3 Researchers Honored at FRAXA Investigators Meeting

Katie Clapp

Over 150 scientists from around the globe gathered in Durham, New Hampshire, for FRAXA Research Foundation’s Investigators Meeting on September 21-24, 2008. They came from Australia, Canada, India, Turkey, the U.S., and eight European countries. Their common goal: “to share, collaborate and publish,” in the words of FRAXA’s Medical Director, Michael Tranfaglia, MD, to find effective treatments and a cure for Fragile X, the foremost inherited cause of mental retardation and autism. Most of the attendees were university-based professors, postdoctoral fellows, and graduate students who have FRAXA research grants. Also participating in the meeting were scientists from the National Institutes of Health (NIMH, NICHD, and NINDS), Neuropharm Group PLC, Hoffman LaRoche Inc., GlaxoSmithKline, Indevus, and Seaside Therapeutics, as well as 20 parents of Fragile X children.

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James Malter, at University of Wisconsin-Madison, FRAXA research grant

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

FRAXA Research Foundation

With a $130,000 grant from FRAXA Research Foundation over 2008-2009, Drs. James Malter and Cara Westmark at the University of Wisconsin studied the relationship between the Fragile X protein FMRP and APP, a protein important to the pathology of Alzheimer’s Disease. APP may also contribute to the pathology of Fragile X, and its major metabolite, Aß, may contribute to abnormal protein synthesis via a positive feedback loop. This project sought to restore normal dendritic protein synthesis in Fragile X mice by breaking into this loop.

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Ravi Allada, MD, at Northwestern University, FRAXA research grant

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

FRAXA Research Foundation

With an $80,000 grant from FRAXA Research Foundation over 2 years, Dr. Ravi Allada and his team studied at Northwestern University sleep behaviors in Fragile X fruit flies. These fruit flies are useful for several important reasons; not only do they have a good cognitive phenotype, they also have a clear disturbance of circadian rhythms. This is an important model for human hyperactivity and sleep disorders, and this group studied the underlying mechanisms in an effort to find treatments for the human conditions.

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Doris Buffett

Doris Buffett’s Challenge Grant to FRAXA: Over $1.5 Million for Research!

Katie Clapp

In the Spring of 2007, Doris Buffett, president of the Sunshine Lady Foundation, challenged FRAXA to raise $500,000 in new funds by November 1 which she’d match. The grand total of new donations received was $1,424,562, with an additional $98,755 in pledges payable by March 1st, for a total of $1,523,317! Together with Ms. Buffett’s initial $500,000 gift, FRAXA received over $3.5 million in new money — all for research aimed at curing or treating Fragile X. Thanks so very much to all of you who helped make this happen. More than 2600 people donated toward the Challenge – it is a true grass-roots community success.

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Randall Carpenter, MD, at Massachusetts Institute of Technology, FRAXA research grant

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

FRAXA Research Foundation

Randy Carpenter, MD Principal Investigator with Mark Bear, PhD, MIT Co-Investigator (2007) conducted a clinical development of mGluR5 antagonists to treat Fragile X Syndrome and Autism. Seaside Therapeutics received a major grant from the NIH, with additional funding from FRAXA and Cure Autism Now (CAN) to develop STX107, a selective mGluR5 antagonist, as a treatment for Fragile X. Unfortunately, Seaside has since discontinued development of STX107.

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Leonard Kaczmarek, PhD

Electrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse

FRAXA Research Foundation

With $80,000 in funding from FRAXA over several years, the Yale University team of Leonard Kaczmarek, PhD showed that loss of FMRP leads to an increased Kv3.1 potassium currents. This change impairs timing of action potentials in auditory neurons (and likely others throughout the brain).

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Carolyn-Beebe-Smith

Hypothalamic Pituitary Adrenal (HPA) Axis Dysregulation in Fragile X Syndrome

FRAXA Research Foundation

The hypothalamic pituitary adrenal (HPA) axis is our central stress response system. FRAXA Research Foundation awarded Dr. Carolyn B. Smith $62,000 in funding in 2005 to explore the HPA axis in Fragile X mice. The results of their study indicate that, in FVB/NJ mice, the hormonal response to and recovery from acute stress is unaltered by the lack of Fragile X mental retardation protein. Results published.

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Yong Zhang, PhD, at Chinese Academy of Sciences, FRAXA research grant

Defining Functional Domains of FMRP and Uncovering its Partners via Large Scale Mutagenesis in Drosophila

FRAXA Research Foundation

With $80,000 in funding from FRAXA Research Foundation in 2005 and in 2006, Dr. Yong Zhang and his team at the Chinese Academy of Sciences developed a way to find genes that suppress the Fragile X gene. FRAXA grants $40,000 (2006) and $40,000 (2005) by Xinda Lin show that FMRP is a widely expressed RNA-binding protein involved in RNA transport and translation. Intensive studies in the last decade have demonstrated that FMRP contains four RNA binding domains, but their actual functions are mostly untested. Meanwhile, a dozen or so protein partners and hundreds of mRNA targets interacting with FMRP have been identified, but again their functions are poorly understood.

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