University of Kansas BRAIN Lab Seeking Postdoctoral Fellow

University of Kansas BRAIN Lab Seeking Postdoctoral Fellow

The Life Span Institute at the University of Kansas currently is seeking one postdoctoral fellow interested in advancing their research skills and progressing towards a career as an independent, externally funded investigator studying autism spectrum (ASD) or related neurodevelopmental disorders (e.g., Fragile X syndrome, Down syndrome).

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Overcoming the Placebo Effect in Fragile X Clinical Trials

Overcoming the Placebo Effect in Fragile X Clinical Trials

In a placebo-controlled clinical trial, some participants are given an experimental medication, while others are given a placebo. Participants do not know whether they are taking medicine or placebo. In theory, this can allow researchers to rule out the placebo effect by comparing outcomes among the two groups. But, per Wexler (2020) “having a strong placebo effect can obscure any real effect of the therapy being investigated”.

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Auditory System Dysfunction and Drug Tolerance in the Fragile X Mouse

Auditory System Dysfunction and Drug Tolerance in the Fragile X Mouse

FRAXA Research Foundation has awarded $90,000 over 2019-2021 to principal investigator Dr. Jay Gibson and postdoctoral fellow Dr. Andrew Holley at the University of Texas Southwestern Medical Center. They are investigating circuit mechanisms for auditory system dysfunction and drug tolerance in the Fragile X mouse model.

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Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse

Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse

In this Fragile X research webinar we hear from Devin K. Binder, MD, PhD, Professor, University of California at Riverside Medical School and Khaleel Razak, PhD, Professor, University of California at Riverside as they present about Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse.

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Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse

Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse

This is the second in a series of webinars focused on current topics in Fragile X research. Devin K. Binder, MD, PhD, Professor, University of California at Riverside Medical School and Khaleel Razak, PhD, Professor, University of California at Riverside will present.

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Brain Organoids and Therapeutic Development for Fragile X and Other Rare Diseases

Brain Organoids and Therapeutic Development for Fragile X and Other Rare Diseases

This is the first in a series of webinars focused on current topics in Fragile X research. In this webinar we hear from Alysson R. Muotri, PhD, Professor at University of California San Diego Stem Cell Programand Fabio C. Tucci, PhD, Chief Operating Officer and co-founder at Epigen Biosciences, Inc.

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Ketogenic Diet Eases Symptoms in Fragile X Male Mice

Ketogenic Diet Eases Symptoms in Fragile X Male Mice

The Westmark laboratory continues to study sleep and rest-activity cycles in Fragile X mice as a potential outcome measure that correlates between preclinical and clinical research. The analysis of sleep EEG in the mice has proven more labor intensive than they anticipated, but the team is collaborating with Dr. Rama Maganti’s laboratory at UW-Madison on the development of computer scrips to speed up the analysis.

Fragile X Researcher, Cara Westmark, PhDRead more

fNIRS to Measure Treatment Response in Young Children with Fragile X

fNIRS to Measure Treatment Response in Young Children with Fragile X

FRAXA Research Foundation has awarded a $90,000 research grant to Dr. Craig Erickson and Dr. Elizabeth Smith at Cincinnati Children’s Hospital to test functional near-infrared spectroscopy (fNIRS), in children who have Fragile X syndrome. fNIRS is safe, non-invasive, and easily-tolerated. It uses light sources and sensors on the scalp to build a heat map of the brain in action.

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Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery

Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery

Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.

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Should You Participate in a Fragile X Clinical Trial?

Should You Participate in a Fragile X Clinical Trial?

A Fragile X clinical trial of a new PDE4D allosteric inhibitor from Tetra Therapeutics is nearly complete. Right now there are 3 remaining spots open to males 18-45 years of age with Fragile X syndrome. Dr. Elizabeth Berry-Kravis at the Rush University Medical Center in Chicago is leading this trial. The drug being studied has a unique mechanism of action that might improve cognitive and memory function.

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Gene Therapy Translational Studies for Fragile X Syndrome

Gene Therapy Translational Studies for Fragile X Syndrome

With this $90,000 award from FRAXA Research Foundation, Drs. Ernest Pedapati, Christina Gross, and student Lindsay Beasley will pursue preclinical gene therapy approaches using AAV (adeno-associated virus) vectors for treating Fragile X syndrome at Cincinnati Children’s Hospital. Dr. Craig Erickson elaborates about this in this video.

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Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at Boston Children’s Hospital are recruiting children ages 2-7 years with Fragile X syndrome to join a study of brain differences using non-invasive EEG.

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Recruiting: Clinical Trial of Metformin for Fragile X Syndrome

Recruiting: Clinical Trial of Metformin for Fragile X Syndrome

Metformin is commonly prescribed to control high blood sugar in type 2 diabetes. With a $50,000 grant from FRAXA Research Foundation, Dr. Artuela Çaku and Dr. Francois LePage are conducting an open-label clinical trial of metformin for children and adults with Fragile X syndrome, at the University of Sherbrooke in Canada.

Galarneau lab teamRead more

Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing of potential new Fragile X treatments. FRAXA has funded FRAXA-DVI for $50,000 or more per year since 2012.

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Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

With this $20,000 award from FRAXA Research Foundation, Dr. Vanderklish and collaborators at Scripps Research Institute, the University of Chile, and the FLENI Institute in Argentina are analyzing patterns in gene expression in blood cells of patients with Fragile X syndrome. They are using “transcriptomics” which can produce a time-sensitive signature of an individual person. This is the first time that all these different levels of study – from transcriptomics to behavior – have been done for individual patients with Fragile X.

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Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2018-2019, Drs. Devin Binder, Iryna Ethell, and Patricia Pirbhoy at the University of California at Riverside aim to understand – and reverse – hypersensitivity to sound in Fragile X syndrome.

Devon Binder, PhD; Iryna Ethell, PhD, Patricia Pirbhoy, PhD, at UC Riverside School of MedicineRead more

FRAXA Funded Researchers Present at MA Fragile X Conference

FRAXA Funded Researchers Present at MA Fragile X Conference

On Saturday Boston Children’s Hospital (BCH) hosted a Fragile X educational conference. Success Strategies for Individuals and Families Impacted by Fragile X and two of our funded researchers, Dr. Craig Erickson, and Carol Wilkinson, MD, PhD, presented giving an update on their current Fragile X clinical trials. Both being funded by FRAXA.

Fragile X ConferenceRead more

In Their Own Words: Reports From the International Fragile X Workshop

In Their Own Words: Reports From the International Fragile X Workshop

The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring Fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words, with brief updates from researchers investigating Fragile X.

18th International Fragile X and Related Neurodevelopmental Disorders Workshop, Quebec, CanadaRead more

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

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.

Craig Erickson labRead more

Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

With a $90,000 grant from FRAXA Research Foundation awarded over 2016-2017, University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, are exploring drug combinations to limit hypersensitivity to sounds in Fragile X mice.

Funding opportunities - FRAXA investigatorsRead more

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.

Neural Markers of Fragile X: A Powerful New Tool for Clinical TrialsRead more