Project

Back to overview

Chromosome 21: functional genomics and molecular pathophysiology of its disorders

English title Chromosome 21: functional genomics and molecular pathophysiology of its disorders
Applicant Antonarakis Stylianos
Number 105602
Funding scheme Project funding
Research institution Dépt de Médecine Génétique & Développement Faculté de Médecine
Institution of higher education University of Geneva - GE
Main discipline Genetics
Start/End 01.10.2004 - 30.09.2009
Approved amount 1'137'276.00
Show all

Keywords (6)

Chromosome 21; Trisomy 21; DNA sequences; Gene expression variation; Conserved non-genic sequences; Transgenic mice

Lay Summary (English)

Lead
Lay summary
Trisomy 21 is the most common chromosomal cause of cognitive impairement and a model for Aneuploidies (gain or loss of a genomic region). Chromosome 21 is the smallest human chromosome of about 40,000,000 nucleotides and contains ~300 genes. The current research efforts focus on the elucidation of the function of this chromosome, and the molecular mechanisms of its disorders. It is likely that this knowledge will lead to the introduction of novel therapeutic interventions.
Direct link to Lay Summary Last update: 21.02.2013

Responsible applicant and co-applicants

Employees

Associated projects

Number Title Start Funding scheme
144082 Chromosome 21: functional genomics and molecular pathophysiology of its disorders 01.10.2012 Project funding
113127 Genotyping and transcriptome analyses; illumina platform 01.10.2006 R'EQUIP
127375 Chromosome 21: functional genomics and molecular pathophysiology of its disorders 01.10.2009 Project funding
121418 Ultra High Throughput sequencing platform for functional genome analysis 01.08.2008 R'EQUIP
57149 Disorders that map on human chromosome 21; cloning of genes and understanding their pathophysiology 01.10.1999 Project funding

-