Columbia University in the City of New York · GeneticsPUM1 and Neurogenetics Lab
Vincenzo Alessandro Gennarino · New York, New York
Research Focus
Dr. Gennarino's lab focuses on understanding the role of the PUM1 gene in different neurological disorders. They study how various mutations in this gene lead to distinct symptoms, such as mild ataxia or severe developmental disorders. By creating mouse models and examining human cases, the lab aims to uncover the underlying molecular mechanisms that lead to these diverse phenotypes.
PUM1neurological diseasesataxiadevelopmental disordersgene regulation
Research Aims
4AIM 01Investigate how mutations in PUM1 affect neurological function.
AIM 02Determine the distinct pathogenic pathways for PRCA and PADDAS.
AIM 03Characterize molecular profiles in patient-derived cell lines.
AIM 04Explore the interactions of PUM1 with other proteins in the brain.
Skills the Lab Values
mouse modelsmolecular profilingRNA immunoprecipitationcell culturegenetic sequencing
Output against the department
Publications49bottom 9% of dept.235th of 259
this lab
most publishedleast published
Citations4.6kbottom 24% of dept.196th of 259
this lab
most citedleast cited
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