Mentor Areas
biochemical genetics, CDG, epilepsy, gene discovery, genetics, genomics, glycoproteomics, glycosylation, mouse models, neurogenetics, neuroscience, targeted therapeutics
Description:
My lab uses cell and mouse model systems of rare genetic neurodevelopmental disorders that disrupt glycosylation (known as Congenital Disorders of Glycosylation, or CDG) to study glycosylation in the brain. Glycosylation is the enzyme-mediated process by which a carbohydrate (or “glycan”) is covalently attached to a target macromolecule (typically a protein or lipid) and is the most abundant post-translational modification. Most CDG patients exhibit neurological deficits such as epilepsy and neurodevelopmental abnormalities. The lab studies all types of glycosylation, with a current focus on two major types of glycosylation, N-linked and O-linked.
- N-linked glycosylation: Most CDG disrupt N-glycosylation. The single most common genetic cause of CDG results from biallelic mutations in PMM2. Patients with PMM2-CDG typically suffer from multi-systemic symptoms, including intellectual disability, seizures, and cerebellar hypoplasia with resulting ataxia. We have mouse models that recapitulate various aspects of the disease.
- O-linked glycosylation: Our lab recently identified a new CDG caused by biallelic mutations in GALNT2. Patients with GALNT2-CDG exhibit global developmental delay and multi-focal treatment-resistant epilepsy. A mouse model for this disorder exhibits seizures.
A variety of molecular and cell biology techniques will be gained from participation in the lab, which can be tailored to the level of prior experience, interests, and goals of the student. Mentoring will be provided by Dr. Edmondson and other lab members.
The Edmondson lab embraces diversity in all forms (including age, color, disability, gender identity, relationship status, national origin, religion, and sexual orientation) and encourages lab members to be their whole selves.
Preferred Qualifications
Planning on obtaining PhD or Pre-med
Project Website
Learn more about the researcher and/or the project here. https://www.med.upenn.edu/apps/faculty/index.php/g20000320/p4288999
Details:
Preferred Student Year
First-year, Second-Year
Academic Term
Fall, Spring, Summer
I prefer to have students start during the above term(s).Volunteer
Yes
Yes indicates that faculty are open to volunteers.Paid
Yes
Yes indicates that faculty are open to paying students they engage in their research, regardless of their work-study eligibility.Work Study
Yes
Yes indicates that faculty are open to hiring work-study-eligible students.