 50 or more, with some individuals harboring over 4000 repeats. The expressed expanded CUG (CUGexp) RNA forms double stranded RNA hairpins that aggregate as nuclear foci and sequester members of muscleblind like (MBNL) family of RNA binding proteins causing their loss-of-function (LOF). Moreover, another RNA binding protein CUGBP Elav-like family member 1 (CELF1) becomes upregulated to toxic levels in DM1 by an unknown mechanism.
I investigate the molecular mechanisms driving skeletal muscle pathology in DM1. My research focuses on characterizing the age-dependent progression and rescue potential of skeletal muscle phenotypes in the absence of somatic instability. This approach allows me to identify factors beyond somatic CUGexp RNA expansion that may contribute to disease progression, providing valuable insights into DM1 mechanisms and therapeutic strategies. My work integrates in vivo models, molecular techniques, and RNA biology to advance our understanding of DM1 skeletal muscle dysfunction and guide efforts toward developing effective therapies to mitigate mortality.

Websites