CFXF FUNDS THREE NEW RESEARCH PROJECTS

We are delighted to announce that in the past few months, three new and very different projects have been added to the CFXF research project list.

In the Northeastern United States, a collaboration has been formed among Conquer Fragile X Foundation and three top-notch U.S. University research labs, one at the Albert Einstein College of Medicine of the Yeshiva University in New York, one at the Rockefeller University in New York City and one at Brown University in Providence, RI. CFXF has provided a grant for Dr. T.M. Dhanrajan, a research associate, to work under the direction of Dr. Gary Bassell at AECOM to integrate the research efforts of investigators in the labs of Drs. Bob and Jennifer Darnell at Rockefeller, Dr. Mark Bear at Brown University and Dr. Bassell's own lab at AECOM. Each of these researchers is a world-renowned leader in genetic research and each has developed complementary approaches and expertise in fragile X research. The collaboration and integration that will be achieved through this grant will foster an exchange of ideas, technology and resources and stimulate new and creative directions in fragile X research. As this project develops and findings unfold, CFXF hopes to blend in the work of its international partners. This type of creative collaboration is one of the most effective ways to advance research toward effective treatment and hopefully a cure for fragile X.

In Melbourne Australia, CFXF is funding Dr. Assam El-Osta of the Peter MacCallum Cancer Institute for his project, "Profiling Chromatin-Dissecting the regulatory binding pattern of Fragile X chromosome in vivo." The primary goals of this project are to, establish a model of gene silencing, understand how the methyl-CpG binding proteins control fmr1 silencing, and determining whether methylation-dependent repressors operate in an already hypoacetylated chromatin context. We believe this project will add a new dimension to the basic science research projects currently funded by CFXF. Dr. El-Osta was trained in the lab of the world renowned Dr. Peter Wolffe, and we believe he will be a wonderful addition to our research team. Please read his biographical sketch featured in the Scientific Advisor section.

A third project in Malaga, Spain is pending. Dr. Yolanda de Diego of the Carlos Haya Hospital Research lab, Malaga, Spain will soon be working on the first CFXF project in Spain. This small, innovative project will test the hypothesis that a specific function of FMRP in the adrenal gland may disturb the secretion of hormones and dysregulate the HPA axis, causing a hyperactivity of the fragile X patient to stressors. Specific project activity will be the application of antioxidants to equalize the oxidative system and the study of the behavioral and learning profile of the fragile X mouse model in response to treatment.

NEW GENETIC AND RARE DISEASE INFORMATION CENTER LAUNCHED

The National Human Genome Research Institute and the NIH's Office of Rare Diseases have collaborated on a new information center that delivers free and immediate access to information specialists who can provide accurate reliable information about genetic testing. The new center, called the Genetic and Rare Diseases Information Center, provides information on any of the more than 6,000 genetic disorders that affect over 25 million Americans. Some of these disorders are rare, affecting relatively few people, and information about them can be difficult to find.

If you, or someone you know has recently received a diagnosis of Fragile X or another genetic disorder, call the Genetic and Rare Diseases Information Center. Contact them Monday through Friday, 12 pm to 6 pm at 1-888/2052311 or email or fax 24 hours a day to gardinfo@nih.gov or 1-202/966-5689.

EXCITEMENT GROWS IN THE FRAGILE X COMMUNITY

Fragile X scientists, clinicians, therapists and families all over world share a growing sense of excitement at the recent influx of new fragile X research. Last year, the National Institutes of Health published a call for new and innovative approaches to the creation of three Fragile X research centers. Many top scientists and clinicians in the country are preparing proposals, due July 23, that will compete for funding. By this time next year, three new centers dedicated to fragile X research will be operating in full gear. New information, such as the relationship between cancer rates and Fx, seems to come to light regularly now. This field of research is clearly busier now than at any time since the FMR1 gene was identified as the cause.

Although the impact of such information on the search for a treatment and cure is yet unknown, we do know that every bit of information is critical. In a recent article by Apoorva Mandavilli, of BioMedNet News, Dr. Jennifer Darnell, a leading fragile X authority, observed that over the past ten years or so, progress in the field has been slow. But, says Darnell, novel technologies and recent developments have dramatically increased the number of quality people working on the disorder. She told Mandavilli, "It used to be one new paper (on the topic) every 4 months, now it is six new papers every month."

Harris Hollin, CFXF founder, president and grandparent of fragile X affected Matthew, says,"This is a tremendously exciting time to be involved in the search for a cure for fragile X. The establishment of the new NIH research centers, the increasing numbers of researchers in the field, and the increasing awareness of the disorder around the world will someday bring an effective treatment and ultimately a cure to fruition. We will continue to work very hard for that day."