The 2018 SCN8A Grant is Awarded to: Dr. John Schreiber of Children's National Medical Center
The Cute Syndrome Foundation is thrilled to share the awarding of a clinical research grant, originally announced at our 2018 SCN8A Clinician, Researcher, and Family Gathering, to Dr. John Schreiber and Children's National. The vision for this grant developed after the devastating loss of two infants in our SCN8A community last fall, and we are grateful to Dr. Schreiber for working with us to look for ways to improve access to expert advice in the treatment of individuals with SCN8A. The official announcement follows: Children’s National Medical Center and The Cute Syndrome Foundation are delighted to enter a 6-month pilot research project to evaluate education and access to expert care for SCN8A. Led by Dr. John Schreiber, Neurologist and Assistant Professor of Neurology and Pediatrics at George Washington University, Children’s National will develop a focused effort to provide families and clinicians with the Clinician Information and Reference Guide—developed by The Cute Syndrome Foundation— and attempt to uncover the barriers to accessing expert advice. The study will result in a better understanding of those factors that prevent access to consensus recommendations and expert care. It will also increase provider knowledge of SCN8A-related disorders, improve utilization of appropriate anti-seizure therapies, and may eventually reduce mortality. As the first ever study of its kind, this pilot project will pave the way for future interventions that will raise the profile of SCN8A-related disorders, facilitate collaborative care and research, improve patient outcomes, and reduce mortality.
Thank you, Dr. Schreiber, for your dedication to the SCN8A community!
John Schreiber, MD, at TCSF's 2018 SCN8A Clinician, Researcher, and Family Gathering
The 2017 SCN8A Grant is Awarded to: Ted Cummins, PhD, Purdue University Indianapolis, and James Marrs, PhD, of Indiana University School of Medicine
It comes with much excitement and hope for our children's futures that we share with you the details of The Cute Syndrome Foundation and Ajude o Rafa - Epilepsia SCN8A's joint $40,000 research granting process.
After reviewing a number of highly competitive applications, we, along with the help of our Scientific Advisory Board, have selected Ted Cummins, PhD and James Marrs, PhD, of Indiana University-Purdue University Indianapolis and Indiana University School of Medicine for their proposal to incorporate SCN8A into zebrafish and test the effects of various pharmaceutical compounds on seizures in their fish model.
Dr Cummins explains the work, "Mutations in SCN8A can lead to seizures and other serious medical problems. Some patients respond to available drugs, but many do not achieve adequate therapy or suffer side effects. Better treatments are needed. We propose to develop zebrafish models of several different SCN8A mutations. Zebrafish models can be inexpensively and rapidly developed compared to mouse models. They can be used for fast screening of potential drugs in automated assays. Because this high throughput screening is done with intact vertebrate animals, it has tremendous advantages over test-tube and cell-based screens. Our long-term vision is to develop a specific model for eachSCN8A mutation to help identify personalized treatments for patients with specific SCN8A mutation."
We are especially excited as this introduces into our community a new animal model for SCN8A that has never before been used in our population. This is very promising work and we are excited for Dr Cummins' lab to begin the project! We were very fortunate to have had the assistance of a very well-rounded 2017 9-member Scientific Advisory Board made up of SCN8A researchers, clinicians, and parents in making this decision and look forward to the information our community will gain as a result of the grant. A special thanks for their contribution and guidance:
Michael Hammer (Researcher/Parent) Miriam Meisler (Researcher) Manoj Patel (Researcher) John Schreiber (Clinician) Phillip Pearl (Clinician) Princess Costello (Parent) Daniel Braz (Parent) Hillary Savoie (Parent) Juliann Bradish (Parent)
The 2016 SCN8A Grant is Awarded to: Dr. Miriam Meisler of the University of Michigan
In January 2016, as a collaborative effort with our Brazilian partners, Ajude o Rafa, The Cute Syndrome Foundation awarded $25,000 the 2016 SCN8A Epilepsy Research Grant to Dr Miriam Meisler of The University of Michigan.
Dr. Meisler said of her work: "The discovery that mutations of SCN8A are responsible for many cases of pediatric encephalopathy was a very important step forward towards identification of effective treatment. Unfortunately, many patients do not respond well to existing medications.
In order to move forward, we are working on two experimental systems to identify the functional effects of different mutations and to test the effectiveness of new treatments. First, mutant channels are tested in cultured neuron-derived cells to find out which aspect of channel function is abnormal. Second, we generate mouse models of selected mutations representing the three functional classes observed thus far, to find out which neurons are most susceptible and to provide a pre-clinical test system for novel treatments.
Both of these research directions will contribute to development of the next generation of treatment for children with these devastating genetic disorders caused by mutations of SCN8A."
Watch our award announcement video:
The 2015 SCN8A Grant is Awarded to: Dr. Michael Hammer of the University of Arizona
The grant will support the groundbreaking registry and interactive SCN8A website being developed at the University of Arizona under the dedicated efforts of Dr. Michael Hammer. The goal of the project is to make available important information about the clinical features, causes, and treatments of SCN8A epileptic encephalopathy to families, doctors, and researchers. The website will house and curate information on clinical variability, genetic variants, anti-epileptic drugs, and current research findings associated with SCN8A epileptic encephalopathy. The grant will also support assistance for families compiling the vital but complex data for inclusion in the database.
The 2014 international PCDH19 was granted to: Dr. Maria Passafaro of the CNR Institute of Neuroscience in Milan, Italy
Insieme per la ricerca PCDH19 - ONLUS and The Cute Syndrome Foundation co-funded the first internationally-funded competitive PCDH19 Epilepsy research grant. The two-year grant, in the amount of 100,000 Euros was awarded to the CNR Institute of Neuroscience Milan, Italy for Dr. Maria Passafaro and Dr. Elena Battaglioli's proposal to unravel the molecular mechanism of mutated PCDH19 function.
Their work shows great promise because it addresses a different molecular mechanism for PCDH19 dysfunction. Looking at mechanisms to tell us how best to treat a specific cause of epilepsy is important if we want to find a targeted treatment. This proposal also includes some very innovative and exciting work using AON exon skipping, which would be the first use of this method in epilepsy of which our reviewers are aware.
University of Michigan's Dr. Jack Parent's PCDH19 iPS Cell Research
Insieme per la Ricerca PCDH19 and The Cute Syndrome Foundation awarded a $20,000 grant to Dr. Jack Parent of the University of Michigan for his research using PCDH19 iPS cells. Dr Parent was a runner-up for our 2014 PCDH19 research grant (awarded to Dr. Maria Passafaro) and we are thrilled to support his research. It is our aim in 2015 to continue to support the most promising research proposals we received last year.
Dr. Parent's research description follows:The goals of our research are to understand the role of protocadherin-19 (PCDH19) in brain development and how PCDH19 mutations lead to epilepsy. To accomplish these goals, we are modeling PCDH19 Epilepsy using two cutting edge scientific approaches. First, we generate (excitatory and inhibitory) brain cells from patient skin biopsies using the induced pluripotent stem (iPS) cell method. With patient-derived brain cells in a dish, we can investigate the mechanisms by which altered nerve cell development and excitability cause seizures. We are also generating a rat model by disrupting the PCDH19 gene in a subset of cells in the embryonic rat brain. To do this we use a technique called in utero electroporation combined with sophisticated gene editing methods. We will examine how brain cells that lose PCDH19 affect development of the cerebral cortex and nerve cell excitability. Both patient-derived cell and rat models will also provide platforms to screen for new therapies to treat PCDH19 Epilepsy.