Every patient is my brother (Jerome Lejeune)
Philadelphia, PA (PRWEB) September 18, 2013
The Jérôme Lejeune Foundation, USA’s Scientific Advisory Board has selected 5 U.S. researchers for funding in its first funding cycle of 2013. The selection was based upon their project’s merit, and its relevance to advancing understanding of genetic intellectual disability leading to eventual therapeutic treatments. The Jérôme Lejeune Foundation was established in Paris France in 1996 to continue the legacy of Dr. Jérôme Lejeune, the researcher and medical doctor who discovered the genetic cause of Down syndrome. The U.S. branch of the Foundation was established in 2011. Total international funding by the foundation in this cycle is $1.1 million to researchers working in 8 countries.
The Foundation is pleased to again support the work of Dr. Anita Battacharyya, a senior scientist at the Waisman Center at the University of Wisconsin, Madison. Dr. Battacharrya’s project is titled: Investigation of oxidative stress in human Down syndrome neuronal development. Using induced pluripotent stem cells, Dr. Battacharyya will investigate the role of oxidative stress by testing whether oxidative stress defects are in response to environment or intrinsic to human trisomy 21 cells, and also whether oxidative stress and reduced synaptic activity are linked.
Dr. Xio-Fei Kong, St. Giles Laboratory of Human Genetics of Infectious Diseases at the Rockefeller University in New York, is interested in the increased susceptibility of those living with Down syndrome to mycobacterial infection and especially chronic mucocutaneous candidiasis (CMC). He will collect blood samples for DS patients, and investigate their interferon responses and IL-17 immunity hoping to open a pathway to potential medical treatment.
Dr. Gilbert di Paolo, Assistant Professor in the Department of Pathology and Cell Biology at Columbia University in New York will study the role of the Synj1-App interaction in Down syndrome-associated endosomal anomalies. Endosomes are cellular mechanisms that regulate the sorting and trafficking of proteins and lipids and play a critical role in neuronal function and communication. Those with Down syndrome have abnormally large endosomes that are thought to be partly responsible for learning deficits and cognitive decline. Dr. DiPaulo anticipates that his investigations will provide a better understanding of the mechanisms underlying neuronal malfunction and cognitive impairment in those with Down syndrome.
With the announcement that Dr. Jeanne Lawrence and her lab at the University of Massachusetts has discovered a process to silence the extra 21st chromosome by introducing the XIST gene, the next question becomes how and whether XIST can be used to modify gene dosage on chromosome 21. Dr. Volney Sheen, of Beth Israel Deaconess Medical Center, has received funding to investigate further the use of XIST for this specific purpose.
Lastly, the Jérôme Lejeune Foundation will fund a meeting of the Society for the Study of Behavioral Phenotypes organized by Dr. Gene Fisch, a research professor at New York University. The meeting will focus primarily on disorders known, or likely to be caused, by genetic abnormalities and specifically autism spectrum disorders (ASD), Williams syndrome, deletion 22q syndrome, Wolf-Hirschhorn syndrome, Prader-Willi syndrome, and Tuberous Sclerosis Complex.
The Jérôme Lejeune Foundation awards grants in two funding cycles each year and favors unique projects that it believes will significantly advance knowledge leading to therapeutic interventions which are intended to improve the lives of those living with genetic intellectual disabilities. The Jérôme Lejeune Foundation (Paris, Philadelphia) is the world’s largest funder of research, committing approximately $5 million annually to support clinical trials, research conducted at its own labs in Paris, and other researchers working world-wide to improve the lives of those living with genetic intellectual disabilities.
Founded in 1996 by the Lejeune family to carry on the work of Professor Jérôme Lejeune, the Jérôme Lejeune Foundation is committed to research, care, and advocacy for those with Down syndrome and other genetic intellectual disabilities. The Foundation also funds the Jerome Lejeune Institute in Paris, a medical clinic, which provides specialized health care services and support to over 5,000 patients.