Our Partnering SYNGAP1 Labs

We take pride in the group of researchers and clinicians we partner with to help drive the science that will lead to treatments.  Our commitment to providing the needed data to our SYNGAP1 researchers is the number one priority we have as an organization to continue the research efforts to help our community. 

Jimmy Holder, MD, PhD

Addresses:

Lab

Jan and Dan Duncan Neurological Research Institute1250 Moursund St., Suite 1350Houston, Texas 77030United States

 

Texas Children’s Hospital, Clinical Care Center (Clinic)
6701 Fannin St. Ste 1250Houston, Texas 77030United States832-822-1750
Office
Jan and Dan Duncan Neurological Research Institute1250 Moursund St., Suite 1350Houston, Texas 77030United States

The Holder lab investigates the genetic and neurobiological basis of neurodevelopmental and neuropsychiatric disorders.

Our first research grant was awarded to Dr. Jimmy Holder in September of 2019. This research grant will fund a clinical study to find biomarker(s) for this disorder that will be used in conjunction with basic research to develop targeted therapies.

Read the Press Release

Constance L. Smith-Hicks, M.D., Ph.D.

 

Kennedy Krieger Institute
707 N. Broadway
Baltimore, MD 21205
Phone: (443) 923-2778
Email: hicksc@kennedykrieger.org

Dr. Smith-Hicks is a neurologist with special qualifications in child neurology and a research scientist at the Kennedy Krieger Institute. She is the Medical Director for the Center for Autism and Related Disorders, and the Director of Basic Science Research in Fragile X Syndrome at the Kennedy Krieger Institute. She co-directs the Fragile X, SYNGAP1 and Rett Syndrome clinical programs and is an assistant professor in the Department of Neurology at the Johns Hopkins University School of Medicine.

BIOGRAPHICAL SKETCH:

Dr. Smith-Hicks completed her Bachelors of Science degree in Biochemistry from the City College of New York (CUNY) and the Medical Scientist Training Program at Columbia University College of Physicians and Surgeons, where she obtained her M.D., Ph.D. in 2000.  She trained in Pediatrics at the Albert Einstein College of Medicine and completed her Neurology and Pediatric Neurology training at the Johns Hopkins University School of Medicine in 2005. She then trained as a post-doctoral fellow in the Department of Neuroscience at Johns Hopkins University School of Medicine, under the guidance of Dr. Paul Worley and joined the faculty at Kennedy Krieger Institute in 2010.

She is a member of the Child Neurology Society, the Society for Neuroscience, and the American Academy of Neurology.  She serves on several National Fragile X syndrome leadership teams and has served as a guest editor for several journals.

Dr. Smith-Hicks specializes in Autism Spectrum Disorder, Fragile X and Rett Syndrome.  She is keenly interested in other genetic causes of neuro-developmental disabilities.  

RESEARCH SUMMARY:

Neuro-developmental disorders affecting learning and memory result from defective communication between neurons. Dr. Smith-Hicks’ team works to understand the process by which neurons are selected to integrate into networks. Her laboratory utilizes molecular, cell imagining, biochemical and electrophysiological techniques, as well as strategies that rely on the cellular reporting of active neurons from awake, behaving animals. She is interested in understanding the effect of imbalance of excitation and inhibition on the ability of neurons to integrate into stable networks. Her work is currently directed at understanding the mechanisms relevant to Fragile X Syndrome and Down syndrome and examines the impact of novel and current experimental therapies on network formation and stability in mice.

Dr. Smith-Hicks is a neurologist with special qualifications in child neurology and a research scientist at the Kennedy Krieger Institute. She is the Medical Director for the Center for Autism and Related Disorders, and the Director of Basic Science Research in Fragile X Syndrome at the Kennedy Krieger Institute. She co-directs the Fragile X, SYNGAP1, and Rett Syndrome clinical programs and is an assistant professor in the Department of Neurology at the Johns Hopkins University School of Medicine.

Our organization awarded $25,000 in January of 2019 to the SYNGAP1 Center of Excellence at KKI to provide support on several clinical studies being conducted with our SYNGAP1 children.

Read our Press Release 

Julia Dallman PhD

Julia E Dallman currently works at the Department of Biology, University of Miami. Julia does research in Developmental Neuroscience. Current projects focus on developmental mechanisms that establish excitatory/inhibitory balance in wild type and zebrafish models of Autism Spectrum Disorder.

The central goal of the Dallman lab is to determine mechanisms by which genetic mutations produce symptoms of the disease. To address this question, my group generates zebrafish models of inherited human neurological disorders to understand how mutations impact neural circuit development and produce resulting symptoms. The Dallman Lab is located in the College of Arts and Sciences at the University of Miami and is currently funded by the National Institutes of Child Health and Human Development to investigate gastrointestinal comorbidities linked to mutations in the SHANK3 gene that cause Phelan McDermid Syndrome. We focus on symptoms such as developmental delay and gastrointestinal distress that have been difficult to assess in more common mammalian models. In our future work, we hope to extend our studies to SYNGAP1, mutations in which are also linked to gastrointestinal distress. Our zebrafish syngap1 mutant model also exhibits reduced gastrointestinal motility consistent with gastrointestinal distress. By comparing zebrafish models with either syngap1 or shank3 mutations, we can elucidate both shared and distinct mechanisms by which different mutations produce these symptoms. Our long-term goal is to leverage the high-throughput drug screening capabilities in zebrafish models to inform treatment strategies for individuals with inherited nervous system disorders.

We will be beginning the first SYNGAP1 gut study in late 2020 in partnership with our new Southeast Syngap1 Center of Excellence. The partnership will include Joe DiMaggio Hospital System, Carolina Medical, Duke University, and Miami University.

Huganir Laboratory - Richard L. Huganir , PhD

Contact

E-Mail: rhuganir@jhmi.edu
Telephone Number: 410-955-4050

The Solomon H. Snyder Department of Neuroscience
Johns Hopkins University
School of Medicine
725 North Wolfe Street
Baltimore, MD 21205

Room: Hunterian 1001

Our laboratory is interested in the mechanisms that regulate synaptic transmission and synaptic plasticity. The general approach we have taken is to study molecular and cellular mechanisms that regulate neurotransmitter receptors. These receptors mediate the response of neurons to neurotransmitters released at synapses and are a central convergence point for transmission of signals between neurons. Modulation of the function of these receptors is a powerful and efficient way to modulate synaptic communication and synaptic plasticity. Over the years we have shown that receptor protein phosphorylation and the regulation of the synaptic targeting of receptors are dynamically regulated and regulate the efficiency of synaptic transmission. We are currently focusing our efforts on the mechanisms that underlie the regulation of the glutamate receptors, the major excitatory neurotransmitter receptors in the brain. These receptors are neurotransmitter-dependent ion channels that allow ions to pass through the neuronal cell membrane, resulting in the excitation of neuronal activity.

Andrew Stanfield, PhD

Contact

The Patrick Wild Centre’s Co-director and Director of Clinical Research

E-Mail: Andrew.Stanfield.ed.ac.uk
Telephone Number: 0131 650 2240
Fax: 0131 650 2239

The Patrick Wild Centre,
The University of Edinburgh
Hugh Robson Building
Edinburgh, EH8 9XD

Website: http://patrickwildcentre.com/person/andrewstanfield/

RESEARCH SUMMARY:

My research group carries out studies in two major areas: first, in testing potential therapeutic interventions for autism and intellectual disabilities and second, the study of brain mechanisms that underlie these conditions.

The focus of our clinical trail work comprises the assessment of potential medical and behavioural interventions. I have been the UK-chief investigator for several clinical trails of new medications for fragile X syndrome and we have also carried out studies targeted at developing social and cognitive abilities in people with autism and intellectual disability.

Related to this work, my group is also involved in studies to identify the clinical, behavioural and cognitive characteristics of people with genetic causes of autism, intellectual disability and related conditions. This research informs the development of relevant tools to measure improvement in clinical trials and the identification of subgroups of people who may respond to particular targeted interventions.

In studying the brain mechanisms underlying autism and intellectual disability we employ a cognitive neuroscience approach and often using Magnetic Resonance Imaging scans to examine brain structure and function.

The Neuro-GD study aims to better understand the clinical features of people with genetic conditions associated with intellectual disability and autism.  The initial focus is on SYNGAP1 related intellectual disability and fragile X syndrome but more conditions will be added.

Patrick Wilde at set up a special link to donate directly to Dr. Stanfield’s SYNGAP1 Study. https://patrickwildcentre.com/make-a-donation/

We also have a separate link that will raise the needed funds to hold another Family Meetups in the UK.

https://www.justgiving.com/campaign/syngap1familymeetup

Jacques L. Michaud , M.D.
RESEARCH AXIS

Brain and Child Development

RESEARCH THEME

Neurodevelopmental diseases

ADDRESS

CHUSJ – Centre de Recherche

PHONE

514 345-4931 #4727

The purpose of the Synapse to Disease Project or S2D is to identify the genes that cause or predispose to numerous disorders of brain development such as schizophrenia, autism, mental retardation and Tourette syndrome. The project is based on two main hypotheses: 1) that disorders of brain development are the result of new mutations and 2) that these new mutations take place in genes involved in the synapse, the contact point between nerve cells. What makes the S2D project unique is that it combines gene screening and genetic validation with the biological analysis of mutations. The project is divided into four steps: the selection of cases and genes to be studied, the amplification of DNA fragments and the detection of genetic variants, the genetic validation of identified mutations and the functional biological analysis of the most interesting mutations. The S2D project started in April 2006 with funding from Genome Canada and Genome Québec. Initial funding made it possible to set up the infrastructure for large-scale analysis, to hire and train personnel as well as to develop the scientific and bioinformatics resources necessary for the proper conduct of the project. Funds from Genome Canada and Genome Québec allow the analysis of synaptic genes in cases of autism and schizophrenia while grants from the Canadian Institutes of Health Research and the Tourette Syndrome Association make it possible to study Mental Retardation and Tourette Syndrome. For more information on the S2D project and its progress visit the project’s website at www.synapse2disease.ca.

 

Seth Grant, PhD

Professor Seth Grant

Professor of Molecular Neuroscience

G2C::Genes to Cognition

Centre for Clinical Brain Sciences

 

 

 

Research summary

The long-term aim is to understand the fundamental mechanisms of behaviour and how these mechanisms are involved in brain disease.

The research has focussed on the study of genes and proteins that control the synapses between nerve cells. Multiprotein machines comprising many different protein components are responsible for basic innate and learned behaviours and dysfunction in many brain diseases.

Recent work shows that these mechanisms are conserved between mice and humans opening new avenues for diagnosis and therapeutic discoveries. The Genes to Cognition programme has generated a large amount of data and tools that are freely available

Dr. Seth Grant Focuses on the neuromolecular function of synapses.

  • Synapses are the specialized junctions between nerve cells and play a fundamental role in the organization of brain circuits and behavior. A hallmark of synapses is their complexity in numbers and molecular composition.
  • Synaptome refers to the complement or catalog of synapse types in the brain and a Synaptome map describes the anatomical distribution of synapse types.
  • We have developed a new approach to mapping the molecular composition of individual synapses in the whole mouse brain and thereby generate synapse catalogs and synaptome maps.
Ingrid Scheffer AO MBBS PhD FRACP FAA FAES

Address: Epilepsy Research Centre
Level 2, Melbourne Brain Centre
245 Burgundy Street
Austin Health
Heidelberg 3084
VIC AUSTRALIA
Telephone: +613 9035 7344
Fax: +613 9496 221
Email: scheffer@unimelb.edu.au

 

Laureate Professor Ingrid Scheffer’s work has resulted in major paradigm shifts in epilepsy syndromology and classification over many years. Her work has formed the essential basis for successful gene discovery such that her larger collaborative group has been the leaders in epilepsy gene identification for 18 years since they discovered the first gene associated with epilepsy. This body of work has resulted in insights into the biology of seizures.

Professor Scheffer is Chair of Paediatric Neurology Research at The University of Melbourne and Senior Principal Research Fellow at the Florey Institute of Neuroscience and Mental Health. Professor Scheffer is a founding fellow of the Australian Academy of Health and Medical Sciences and currently its Vice-President.

Ingrid and her colleagues have described a range of novel epilepsy syndromes beginning in infancy, childhood and adult life.  Her work has meant that children and adults with sodium channel disorders such as Dravet syndrome and related epilepsies are diagnosed earlier and treated appropriately which improves their long term outcomes. Her recent work on a fascinating disorder occurring exclusively in females, Epilepsy limited to Females with Mental Retardation, is changing the way family histories are interpreted and will benefit affected women and transmitting men by improving genetic counseling. She has considerably expanded our understanding of the spectrum of epilepsies associated with glucose transporter deficiency; this body of work carries major treatment implications as this disorder responds to the ketogenic diet. Her work is important as it has changed our concepts of the underlying neurobiology of genetic epilepsies.

In 2012, Professor Scheffer was awarded the L’Oréal-UNESCO Laureate for Women in Science for the Asia-Pacific Region, and travelled to Paris to receive the award. In the past Prof Scheffer has received the 2007 American Epilepsy Society Research Recognition Award and the 2009 Eric Susman Prize from the Royal Australasian College Of Physicians.  She has served the International League Against Epilepsy in many capacities  and held the Chair of the ILAE Commission for Classification and Terminology from 2009 until 2013. The ILAE presented her with the Ambassador for Epilepsy award in 2013 and in the same year, she received the Emil Becker Award for an outstanding contribution to child neurology, the Australian Neuroscience Medallion and the prestigious national prize, the GlaxoSmithKline Award for Research Excellence. In 2014, she was elected a fellow of the Australian Academy of Science and an Officer of the Order of Australia (AO) in the Queen’s Birthday Honours List.

The L’Oréal-UNESCO Awards, which were first created in 1998, recognise five outstanding women researchers each year who have contributed to scientific progress.  There is one Laureate from each of the five major regions of the world: Africa and Arab States, Asia (including Oceania and Pacific), Europe, Latin America and North America. It is intended that these exceptional women scientists serve as role models for the next generation, encouraging young women around the world to follow in their footsteps. Prof Scheffer’s award is the first for an epilepsy researcher, and this prize provides great visibility to her work throughout the epilepsy research community.  It is also an example of the great strides that can be made when a talented group of researchers combine their complementary skills.

Laureate Professor Ingrid Scheffer AO FAA FAHMS is a pediatric neurologist and professor at the University of Melbourne, Austin Health and The Royal Children’s Hospital, Melbourne. Professor Scheffer is helping to transform the diagnosis and treatment of epilepsy, a brain disorder characterized by seizures and other symptoms that can be extremely disruptive to the lives of the 50 million people affected by it. She has described several new forms of epilepsy and her research group was the first to uncover a gene for epilepsy and subsequently, many of the genes now known to be implicated.

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