Bridge the Gap – SYNGAP – Education and Research Foundation

Medical/Scientific Advisory Board

Dr. Jimmy Holder 

Director
Dr. Holder is an assistant Professor of Pediatrics Neurology and Developmental Neuroscience at Baylor College of Medicine in Houston, TX. He also works with Texas Children’s Hospital in Department of Pediatric Medicine & Neurology.  He graduated from University of Texas Southwestern Medical Center at Dallas Southwestern Medical School in 2005 and has been in practice for 14 years. Dr. Holder also specializes in Child Neurology.

Dr. Seth Grant

Seth Grant graduated from Sydney University with a Bachelor of Science (Medicine) degree based on research in respiratory neurophysiology with Dr. D.J.C. Read in 1980.

He graduated with Bachelor of Medicine and Bachelor of Surgery with First Class Honours in 1984 and also conducted respiratory physiology research at the Royal Free Hospital London with Dr. S.W. Clarke in 1981 and 1983.

From 1985-1989 he was a Postdoctoral Fellow at Cold Spring Harbor Laboratory (New York) with Dr. D.Hanahan studying transgenic mouse models of cancer and diabetes.

As a research associate at the Howard Hughes Medical Institute (1989-1994) and Centre for Neurobiology and Behavior at Columbia University (New York) he studied mouse genetic models of learning and memory with Dr. E.R. Kandel (Nobel Laureate in Medicine and Physiology, 2000).

He established his laboratory at the Centre for Genome Research at Edinburgh University in 1994 and in 2000 was appointed Professor of Molecular Neuroscience in the Division of Neuroscience. In 2003 he was appointed Principal Investigator at the Wellcome Trust Sanger Institute in Cambridge and remained there until 2011, when he returned to Edinburgh University.

He has held additional appointments including the John Cade Visiting Professor at Melbourne University (2005), Honorary Professorship at Cambridge University (2007 onward) and elected Fellow of the Royal Society of Edinburgh (2011).

Research Overview

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 research team (www.genes2cognition.org) has generated a large amount of data and tools that are freely available and an education and public understanding website (www.G2COnline.org).

Richard L. Huganir

Dr. Huganir is currently a Professor and Director of the Department of Neuroscience at John’s Hopkins University School of Medicine. He serves as the President Elect for the Society of Neuroscience, Council Member to the NIMH, he was in the scientific advisory board member for the Stanley Center for Psychiatric Research. From 2013 – 2016, he served on the Neuroscience
Therapeutic Advisory Board as Chair at Pfizer, Inc.

 

His undergraduate degree is an A.B. Biochemistry from Vassar College and he earned his Ph.D. from Cornell University in Biochemistry, Molecular and Cell Biology. Dr. Huganir received the Goldman-Rakic Price for Outstanding Achievement in Cognitive Neuroscience in 2014; was awarded the Society of Neuroscience Julius Axelrod Award in 2007, and was elected to the National Academy of Sciences in 2004. His expertise is on SYNGAP1 and cognitive disorders will accelerate our mission to understanding SYNGAP1 and the biological mechanisms that are associated with it and bring continued hope to our patient group.

Gavin Rumbaugh, PhD.

Dr. Gavin Rumbaugh is an Associate Professor in the Department of Neuroscience at the Scripps Research Institute in Jupiter, Florida. Dr. Rumbaugh trained at the Johns Hopkins University School of Medicine. In his laboratory, he studies how neuronal dysfunction contributes to diseases of cognitive ability, such as intellectual disability, autism spectrum disorder and Alzheimer’s disease. A major focus of his current research is to develop therapeutics that improve cognitive dysfunction commonly observed in neuropsychiatric disorders, with a particular emphasis on therapeutics that prevent cellular dysfunction during development.

Dr. Micheal Parker

Dr. Parker was appointed as a Consultant Clinical Geneticist at Sheffield Children’s Hospitals Trust in January 2003.  He is one of seven Consultants in the Sheffield Clinical Genetics Service, which covers a population of approximately 1.8 million in South Yorkshire, North Derbyshire and the East Riding.  This is a largely out-patient specialty, with some ward referrals.  Although now based at the Northern General Hospital, most of his clinical work is done in peripheral hospitals.  His background is in Paediatrics and his sub-specialty interest is Paediatric Genetics, particularly Dysmorphology, Learning Difficulties, Deafness and Looked After Children.  He regularly presents cases at local, regional, national and international Dysmorphology meetings.  He is also the departmental lead for the Joint Cleft Lip & Palate and Eye Genetic Clinics.  He helps to facilitate the following MDT’s: Paediatric Neurology & Genetics, Paediatric Neurodisability and Genetics, and Ophthalmology & Genetics. He represents the department at a Trust Agile Working group initiative.

Dr. Parker attended patient/family conferences organised by the Unique Patient Support Group, giving talks and clinics, in the capacity of Expert Adviser.  He has also fundraised, most recently running the London Marathon, for this group.

He is currently the National Convenor between the Clinical Genetics Society (CGS) and Royal College of Paediatrics & Child Health (RCPCH).  The three main roles of this post are to: 1) organise a Genetics sub-group session at the national RCPCH conference; 2) to facilitate CGS contributions to relevant consultation documents produced by RCPCH; and 3) represent CGS at bi-annual Speciality Group meeting at RCPCH.  He is also co-opted to the CGS Council in this role He has recently written a Congenital Malformations module for the RCPCH Paediatric Care Online UK programme currently under development.

He is a member of the British Society for Genetic Medicine’s Ethics and Policy Committee and have attended an inaugural joint meeting of this body and the GenEthics Club in relation to the 100,000 Genomes Project Practical Ethics GeCIP,considering the ethical aspects of this new, national genomics initiative.

Dr. Ingrid Scheffer

Dr. Scheffer is currently the Chair of Paediatric Neurology Research; Paediatric Neurologist; and Director of Paediatrics at The University of Melbourne; Austin Health. She is currently serving as the Vice President of The Australian Academy of Health and Medical Sciences since 2015.  She has been a member on the National Health and Medical Research Council since 2015; served as Chair on the Commission for Classification and Terminology for the International League Against Epilepsy from 2009-2013 and is now the Secretary of Commission for Classification and Terminology for the International League Against Epilepsy from 2013 – Present; and the Chair on the Classification Task Force from 2014 – Present. She has led the first new classification of the epilepsies in almost 30 years, published in March 2017. Dr. Scheffer currently serves on the Editorial Boards of Neurology (2014- Present); Epilepsy Currents (2014- Present) and Epileptic Disorders (2006 – Present).
Dr. Scheffer received the L’Oreal-UNESCO Women in Science Laureate for the Asia-Pacific region for 2012. In 2014, she was elected Fellow of Australian Academy of Science; elected as Vice President and Foundation Fellow of the Australian Academy of Health and Medical Sciences; and was the Co-Recipient of the Prime Minister’s Prize for Science and awarded the Order of Australia.  Her valuable knowledge on SYNGAP1 and seizure disorders will help accelerate our mission to understanding SYNGAP1 and the biological mechanisms that are associated with it, continuing to further bring hope to our patient group.initiative.

Dr. Jacques Michaud

Dr. Jacques Michaud is a physician in the Department of Medical Genetics at the CHU Sainte-Justine.  His laboratory research concentrates on dissecting the developmental program of the paraventricular nucleus (PVN), a small group of neurons located in the hypothalamus. Its size and well-characterized cellular composition make the PVN an interesting model for studying the fundamental mechanisms controlling the differentiation of neurons and the generation of cellular diversity of the brain. PVN neurons participate in controlling a large number of physiological phenomena including appetite, thirst and response to stress. We have postulated that the study of PVN development will also allow us to better understand diseases affecting the physiological phenomena. In April 2006, the laboratory initiated an important research project focused on identifying genes responsible for mental retardation. During this five-year project, 300 genes involved in synapses will be studied in 285 subjects suffering from non-syndromic mental retardation. The most interesting variations will become the subjects of a more in-depth functional biological study.

Dr. Andrew Stanfield

Dr. Andrew Stanfield is working at The University of Edinburgh as a Senior Clinical Research Fellow/Honorary Consultant Psychiatrist and the Director of Clinical Research at the Patrick Wild Centre. He is currently is researching into neurodevelopmental disorders and psychiatric conditions. He currently conducts research into single gene disorders which lead to intellectual disability and autism, including running clinical trials for these conditions.  He is a clinical psychiatrist for adults with intellectual disability and/or autism. He is also affiliated with health service which provides clinical services including psychiatry, inpatient and outpatient clinical services for Edinburgh and the Lothians (pop ~ 800,000).  Includes people with intellectual disability.

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