Marianna Weener
Physician Scientist, Expert in Ophthalmology and Rare Diseases, Gene & Cell Therapy
- Role
- Researcher at Massachusetts Eye and Ear
- Location
- Boston, MA, US
- LinkedIn followers
- 500 followers
About Marianna Weener
Dr. Marianna Weener is a physician-scientist specializing in inherited retinal…
Experience
Researcher
Sep 2022 — Present · Boston, MA, US
Whole exome sequencing and gene-panel sequencing analysis genetically solve 55–60% of inherited retinal diseases (IRD) cases. The hidden genetic variations may be unrecognized structural variants and deep-intronic variations, which can be identified by whole genome sequencing or gene-specific locus sequencing. Copy number variations (CNV)s can explain up to 18% of previously unsolved cases. Receiving a molecular diagnosis becomes increasingly important with the development of gene and other targeted therapy for IRDs. Up to 10 years ago, it was not possible to slow down, stabilize, or treat the vision impairment in patients with IRDs. This changed for a small group of patients with RPE65 mutations, as gene augmentation was successfully and safely applied through subretinal injections of recombinant adeno-associated viruses (rAAVs). The project I am involved in is dedicated to solve the cases of partially solved autosomal recessive cases of IRDs when second mutation is located presumably in deep intronic area. Experimental method is developed and applied to interrogate the pathogenicity of rare deep intronic mutations via implementing stable or transient transfection of the cell line with the cassette containing fluorescent green (GFP) or red (mCherry) label.
Education
Russian Presidential Academy of National Economy and Public Administration
Master of Business Administration (MBA), Management, business analytics
2007 — 2009
Lomonosov Moscow State University (MSU)
Doctor of Medicine (MD), Medicine
2001 — 2007
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