From July 31st to August 3rd last summer, the town of Saint Louis, in Missouri in the United States, hosted the 8th international conference on the Smith-Magenis Syndrome: “Building bridges of hopes”.
Professor Sarah Elsea, Professor in genetics at the University of Houston in Texas, whose research on Smith-Magenis Syndrome is funded by the Foundation, takes stock of the various subjects treated during this conference.
Magenis-Syndrome is a rare genetic disorder (1/25 000 births) which causes development retardation associated with behaviour and sleeping disorders. The Syndrome is due to a loss of genetic material, a micro deletion, on the chromosome 17. Identified in 1986, the precise zone of this micro deletion is in the region 17p112.2 of the chromosome including the gene RAI1, Retinoic Acid Induced 1. The manifestations of this syndrome are very characteristic.
People living with Magenis-Smith Syndrome have specific physical particularities: square large face, outward-curving upper lip and adult size often inferior to the average. Intellectual disability is variable depending on the person.
The sleeping disorders are still present. At about 18 months, these particularities appear with an inversion of the circadian cycle of the melatonin, hormone which regulates sleep.
The Jérôme Lejeune Foundation has a follow up service for patients and families affected with this syndrome. The Foundation is one of the rare institutions to support medical research for this disease. This syndrome not being very well known and quite often under-diagnosed, families have got together in associations to encourage dialogue with the researchers.
It is for this purpose that the American association PRIMS was created in 1993. It brings together parents and researchers interested in this syndrome. Every two or three years, it organizes a conference in collaboration with research institutes and laboratories. After Reston in 2009 and Denver in 2012, Saint Louis hosted the 8th edition of this international conference last August. 35 Speakers were present in order to build bridges between medical research and the families and patients. The families have got very attached to these meetings with the researchers who are able to tell them about the scientific advances in terms of diagnosis and care for people living with Smith-Magenis Syndrome. Professor Sarah Elsea, researcher, specialist of the Smith-Magenis Syndrome and whose work is co-financed by the Foundation, spoke about the advances and new leads in research which are being explored.
Amongst other things, Professor Sarah Elsea described the ongoing studies concerning stem cells funded by the Foundation. They are meant to enable the researchers to study the neuronal anomalies related to the behaviour of the patients. Other researchers shared their advances regarding the question of genes modified by the under-expression of RAI1 impacting on the circadian rhythm, growth, obesity and behaviour of the patients. Speaking of which, it was interesting to follow the results of the studies led on animal and cell models. The frog and mice models described during this international meeting show reliably that the characteristics of Smith-Magenis Syndrome can be reproduced in order to target the cranio-facial and neurological anomalies as well as the effects of food on growth and obesity.
Finally, as explained by Professor Elsea, researchers presented the advances of studies concerning the physical manifestations of the syndrome on a long term and, particularly, concerning speech and growth. Others brought to light the very positive role the family has, and in particular of the brothers and sisters, in the development of the patients.
The Foundation is very pleased with the success of this kind of event and the advances of research concerning Smith-Magenis Syndrome which it helps to fund and, in particular, those of Professor Sarah Elsea’s since 2009. The success of this kind of event is as comforting for the researchers who can confront their leads concerning their works as it is for the families who feel that medical research is advancing.
On May 1st, 2014, within the very welcoming context of the « Vieilles Voitures De Mers” Club, mister Sellier, grandfather of Briac, a young man living with Smith-Magenis, was writing out a check of 5000€ to the Jérôme Lejeune Foundation. This amount matched the money earned by selling a Triumph, an old English car he had lovingly restored to fund research on Smith Magenis.
The Foundation is happy to be the witness and beneficiary of such an act of generosity and engagement.
Thank you to everyone in the Sellier Family.