Trisomy 21 Research Seminar Valletta Malta 27th April
The Down Syndrome Research Foundation and the University of Malta, shall be organising a half day seminar on a proposed study on the effect of the extra Chromosome 21 genes, in Down syndrome on the 27th April 2013, at the Old University, Valletta. The Down Syndrome Research Foundation
Malta Seminar
The Down Syndrome Research Foundation - UK, is a UK Registered Charity with International Links and an objective to improve the outcome for all people born with Trisomy 21 (T21) which is the cause of Down syndrome (DS), and is the most common cause (at birth) of learning disability.
Though the required genetic information and technology to speed the research in the design of new therapies is available, this is greatly under funded, since most of the funding is on screening and termination of pregnancies.
Trisomy 21 happens at conception. About 1 in 400 babies are conceived with three copies of chromosome 21. People with T21 have very full, happy and active lives but most have some form of intellectual disability and increased rates of congenital and some acquired conditions. For many years scientists believed that it was impossible to do anything to treat or intervene medically to lessen the effects of T21 in the person's health and wellbeing. The main reason for this was the fact that there are over 500 genes on chromosome 21. However advances within the last 10 years have linked particular genes and biochemical pathways to the particular problems seen in T21. It is now felt it is more than a hope that Down Syndrome inividuals can have treatment or treatments to help them live a life they choose. The majority of the medical and scientific community are unaware of these advances.
The fact that termination of pregnancies is illegal in Malta, together with the availability of advanced genetic laboratory facilities and one main general hospital, make Malta an ideal place to support research on the function of the genes in the extra chromosome 21. We may even discover how these genes influence the health and development of individuals with Down Syndrome. We may even discover why these pregnancies occur and understand how to reduce the risk of trisomy 21.
Registration for the Seminar is free and includes lunch. Places are limited to 20. Early booking is recommended and not later than 21st April 2013. For registration or further information please email:
There is a need to organize international collaborations to investigate the influence of regional dietary preferences and life styles and integrating the information obtained into studies of the biochemistry and epigenetics. This genetic research will investigate the genetic markers that lead to an increased risk of health problems
Dr Isabella Borg: isabella.borg@um.edu.mt or Prof Christian Scerri: christian.scerri@um.edu.mt
This work can be done number of participants.
with a small
The research scien sts that shall be taking part include:
Dr. Jill James Dr. Jill James is the Director of the Metabolic Genomics Laboratory at ACHRI and a collaborator of the Arkansas Center for Birth Defects Research and Prevention. Her research is focused on the understanding of the metabolic and genetic factors that may be mechanistically involved in the aetiology of autism, Down syndrome, and childhood acute lymphoblastic leukaemia (ALL). The Metabolic Genomics team measures plasma levels of metabolites that are predictive of impaired methylation capacity and oxidative stress. In addition, the lab measures genetic polymorphisms that could contribute to an increased risk of oxidative stress and decreased glutathione‐mediated antioxidant defence. http://achri.archildrens.org/researchers/ JamesJ.htm
Professor Benjamin Tycko Dr. Tycko’s lab has a long standing research program on epigenetics and DNA methylation in human development and in diverse disease processes, including cancer, Down syndrome, Alzheimer’s disease, and most recently autoimmune disorders. Key areas of current emphasis include (i) mechanistic studies on genetic‐epigenetic interactions that occur in cis and in trans in human tissues and (ii) mouse models to elucidate the function of differentially methylated genes. ‐ The major interests are: The identities and the physiological functions of imprinted genes. The genetic and epigenetic basis for phenotypes in Down syndrome. The the population genetics of Alzheimer's disease. http://icg.cumc.columbia.edu/research‐faculty/Benjamin‐Tycko
Professor Rima Obied Studied Pharmacy and Pharmaceutical Chemistry and completed her Diploma in Clinical Biochemistry at the University of Damascus in Syria. In 2003, she finished her PhD in Clinical Chemistry at the University of Saarland , Germany. Thereafter, she got a Post Doctorate scholarship from Alexander von Humboldt Foundation. From 2005 ‐2012, she was assistant professor at the University of Saarland and has been leading a research team and working on “methylation, folate and vitamin B12 metabolism”. She finished her “Habilitation/ Dr. Thesis” in 2010. Since February 2012, she is working at the Department of Clinical Chemistry, Saarland University Hospital , Germany.
Professor Gudrun Moore Professor Gudrun Moore is well known for her energy and enthusiasm for human molecular genetics. She was welcomed to UCL‐ ICH in January 2006, as Professor of Clinical and Molecular Genetics. She has built an international reputation for her work on the genetic aetiology of intrauterine growth restriction and genomic imprinting in the human. In 2013 she was appointed as the Deputy Director (Research) for UCL‐ICH and Co‐ chairs the SLMS Domain for Reproduction and Development. http://www.ucl.ac.uk/ich/ research‐ich/clinical‐molecular‐genetics/research/gemgroup
Professor Katheleen Gardiner Professor Katheleen Gardiner, began working on Down syndrome, initially mapping genes on human chromosome 21 at the start of the human genome project. This work led to her chairing an international committee on genomic sequence annotation when the complete DNA sequence of human chromosome 21 was generated and published in 2000. Dr. Gardiner has continued to focus her research on human chromosome 21 and Down syndrome at the Eleanor Roosevelt Institute, then at the University of Denver. She moved to the University of Colorado in 2007 and joined the Crnic Institute for Down Syndrome in 2012. Current research focuses on protein expression in mouse and human model systems of Down syndrome. http:// www.globaldownsyndrome.org/our‐story/staff‐biographies/linda‐crnic‐institute/katheleen‐gardiner‐phd
Professor Illana Gozes Professor Illana Gozes, has been studying brain‐specific molecules encompassing aspects from genetic engineering to behaviour and memory. Major studies have been devoted to the neuropeptide VIP (vasoactive intestinal peptide, a small protein found in the brain. Originally discovered as a potent dilator of blood vessels, its activity leads to increases in blood flow and improvement of bodily functions. The laboratory of Prof. Gozes was the first to isolate and purify the gene that contains the genetic information for the synthesis of VIP. It was further shown that its expression is reduced in the aging brain. Inhibition of VIP gene activity resulted in loss of memory, decreased learning abilities and inhibition of sexual function. http://www2.tau.ac.il/Person/ medicine/researcher_data.asp? type_data=research&id=abcefgbcf&el_name=Gozes&ef_name=Illana&dep_num=0100&sub_dep_num=0114
Peter Elliot Peter Elliot is the Research Director and founder of the Down Syndrome Research Founda on ‐ UK. He has a son who has Down syndrome aged 28. This charity founda on has funded a review of Down syndrome research at the Ins tute of Child Health that was published in the BMJ in 2000, that became the basis for the first randomized double blind project to test a therapy of B vitamins and an oxidants in a human trial with 156 babies with Down syndrome. The result of the project were published in the BMJ and had shown no beneficial effects. Peter EllioƩ is a board member of the Research Advisory Board of the Hoffman La Roche trial, on a therapy to improve memory represen ng parent support chari es.