Pioneering innovative therapies to improve the lives of those with genetic intellectual disabilities
Dr. Andre Magarbane, a geneticist and former student of Dr. Jerome Lejeune, lives in Beirut, Lebanon where he is head of the medical genetics unit at St. Joseph University, but he also spends part of each month in Paris working with the Jerome Lejeune Institute. Dr. Magarbane has just opened a new clinic in Dubai for the Jerome Lejeune Foundation and here we ask him about this new project and its intended purpose in serving the Down syndrome community there.
Dr. Magarbane, you live in Beirut where you work as a geneticist and you are also the director of research at the Jerome Lejeune Institute in Paris where you collect, process, and curate some 4,000 specimens in the Institute’s biobank. You are also an active researcher and now you have opened a new clinic in Dubai, the Centre Medico-Psycho-Pedagogique for the Jerome Lejeune Institute. You are a busy man. What inspired the Jerome Lejeune Foundation and Institute to open this new clinic in Dubai, and how is it responding to an unfulfilled need in the UAE?
The idea started when we noticed that very few things were done for intellectually disabled persons. So we decided to initiate some activities like lectures, workshop and this collaboration with the Jerome Lejeune Foundation. For the moment it is not a clinic, but a paraclinic where speech therapists, physical therapist, and psychologists will be present to help children presenting different problems from intellectual disability to isolated dyslexia.
Working as a physician in both Europe and the Middle East (Lebanon and Dubai), is it possible to compare the needs of individuals in both places and how children and adults with Down syndrome are accepted in their families and society in each place?
People with intellectual disabilities are much more accepted in Europe than in Arab countries where it is still a big thing to have a child with these kinds of genetic problems. It is assumed in that culture that the parents did something wrong. We have to change this.
The clinic in Dubai has both a medical and pedagogical purpose. What do you see as the greatest need of those living with Down syndrome in Dubai? How many patients do you anticipate serving there and do you anticipate that you will be serving both the Emirati population as well as those living and working in Dubai from other countries?
We will offer excellent follow-up for all children brought to us. We aren’t certain how many patients will use the Center yet, but we will welcome all who come to us. Whether they are from poor or rich families, they will all be welcomed and treated by the same staff.
You have done some fascinating research on transcriptomes. Can you briefly describe what you have learned and if there are any therapeutic implications gathered from your research.
Yes. To be very simplistic, transcriptomes are readouts of how genes in a cell are expressed. We established a transcriptome of DS patients with so-called “high" and “low" IQs and found that two genes on chromosome 6 called HLA-DQA1 and HLA-DRB1 may be a factor in distinguishing between the two populations. Larger multi-center studies are needed to determine in a valid way the presence of such markers. The ability to determine valid markers could have major consequences for identifying targets for treatment. For example, the genetic association with HLA suggests the involvement of the immune system in intellectual disability and offers new targets for drug development. Continued and increasing investments in research on the genetic and molecular basis of T21 promise to transform the lives of these individuals and the communities in which they live.
You have been involved in working with the Jerome Lejeune Institute for several years. Can you provide a brief summary of how the mission has evolved in light of new research developments and/or changing needs of those living with Down syndrome and other genetic intellectual disabilities.
The Jerome Lejeune Foundation, and the Jerome Lejeune Institute remain on the cutting-edge of scientific research into the cause and treatment of genetic intellectual disability. The last few years have been a particularly exciting time in Down syndrome research, and I am proud to say that we have been at the forefront of supporting and conducting this research globally. The Foundation’s current involvements in drug development and in conducting and funding clinical trials both at the Jerome Lejeune Institute, and elsewhere, ensure that the future for children and adults living with Down syndrome, in particular, is full of hope.
The Jerome Lejeune Foundation (France and the U.S.) was founded in 1996 to carry on the work of the legendary geneticist, Jerome Lejeune. Through its mission of research, care, and advocacy, the Jerome Lejeune Foundation serves those with Down syndrome and other genetic intellectual disabilities in a spirit of profound respect for their inherent human dignity, and that of all human persons.