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Post Doctoral Fellow-MSH-30001-002

Company

Mount Sinai Health System

Location

New York, United States

Type

Full-time

**Job Description**

**Using Human Cortical Brain Organoids to Uncover Molecular Mechanisms and Treatment Efficacy in PDHA1-Related PDHc Deficiency**

This project aims to develop and investigate human cortical brain organoids (hCBOs) derived from induced pluripotent stem cells (iPSCs) to elucidate molecular mechanisms and assess potential treatment strategies for **PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency** . The study will integrate structural, metabolic, and functional assessments to identify disease-related alterations and evaluate therapeutic interventions.

The first three months will focus on generating hCBOs from patient-derived and control iPSCs. From months four to six, neuronal structure and development will be characterized at the molecular level. Single-cell RNA sequencing (scRNA-seq) will be performed to identify cell-type-specific transcriptional alterations in PDHA1-deficient organoids. Parallel metabolic analyses will begi...

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