What are the responsibilities and job description for the Postdoctoral researcher in neurodevelopmental disorder research position at University of Texas Southwestern Medical Center?
A postdoctoral position is available in the laboratory of Kosuke Izumi, in the Division of Genetics and Metabolism, Department of Pediatrics at UT Southwestern Medical Center to study molecular mechanism of rare Mendelian neurodevelopmental disorders, such as CHOPS syndrome, NKAP-related syndrome, and CBX1-related syndrome. My group discovered these diagnoses, and we have collected unique clinical information and samples from the patients with these diagnoses. These diagnoses are due to genetic variants in genes encoding key chromatin proteins. Hence, these diagnoses serve as unique models to understand the roles of chromatin proteins in human neurocognitive development. Taking advantage of patients’ clinical information, patient-derived cell lines, and mouse models of these developmental disorders, we aim to learn the molecular mechanism of developmental disabilities seen in children in general.
Responsibilities include formulating research plan, writing manuscript drafts, and conducting molecular biology experiments such as cell/tissue culture (mainly induced pluripotent stem cells), mouse husbandry/colony maintenance, PCR, DNA extraction, RNA extraction, immunoblotting, chromatin immunoprecipitation, qPCR, droplet digital PCR, DNA/RNA fluorescent in situ hybridization (FISH), CRISPR-Cas9 genome editing, immunohistochemistry staining etcs.
Qualifications:
Candidates must hold a Ph.D. and/or M.D. degree. Experience in basic molecular biology experiments leading to publication in peer-reviewed journals is required.
The candidates with induced pluripotent stem cell culture experience and mouse handling/colony maintenance/husbandry/tissue dissection experience are preferred.
Selected publications:
1: Izumi K et al. (2015) Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin. Nat Genet. 47(4):338-44.
2: Fiordaliso SK et al.(2019). Missense Mutations in NKAP cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Genet. 105(5):987-995.
3: Kuroda Y et al.(2023). Dominant-negative variants in CBX1 cause a neurodevelopmental disorder. Genet Med. 25, 100861.
4: Iwata-Otsubo A et al.(2024) Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder. Hum Genet. 143(3):437-453.
Lab information:
Izumi lab:
https://labs.utsouthwestern.edu/izumi-lab
Contact:
Kosuke Izumi, MD, PhD:
Kosuke.Izumi@UTSouthwestern.edu
