Dissecting the molecular basis of the neurodevelopmental features associated with Klinefelter syndrome

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Project Description

Klinefelter syndrome (KS) is the most common chromosome aneuploidy in humans. Our laboratory recently established a unique cohort of KS-iPSCs carrying 47,XXY, 48,XXXY, and 49,XXXXY karyotypes. We apply a disease-modeling approach to investigate the molecular basis of the neurodevelopmental features associated with KS during differentiation of KS-iPSCs into neurons using the most advanced brain-organoids differentiation methods. The Laboratory of Stem Cells and Diseases is seeking an outstanding internship student to work on the study of the role of critical X-linked transcription factors. The selected candidates will combine human iPSC cultures and genome-editing (CRISPR-Cas9) techniques.

Program - BioEngineering

Division - Biological and Environmental Sciences and Engineering

Faculty Lab Link - https://stemd.kaust.edu.sa

Field of Study - Disease-modeling, Brain-organoids, Stem Cells

About the
Researcher

Antonio Adamo

Assistant Professor, Bioscience

Professor Adamo's research interests focus on the use of human embryonic stem cells (hESCs) and patient-derived induced pluripotent stem cells (iPSCs) to model the onset and progression of human disorders linked to copy number variations “in a dish.” His team developed the largest cohort of Klinefelter syndrome (karyotype 47,XXY) and high-grade X aneuploid iPSCs (karyotype 48,XXXY and 49,XXXXY) that he uses to study the molecular dysregulations associated with X chromosome aneuploidy during the earliest stages of human development. Professor Adamo’s team combines reprogramming, organoid derivation, and genome editing techniques with a multi-omics approach to identify the transcriptional and epigenetic signatures underlying human diseases.

Desired Project Deliverables

The candidate will successfully differentiate disease and healthy iPSCs into disease-relevant tissues applying the most advanced 3D brain-organoids differentiation techniques.