Bridge the Gap – SYNGAP – Education and Research Foundation

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
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

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

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.

Gavin Rambaugh, PhD

The Contribution of Synaptic Plasticity to Memory, Cognition and Disease

The Rumbaugh Lab

Department of Neuroscience

The Scripps Research Institute

130 Scripps Way

Jupiter, FL 33458

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

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.

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.

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