Theodore Coutilish, Author at Fragile X Research

Newly Diagnosed with Fragile X – What Comes Next?

Theodore Coutilish Community February 22, 2018October 15, 2018

Jessica Haugen and Jeff Eliason received the phone call every parent dreads in October 2012. Their son’s pediatrician told them their son, Larry, then 1, had Fragile X syndrome (FXS) and “there’s nothing you can do about it.” The couple reacted similarly to how other newly diagnosed parents receiving these results. Denial. Discouragement. Depression.

Coming Full Circle – Kathy May Returns back to FRAXA

Theodore Coutilish FRAXA Updates November 15, 2017October 15, 2018

Co-Founder Kathy May Returns after Two Decades to Write Grants. It’s about discovering new forms of treatments to enhance the mental, emotional and social growth of those affected by Fragile X. “And there will be a cure,” she said. “FRAXA is the reason for this hope. I have come full circle to FRAXA and feeling more hopeful than I have in many years.”

Brain Imbalance Target of Dr. Erickson’s New Clinical Trial

According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In Fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with Fragile X

Targeting Serotonin Receptors to Treat Behavioral and Psychological Symptoms

Theodore Coutilish Canal, Clinton E. • Disease Mechanisms • Drug Repurposing • Mercer University • Research Updates August 1, 2017June 15, 2018serotonin

With a $90,000 grant from FRAXA Research Foundation awarded in 2017, Dr. Clinton Canal targets seratonin receptors. “There are 15 unique serotonin receptors (at least) and many of them impact the function of brain circuits that are impaired in neurodevelopmental and psychiatric disorders,” said Dr. Canal. “Results from this project could guide new drug discovery or drug repurposing for Fragile X.”

Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

Theodore Coutilish 2016 Grants • 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Treatment Targets • University of Wisconsin • Westmark, Cara May 23, 2017August 29, 2018Alzheimer's, amyloid precursor protein, autism, EEG, seizure, sleep, sound

FRAXA Research Foundation awarded $122,000 over 2016-2018 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.

Metformin, Diabetes Drug, Potential Fragile X Treatment

Theodore Coutilish Drug Repurposing • McGill University • Research Updates • Sonenberg, Nahum May 18, 2017January 9, 2019autism, cancer, matrix metalloproteinase, metformin, MMP9, Roche, sleep

“We treated mice with metformin and corrected all the core Fragile X deficits. We are optimistic about using metformin in human clinical trials. This is a generic drug with few side effects” says Nahum Sonenberg, PhD, James McGill Professor, Department of Biochemistry, McGill Cancer Center, McGill University.

Fragile X Nervous (System) Breakdown

Theodore Coutilish Disease Mechanisms • Research Updates March 21, 2017June 14, 2018mRNAs

“The occurrence and development of events by chance in a happy or beneficial way.” That’s how Lynne E. Maquat, PhD, describes the process of how her research extended to Fragile X syndrome to better understand it and ultimately find advanced treatments.

Did Tolerance Result in Fragile X mGluR5 Clinical Trial Failures?

Theodore Coutilish Bear, Mark • Massachusetts Institute of Technology (MIT) • Research Updates • Senter, Rebecca March 15, 2017June 14, 2018AFQ056, drug tolerance, glutamate, mGluR, mGluR5, Novartis, Roche

Although the clinical trials failed to show efficacy in the patient population and Novartis and Roche discontinued their Fragile X development programs, Dr. Senter has worked with Mark Bear, PhD to carefully review parent observations. Those caregiver reports suggested tolerance to mGlu5 antagonists antagonists developed quickly, consistent with some preclinical findings in the mouse model.

Fragile X Research Tackles High Anxiety – Peter Vanderklish

Theodore Coutilish Disease Mechanisms • Research Updates • Scripps Research Institute • Treatment Targets • Vanderklish, Peter February 9, 2017July 26, 2018hypersensitivity

Yes, we all know the signs of Fragile X anxiety: Ears begin turning red followed by incessant pacing, heavy breathing, stiffening body, flapping, jumping, avoidance or yelling. Sometimes, it’s the more severe screaming, pinching, scratching, biting and general tearing things up or, worse, the nuclear meltdown.

A Kinase Assay as a Biomarker for Fragile X Syndrome

Theodore Coutilish 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Kooy, Frank • University of Antwerp, Belgium January 15, 2017January 3, 2019autism, GABA, ganaxolone

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.

University of Cambridge Startup Healx is Rapidly Identifying Existing Drugs to Help Fragile X Patients

Theodore Coutilish Drug Repurposing • Healx • Research Updates January 9, 2017July 2, 2018Healx

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.

Trial and No Error: Better Outcomes for Clinical Trials in Fragile X Syndrome

Theodore Coutilish Clinical • Research Updates December 14, 2016July 2, 2018

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

NIH Investigator Carolyn Beebe Smith, PhD, Looks to Improve Sleep in Fragile X Syndrome

Theodore Coutilish Research Updates • Smith, Carolyn B. November 17, 2016July 2, 2018Alzheimer's, autism, baclofen, FDA, lithium, sleep

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. We are interested in understanding if sleep problems contribute to severity ofRead more

New Fragile X Clinical Trial for Children Launching in June 2017

Theodore Coutilish Berry-Kravis, Elizabeth • Clinical Trials • Research Updates • Rush University Medical Center October 31, 2016February 25, 2019AFQ056, mGluR5, Novartis

Rush University Medical Center Professor Elizabeth M. Berry-Kravis, MD, PhD, has launched and is recruiting participants for a large-scale clinical trial to study effects of AFQ056, an mGluR5 blocker, on learning in young children.

Mark Bear’s Goal: Disease-Modifying Treatments for Fragile X

Theodore Coutilish Bear, Mark • Massachusetts Institute of Technology (MIT) • Research Updates September 19, 2016July 30, 2018arbaclofen, autism, mGluR, mGluR5

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

Kimberly Huber, PhD, Explores Hyperexcitability in Fragile X Syndrome

Theodore Coutilish Huber, Kimberly • Research Updates • University of Texas at Southwestern September 6, 2016June 14, 2018autism, EEG, hyperexcitability, hypersensitivity, mGluR5, sound

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

Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome

Theodore Coutilish 2016 Grants • 2017 Grants • 2018 Grants • Barnes, Stephanie • Completed Research Grant • Osterweil, Emily • Research Updates • Treatment Targets • University of Edinburgh, Scotland August 15, 2016March 26, 2019ERK, glutamate, lovastatin, mGluR, NMDA, seizure

FRAXA Research Foundation funded a 2016-2017 Fellowship for Dr. Stephanie Barnes in the University of Edinburgh lab of Dr. Emily Osterweil. With this $90,000 award, the team is investigating NMDA signaling in fragile X syndrome mice.

Identifying Biomarkers for Fragile X Syndrome – A Study in Argentina

Theodore Coutilish Biomarkers • Research Updates August 1, 2016June 14, 2018autism, FRAXA-DVI, Rett syndrome

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

Cornell University Researcher Looks to Restore Fragile X Protein in Neurons

Theodore Coutilish Cornell University • Research Updates July 8, 2016July 26, 2018

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

Brain Revolution: French Scientists Bardoni and Maurin Study FMRP

Theodore Coutilish Bardoni, Barbara • Maurin, Thomas • Research Updates July 5, 2016January 14, 2019autism

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

Memory Lane: New Research to Improve Memory in Fragile X Mice

Theodore Coutilish Research Updates June 27, 2016February 12, 2019autism, STEP (STriatal-Enriched protein tyrosine Phosphatase)

University of Texas at Austin Researchers Daniel Johnston, PhD, and Jennifer J. Siegel, PhD, explore ways to Iimprove memory in Fragile X mice

Achieving Predictability: Developing Biomarkers for Fragile X Patients

Theodore Coutilish Research Updates June 20, 2016July 30, 2018Rett syndrome

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 biomarkers to examine new therapeutics. Their current research isRead more

University of Michigan researcher Peter Todd, MD, PhD, Aims to Selectively Turn the Fragile X Gene Back on in Human Cells

Theodore Coutilish Research Updates • Todd, Peter • University of Michigan June 13, 2016July 30, 2018CRISPR, FXTAS, sound

Targeted transcriptional reactivation of FMR1 in Fragile X Syndrome stem cells Peter Todd MD, PhD Principal Investigator Jill Haenfler PhD Postdoctoral Fellow University of Michigan Medical Center $45,000 in 2016 renewed for $45,000 in 2017 Swimming Upstream Fish like salmon are born in fresh water streams and rivers. When the time comes for them to breed, they return to the stream of their birth to lay eggs in the same spot where they were born. To accomplish this, they must swim upstream against the current or flow of the stream. Taking a page out of the salmon DNA playbook, University of Michigan scientists Peter Todd, MD, PhD, and postdoctoral fellow Jill Haenfler, Ph.D., are exploring unchartered waters to find a cure for Fragile X Syndrome. The researchers are adapting CRISPR research to reactivate the FMR1 gene, which provides instructions for making a protein called FMRP — needed for normal brainRead more

Meltdown no more? Targeting Hypersensitivity in Fragile X

Theodore Coutilish Research Updates June 5, 2016July 26, 2018hypersensitivity, sound

University of California Researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, Explore Drug Combinations to Limit Hypersensitivity to Sounds in Fragile X Mice We’ve all been there. Our child with Fragile X hears something and becomes excited. Very excited. Hand flapping follows with non-stop jumping and ear-piercing squawking. Nothing helps. No meds. No iPhone. No magic toy. Several minutes go by. Sometimes longer. How many times have you apologized in a grocery store — or restaurant — or at the mall? Wouldn’t it make our lives better if this unpredictable excitability was minimalized or eliminated? That’s the premise behind research being conducted at University of California, Riverside. Principal Investigator Khaleel Razak, PhD, and postdoctoral fellow Jonathan W. Lovelace, PhD, are studying mice genetically altered to mimic the genetic characteristics of humans with Fragile X Syndrome. Their focus is on the mouse brain’s electrical activity when different kinds of soundsRead more

Researcher David Nelson, PhD, Explores New Cell Strategies for Fragile X Syndrome, FXTAS and FXPOI

Theodore Coutilish Nelson, David • Research Updates May 31, 2016July 26, 2018FXPOI, FXTAS

David Nelson, PhD; With Yanghong Gu, PhD; and Ruiting Zong, PhD It’s rare to find a researcher working on the Big Three — Fragile X Syndrome (FXS), Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI). Then again, David Nelson, PhD, is the rare bird. Nelson is a professor of Molecular and Human Genetics, Baylor College of Medicine, and director of Baylor’s Graduate Program in Integrative Molecular and Biomedical Sciences. He has been involved in FXS research since the late 1980s where he helped identify the mutation and the FMR1 gene. These days, researchers in Nelson’s lab at Baylor are studying FXS, FXTAS and FXPOI using mouse models. The goals are to understand which cell/tissue types contribute to these disorders, which genes are involved and what can be done to modify the course of the disorder as a result of these findings. “We are developing mice thatRead more

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