Current Major Projects
Genetic Mechanisms of undiagnosed diseases (Undiagnosed Diseases Network and Community Texome Project)
- MRTFB : (Andrews et al. Genet Med. 2023) PostDoc in the Lab pursued novel neurodevelopmental disease with Drosophila model.
- EZH1 : (Jangam S et al. Genetics. 2023) Genetics and Genomics grad student Kristy Jay and Technician Sharayu Jangam found a human mutation in a UDN case that causes homeotic phenotypes in the fly.
- RBBP5 : (Jay KL et al. In revision, Genetics in Medicine, 2023) Genetics and Genomics grad student Kristy Jay identified growth defects in fly brain related to a UDN case with a RBBP5 variant.
- Autism screening project : (Marcogliese PC et al.,Cell Rep., 2022) PostDocs and students participated in a team effort to screen autism candidate genes in fly.
|
|
Rare Disease Mechanisms -> Peroxisomal disorders - Genomic and metabolomic studies of peroxisomal disorders in humans, seeking insights from rare diseases into peroxisomal metabolism
- Drosophila models : Manor et al,J Neurosci Res,2021, Graves et al,G3 (Bethesda),2020, Assia Batzir N et al,Cold Spring Harb Mol
- Case Stud. 2019, Wangler et al,Genetics,2017, Chao et al. Hum Mol Genet. 2016.
- Metabolomics: Wangler et al, Mol Genet Metab,2023, Wangler et al,PLoS Genetics, 2018
|