FRAXA Research Foundation will fund over $1 million in research aimed at finding new and improved treatments — and ultimately a cure — for fragile X syndrome. Research applications are due February 1, 2018. Clinical trial proposals are accepted anytime. Every year we receive proposals from scientists worldwide seeking funding for the most cutting-edge fragile X research.
With a $90,000 grant from FRAXA Research Foundation over 2017-2018, Dr. Frank Kooy at the University of Antwerp, Belgium, is investigating whether phosphorylation abnormalities are a suitable biomarker for the fragile X syndrome. $90,000 Grant Drs. Anke Van Dijck (FRAXA fellow, ganaxolone clinical trial), Ilse van der Werf, Geert Vandeweyer, Elisa Cappuyns (FRAXA fellow, this study), Frank Kooy R. Frank Kooy, PhD Principal Investigator University of Antwerp 2018 FRAXA Research Grant $90,000 over 2 Years “This Is Your Brain on Drugs” was a large-scale US anti-drugs TV campaign promoted by Partnership for a Drug-Free America in 1987. The purpose was to discourage use of illegal drugs by showing an egg frying in a pan simulating what drugs can due to your brain. It was incredibly simple and effective. TV Guide named it one of the top 100 commercials of all time. University of Antwerp researcher Frank Kooy, PhD, has a completely different updateRead more
FRAXA awarded $44,000 to Healx in 2017 for drug repurposing to find new treatments for fragile X syndrome. The results of this study include eight top “hits” which show promise for fragile X. FRAXA is further investigating these hits.
Johns Hopkins researcher Christina Timmerman, PhD, searches for a less subjective method to determine if a drug is working in patients with fragile X syndrome Many parents of children with fragile X syndrome were crushed when promising drug trials were unexpectedly stopped a few years ago because subjective behavior-based outcome measures did not justify continuing the trials. The strong feelings linger today. If all goes well with Christina Timmerman’s research, future drug trials may be able to continue with additional metrics for assessment, until there are advanced treatments or even a cure for Fragile X syndrome. This will be welcome news to parents. Timothy Gamache, graduate student, and Christina Timmerman, PhD “We hope a more quantitative outcome measure, such as the proposed microRNA biomarker, would allow for a less subjective method to determine if a drug is working or not,” said Dr. Timmerman, Postdoctoral Fellow, Lab of Mollie Meffert, DepartmentRead more
FRAXA postdoctoral fellow, Rachel Sare, PhD, and Carolyn Beebe Smith, PhD Our sons with Fragile X Syndrome typically go to bed early and rise early. Sometimes they jump on us while we are sleeping at 3 a.m., excited to start their day. For heaven’s sake, whY, wHY, WHY? The answer may come from Carolyn Beebe Smith, PhD, senior investigator, Section on Neuroadaptation and Protein Metabolism, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland. She is studying why children, in particularly boys, with FXS have problems sleeping. “We know sleep is important for many aspects of brain function,” said Dr. Smith, who received a PhD from the University of London where she studied the chemical pathology of Alzheimer’s for which she was awarded the Queen Square Prize. “In studies of healthy mice, we have shown restricted sleep during brain development can result in long-lasting changes in behavior. WeRead more
Rush University Medical Center Professor Elizabeth M. Berry-Kravis, MD, PhD, begins a large-scale clinical trial to study effects of AFQ056, an mGluR5 blocker, on learning in young children BERRY tenacious! You can say a lot about Elizabeth M. Berry-Kravis, MD, PhD: • University of Notre Dame and University of Chicago educated. • Professor of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center. • Board certified in neurology with a special qualification in child neurology. • Expert in Fragile X syndrome and other neurogenetic diseases. You can also say she’ll talk your ears off. Literally! And much of it may go over your head. Yes, she often talks in industry jargon. Plenty of it. OK, we get it. She’s smart. Super smart. She’s caring. Super caring. She’s knowledgeable. Super knowledgeable. But did you know she’s tenacious? Incredibly, super-duper, berry tenacious? Good thing for us she’s on our side. No doubt herRead more
Massachusetts Institute of Technology researcher Mark Bear, PhD, sees success developing disease-modifying treatments for Fragile X syndrome and other developmental brain disorders Finally, hope. And it comes from the lab of Mark Bear, PhD, Picower Professor of Neuroscience, The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology Dr. Bear is building on the “mGluR theory” and applied insights gained by the study of fragile X and other genetically defined causes of intellectual disability and autism with some success. His goal is to discover and facilitate the development of disease-modifying treatments for fragile X and other developmental brain disorders. “Neurons in the brain communicate with each other at specialized junctions called synapses,” said Bear, who earned a BS from Duke University and a PhD in neurobiology at Brown University. “Such modifications are the basis for memory storage in the brain, and go awryRead more
With a 2015-2016 $90,000 grant from FRAXA Research Foundation, Dr. Herve Moine and Dr. Andrea Geoffroy aim to uncover the exact role of FMRP and to test a novel possible means to correct for FMRP absence in the mouse model of fragile X syndrome.
With a $90,000 grant from the FRAXA Research Foundation from 2015-2016, Dr. Laurie Doering and Dr. Angela Scott at McMasters University studied astrocytes in fragile X. Astrocytes, brain cells which support neurons, do not transmit signals. Several treatment strategies for fragile X have been proposed based on correction of “astrocyte phenotypes”.
Twenty-two is a terrifying birthday for the parent of a child with Fragile X Syndrome. It marks the end of formal schooling. We were daunted by this transition. Our son, Ryan, had been attending a residential school, New England Center for Children, for the previous 12 years. For almost all his waking hours, Ryan had one-on-one staffing and five additional staff nearby in case of behavioral outbursts. On community outings he was usually accompanied by at least three staff members. Now we were about to move him to Shared Living Collaborative (SLC) where he would have just one-to-one daytime staffing and two-to-one staffing in his residential placement, with no immediate, additional staff for help during a behavioral incident. We were tense and on edge about how this new arrangement would work. Rocky Beginnings This placement did not start out well. SLC seriously questioned whether Ryan could continue in the program. We approached a crisis point at SLC,
With $366,100 in grants from FRAXA Research Foundation, these investigators at the University of Orleans studied sensory abnormalities in fragile X mice and test the ability of a class of drugs, BK channel openers, to rescue these abnormalities.
With $375,000 in grants from the FRAXA Research Foundation since 2009, Dr. David Nelson has developed an impressive array of advanced mouse models of fragile X, at Baylor College of Medicine. These models are available to investigators worldwide on request. This resource has been essential for a broad, rapid distribution of fragile X and related gene mouse models and has increased the pace of fragile X research.
With a $90,000 grant from FRAXA Research Foundation in 2015-2016, Dr. Mollie Meffert and Dr. Christina Timmerman at Johns Hopkins University studied groups of small RNAs, known as microRNAs, which are greatly decreased in brain tissue of fragile X mice vs. normal controls.
With a $90,000 grant from the FRAXA Research Foundation, Dr. Lynne Maquat and Dr. Tatsuaki Kurosaki will investigate nonsense-mediated mRNA decay (NMD) in fragile X. NMD is a “housekeeping” process that cells use to prevent faulty proteins from being made. But there is too much of it in fragile X syndrome. There are already available drugs that suppress NMD – including caffeine.
Sensory Overload Ever wonder why your child with fragile X suddenly screams for no apparent reason or jumps and flaps uncontrollably seemingly for hours? You got it: hyperexcitability. But what exactly causes it? And what can fix it? Kimberly Huber, PhD, is working long and hard in her lab to answer those questions. Dr. Huber, professor, Neuroscience, UT Southwestern Medical Center, is seeking to understand how FMRP regulates connections between brain cells, called synapses, and the function of brain circuits, which are several connected brain cells. Her current focus is the study of synapses and brain circuits in the mouse that mediate sensory perception, including perception of touch and sound. She aims to understand the cellular and molecular mechanisms by which loss of FMRP causes hyperexcitable sensory circuits. The goal: to develop targeted therapeutics that can restore normal brain function and reduce sensory hypersensitivity. “Sensory brain circuits are overactive, or hyperexcitable,Read more
With a $90,000 grant from FRAXA Research Foundation in 2016, Dr. Carolyn B. Smith and Dr. Rache Sare at the National Institute of Mental Health investigated the basis of sleep problems in fragile X syndrome.
University of Edinburgh researcher Emily Osterweil, PhD, probes the brain’s biochemistry to correct imbalances We know the “X” in fragile X refers to the X chromosome, but it could just as easily refer to the unknown.Such as why do people with fragile X have an excessive production of new proteins in their brains that lead to imbalances? That question is being dissected in the lab of Emily Osterweil, PhD, chancellor’s fellow, Centre for Integrative Physiology, University of Edinburgh, UK. Dr. Osterweil is using insights from previous experiments to identify new treatment strategies for fragile X. Her goal is to understand the biochemistry of the brain better. She aims to correct those imbalances by making new proteins from existing messenger RNA, to snap neurons into “remembering” what happened to them before. FRAXA Fellowship Awarded May 2016, Renewed May 2017 Enhancement of NMDA receptor signaling for the treatment of fragile X syndromeRead more
bio·mark·er, noun, a distinctive biological or biologically derived indicator of a process, event, or condition. Doesn’t help? Well, it’s perfectly clear to Argentinian researchers Patricia Cogram, PhD, and Paulina Carullo, MD, from the FLENI Institute in Buenos Aires, Argentina. They understand there is an urgent need for validated biomarkers after recent fragile X syndrome clinical trials have failed on their primary endpoints. “Biomarkers are key to learning more about their correlation with clinical and behavioral characteristics across diverse developmental stages in fragile X syndrome,” said Dr. Cogram, the principal investigator of FRAXA’s Drug Validation Initiative (FRAXA-DVI) to test preclinicaly potential compounds for FXS. “We are searching for biomarkers that could potentially be used for clinical trials for treatment in children, teenagers, and adults with fragile X.” Cue parents. Yes, you. Targets: your Child’s Cognitive, Behavioral and Emotional Impairments Dr. Cogram and Dr. Carullo are looking for families of children withRead more
Rolling Stone Magazine published a powerful article by award-winning writer, Paul Solotaroff, featuring his son, Luke. Luke is 17 years old and has fragile X syndrome. What will happen when Luke becomes an adult and no longer has a right to schooling? During his research, Paul visited the Shared Living Collaborative in Merrimac, MA. This is the program where my son, Andy, age 28, works (and plays) during his days. Perhaps it can serve as a model for other programs around the country. Read the article here: http://www.rollingstone.com/culture/features/lukes-best-chance-one-mans-fight-for-his-autistic-son-w431012 Read about Shared Living Collaborative here: https://www.fraxa.org/turning-22-fragile-x-adults/Read more
A new company has launched that will invest tens of millions in reactivating the fragile X gene. With $55 million in investment funds, Fulcrum Therapeutics in Cambridge, MA, aim to develop small molecules to control gene expression. These potential new treatments would be based on controlling genetic on- and off-switches of disease genes. Fulcrum will start with two diseases: fragile X syndrome and a rare form of muscular dystrophy. FRAXA is funding one of the founding scientists, Jeannie Lee, MD, PhD, of Harvard University, and has been working with others on the new Fulcrum team. In fact, Dr. Lee will be our speaker at the FRAXA Fall Fling fundraiser this September 30, in Cambridge, Mass. Together, with your support and with support from new companies like Fulcrum, with support from FRAXA’s Nobel Laureate-laden Scientific Advisory Board and passionate Board of Directors, we are united more than ever in finding a cure for fragile
Cornell University researcher Samie R. Jaffrey, MD, PhD and Postdoctoral Fellow Jiahui Wu, PhD were awarded $90,000 by over 2016-2018 by FRAXA for their project, Which is the right FMRP for Therapeutic Development of Fragile X Syndrome? Here's the Rub When researchers develop effective drugs that reactivate FMRP — the protein that is normally silenced in fragile X — what in the world will they do next? So ponders Cornell University researcher Samie R. Jaffrey, MD, PhD. Jaffrey, professor, Pharmacology, Weill Cornell Medical College, Cornell University, knows reactivating FMRP will lead to many important questions, such as: Which cell type needs FMRP? How much FMRP protein is needed to restore brain function? Where in the brain will FMRP protein be needed? Where in a neuron will the FMRP needs to be expressed? Will FMRP protein be created in the correct quantity and location to work as a therapeutic? In anticipationRead more
Dr. Maurin and Dr. Bardoni were awarded $90,000 over two years from FRAXA Research Foundation for their project, “Modulating cAMP And cGMP Levels As A New Therapeutic Approach For FXS”, in May 2016. They aim to gain a better understanding of how the brain develops and functions Like snowflakes, people with Fragile X Syndrome are not all alike. Some respond differently to the same drugs, as previous fragile X research has shown. Understanding this phenomena is leading French scientists Barbara Bardoni, PhD, and Thomas Maurin, PhD, to identify new drugs to improve treatments in patients with fragile X. Among the proteins they have identified, some are known to control brain function and development. This has helped identify a set of candidate proteins for which there are pre-existing active chemical compounds that target their activity. Using these compounds in vitro may revert some FXS hallmarks. “Access to different drugs will allow some flexibility inRead more
The University of Texas at Austin Researchers Daniel Johnston, PhD, and Jennifer J. Siegel, PhD, Explore Harnessing Nature to Improve Memory in Fragile X Mice We all forget things at times. How many times have you misplaced your car keys or forgotten the name of a person you just met? Now think how you would feel if your memory was stunted from birth? Researchers at The University of Texas at Austin know that people with fragile X syndrome have working memory deficits because of a dysfunction with the front part of their brain. What they recently discovered is how a network of neurons is able to, on occasion, compensate for the loss of FMRP (fragile X mental retardation protein) to regain memory function. A Different Approach “We are taking a slightly different approach to treating and potentially curing fragile X,” said Johnston, professor, Department of Neuroscience, College of Natural Sciences,Read more
Dr. Heather Bowling, Dr. Eric Klann, Dr. Aditi Bhattacharya New York University scientists make progress developing biomarker signatures and cataloging the types of fragile X patients who will most likely benefit from new therapies Take a closer look at your son or daughter with fragile X syndrome. If you meet another child with fragile X syndrome, chances are he/she may seem totally different to you, yet everyone is united under a FXS diagnosis. Discovering the biological reasons behind these differences is key to identifying which children will respond to what treatment. But how do you find the ‘prediction formula’? New York University scientists may soon know. Co-Principal Investigators Eric Klann, professor, NYU Center for Neural Science, and Aditi Bhattacharya, Independent Investigator, Center for Brain Development, inStem, Bangalore and Heather Bowling, PhD, a post-doc fellow, are working together in the second year of a FRAXA-funded study to develop reliable and relevant biomarkersRead more