Trisomy21/Down’s syndrome : From main chromosome 21 genes to potential future therapies

Trisomy 21 affects around 5 000 000 persons worldwide. The persons born with trisomy 21 have very different phenotypes according to their parental genes, to the way they are breeding and educated. The life expectancy of these persons is around 65 years in developped countries but lower in many other countries. Having a baby with trisomy 21 is still very frightening and conduct in many countries to abortion. But if scientist could find innovative therapies for very early fetus or child development, the choice may be different. A few chromosome 21 genes have been investigated in that direction. The present talk will give insight especially on 2 of them for approaching early developpment and two for early neurodegenerative aspects.

Jacqueline London (Emeritus Professor at University Paris-Diderot) has completed her PhD in the Pasteur Institute under the direction of Pr. Jacques Monod and Professor M. Goldberg in the field of protein folding and bacteriology. She moved to immunology in Necker’s hospital under the direction of Pr JF Bach and then was a visiting scientist at NIH . After coming back to Paris she settled a laboratory in molecular biology at the Blood Center and cloned glycophorins A and B (13 papers). She then moved again to Necker’s Hospital where she joined the group working on Down syndrome (Trisomy 21) and published some 35 papers on different aspects of trisomy 21 using transgenic mice for some chromosome 21 genes: APP, CBS, DYRK1A and SOD1. Since many years she tried to push the correlation between Alzheimer disease (AD) and Down syndrome (DS) and recently worked on neurotransmitters in some transgenic mice APP, and DYRK1A in the laboratory settled in the University Paris Diderot called now Paris-Cité University. She was teaching Parkinson disease and Alzheimer disease and protein aggregates since many years. She also settled in 1990 AFRT (French Association for Research on Trisomy 21) and is now AFRT Vice-president. AFRT initiated in 2005 the International Day for Trisomy 21 which is now recognized as World Down Syndrome Day (WDSD and JMT21 in french).