CFXF AWARDS CONFERENCE
TRAVEL GRANTS

Over the summer of 2005, using our Conference Travel Awards mechanism, CFXF sponsored Chiara Carosi's attendance at “The Neurobiology of Fragile X” Conference, which was held July 17-19, 2005 at Arden House Conference Center in Harriman, NY.

Chiara is a second year PhD student in Neuroscience at the University of Rome Tor Vergata and is working in the lab of Dr. Claudia Bagni. Since the start of her PhD studies, Chiara has been very interested in studying the molecular basis of fragile X syndrome, specifically in the structure of the FMR1 gene and mRNA. The meeting, based on four main sessions: Neuronal RNA Metabolism, Regulation of Synaptic Plasticity, Regulation of Dendritic Protein Translation, Global Effects of the Fragile X Mutations was very useful to Chiara and her work. Her attendance at the conference gave her an opportunity to further develop her on going project and to network with other outstanding researchers in the field. Chiara is using the contacts she made at the conference to plan short-term visits to other labs and to formulate her postdoctoral plans.

Vaishali Handa, a postdoctoral fellow with Dr. Barbara Wright in the Division of Biological Sciences at the University of Montana, received a CFXF Conference Travel Award for her attendance at the upcoming American Society of Human Genetics Conference in Salt Lake City, Utah, on October 26-October 29, 2005. Vaishali has been invited to make a poster presentation, entitled, “Predictions and analysis of mutable sequences flanking the repeats in Friedrich's ataxia and fragile X syndrome”. Vaishali and her fellow lab mates have developed a novel computer algorithm called “mfg”, which is capable of predicting somatic mutations in 5' and 3' regions flanking the CGG repeat in the fragile X gene and also in other disorders containing triplet repeats.

CFXF CO-SPONSORS INTERNATIONAL
FRAGILE X MEETING

CFXF joined as a co-sponsor of the 12th International Workshop on Fragile X and X-linked Mental Retardation in Williamsburg, VA

on August 26-29, 2005. Two CFXF Scientific Advisors, Dr. Karen Usdin and Dr. Giovanni Neri represented CFXF at the conference. The meeting, a heavily science oriented one, is held every other year and is organized by committee. This year's meeting was chaired by Dr. Charles Schwartz and Dr. Roger Stevenson and sponsored by the Conquer Fragile X Foundation, the Fragile X Research Foundation, the National Fragile X Foundation and the Greenwood Genetic Center. More than 75 experts from around the globe attended the conference. At the conference, data was presented that sheds light on a variety of aspects of fragile X syndrome and the symptoms experienced by some carriers of permutation alleles. The conference was a forum for lively panel discussions with audience participation and planning for future fragile X research priorities. The 13th International Workshop on Fragile X and X-linked Mental Retardation will be held in Venice, Italy October 4-7, 2007.

Our Parent’s Corner author, Sharon Berry lives in Cape Coral, Florida. Her son David is now 24 and living at home. He attends a local day program, loves cars, football and the Three Stooges.

My son, David, was born in 1981 and as he grew, many, many delays in his development became apparent. He was the cutest child I had ever seen, with the most beautiful smile and golden curls. Of course I thought so, I’m his mother. But I was unable to find a doctor that could figure out why he had seizures, couldn’t talk like the “other kids”, and couldn’t go to school like the “other kids”. I was constantly being told that David was “retarded”, or that David was autistic. I was not comfortable with any of these answers. One day, I was on a lunch break at work and picked up a magazine to read. I found the article about a mysterious condition called “Fragile X Syndrome” very enlightening.

Everything described in this article, which was printed years earlier, seemed to be the answer to David’s questionable behaviors and illnesses. But, I had a very difficult time finding any medical professional to listen. I was his mother; only, this time I wasn’t describing his blue eyes and his cute little checks. I was worried about his future, and mine.

David was a pleasant little boy who had violent outbursts every once in a while. He was being fed Ritalin, Mellaril and anything else that would calm him down or shut me up. I was a single parent who had little professional help with a child like David. He hit me, scratched me, pulled my hair but at other times, David was the most affectionate and loveable boy one would ever know. As he got older, his tantrums and violence got worse. I didn’t know what to do anymore and the frustration for me and for David was getting hopeless. Sadness was becoming my daily mood. He was finally taken to a residential school, where his roommate looked almost exactly like my own son. I was asked if I would allow for him to be tested at the Berwyn Institute. The administrator thought that since he resembled Neil, that maybe David also could be a victim of Fragile X Syndrome. I jumped for joy! Not because my son had a condition but that somebody finally agreed with me and that I wasn’t nuts. And, that maybe now, he could get assistance and an education!

On May 23, 2003, that wish finally came true. My son graduated from Charlotte Harbor School, a school for special students, with honors and awards. He even made the front page of the local newspaper, when a picture of him kissing me while I was shedding tears
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