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

Project

Project Details

Program
BioEngineering
Field of Study
Disease-modeling, Brain-organoids, Stem Cells
Division
Biological and Environmental Sciences and Engineering
Faculty Lab Link
https://www.kaust.edu.sa/en/study/faculty/antonio-adamo

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.

About the Researcher

Antonio Adamo
Associate Professor, Bioscience
Biological and Environmental Science and Engineering Division

Affiliations

Education Profile

  • FEBS Senior Postdoctoral Fellow, European Institute of Oncology (IEO), Italy, 2012-2015
  • Postdoctoral Fellow, Center of Regenerative Medicine of Barcelona (CMRB), Spain, 2009-2012
  • Ph.D. in Biotechnologies applied to Medical Sciences, University of Milan, 2008
  • M.Sc., Medical Biotechnologies and Molecular Medicine, University of Milan, 2005
  • B.Sc., Medical Biotechnologies, University of Milan, 2003

Research Interests

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 a€œin a dish.a€ 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 Adamoa'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.

Selected Publications

  • Astro V, Alowaysi M, Fiacco E, Saera-Vila A, Cardona-LondonIƒo KJ, Aiese Cigliano R, Adamo A: Pseudoautosomal Region 1 Overdosage Affects the Global Transcriptome in iPSCs From Patients With Klinefelter Syndrome and High-Grade X Chromosome Aneuploidies. Frontiers in Cell and Developmental Biology 2021.
  • Astro V., Ramirez-Calderon G., Pennucci R., Caroli J., Saera-Vila A., Cardona-London Iƒo K., Forastieri C., Fiacco E., Maksoud F., Alowaysi M., Sogne E., Falqui A., Gonzalez F., Montserrat N., Battaglioli E., Mattevi A., and Adamo A. Fine-tuned KDM1A alternative splicing regulates human cardiomyogenesis through an enzymatic-independent mechanism. iScience 25, July 15, 2022.
  • Fiacco E, Alowaysi M, Astro V, Adamo A: Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY). Stem Cell Research Volume 49 December 2020.
  • Alowaysi M, Astro V, Fiacco E, Adamo A: Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23). Stem Cell Research Volume 49 December 2020.
  • Adamo A., Atashpaz S., Germain P.-L., Zanella M., Da'Agostino G., Albertin V., Chenoweth J., Micale L., Fusco M., Unger C., Augello B., Palumbo O., Hamilton B., Carella M., Donti E., Pruneri G., Selicorni A., Biamino E., Prontera P., McKay R., Merla G. & Testa G. (2015) 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. Nature Genetics 2015 Feb;47(2):132-41
  • Adamo A, Barrero MJ, IzpisAºa Belmonte JC. (2011) LSD1 and pluripotency: a new player in the network. Cell Cycle 10(19): 3215-6.
  • Adamo A, SesA© B, Boue S, CastaA±o J, Paramonov I, Barrero MJ, IzpisAºa Belmonte JC. (2011) LSD1 regulates the balance between self-renewal and differentiation in human embryonic stem cells. Nature Cell Biology 13(6): 652-60.

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.

Recommended Student Background

Cell Biology
Molecular Biology
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3-6 months
Internship period
100+
Research Projects
3.5/4
Cumulative GPA
310
Interns a Year