Email

janelp@bcm.edu

Positions

PhD Candidate

Pathology / Molecular & Human Genetics
Baylor College of Medicine
Houston, TX US
Genetics & Genomics program

Staff Research Associate II

Population, Health, and Reproduction
UC Davis School of Veterinary Medicine
Davis, CA
Managed translational veterinary genetics laboratory focused on genetic diseases in the horse and used experimental mouse models to investigate neurodegenerative disease related to vitamin E deficiencies.

Assistant Specialist

Genomics High Throughput Facility
UC Irvine
Irvine, CA
Provided services for DNA and RNA analysis for clients investigating gene expression and genome sequence variation.

Addresses

Room 268B (Lab)

Baylor College of Medicine
1 Baylor Plaza
Houston, TX 77030
United States
Phone: (713) 798-5021
janelp@bcm.edu

Education

BS from University of California, Davis

06/2016 - Davis, California United States

Genetics and Genomics

Professional Statement

Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy. Patients affected by DM1 experience various multi-systemic symptoms including cognitive impairment, heart conduction deficits, and progressive skeletal muscle wasting. In addition to these symptoms, a leading patient complaint is for gastrointestinal (GI) disturbances. The mechanisms leading to DM1-associated GI symptoms, however, remain unexplored. The main goal of my proposed project is to determine how the loss of RNA binding protein family muscleblind-like (MBNL) alters the function of smooth muscle along the GI tract.

DM1 is caused by a CTG repeat expansion within the 3'UTR of Dystrophia Myotonica Protein Kinase (DMPK) gene. When transcribed, expanded CUG transcripts (CUGexp RNA) accumulate as RNA foci in the nucleus. CUGexp RNA dysregulates two RNA binding proteins: muscleblind-like family (MBNL) and CUGBP-elav-like (CELF) family. MBNL proteins will preferentially bind these RNA foci, leading to MBNL sequestration and loss of function, while CELF is stabilized by mechanisms of hyper-phosphorylation leading to a gain of function.

Websites

Funding

Training Grant - #T32 GM08307-30

(07/29/2020 - 07/28/2021) Grant funding from NIGMS

Reappointed

Training Grant - #T32 GM08307-29

(07/29/2019 - 07/28/2020) Grant funding from NIGMS