Scientific Advisory Board

Associate Professor Wendy Gold is the head of the Molecular Neurobiology Laboratory at Kids Research based at The Children’s Hospital at Westmead, the Children’s Medical Research Institute and the University of Sydney.

Her training includes an honors degree in Genetics and a PhD in Medicine which she undertook at St. Vincent’s Hospital in Sydney (University of New South Wales). 

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Wendy successfully conducts a research program of interdisciplinary translational research spanning the fields of neurology, neuropathology, fundamental neuroscience, clinical chemistry and pharmacology. She has worked in the field of neurobiology for over 13 years and over the past decade she has contributed to the understanding of the underlying pathophysiology of many pediatric genetic disorders as well as examining potential novel therapies. Her research focus lies in rare pediatric gene disorders and virus-mediated gene therapy and translational medicine.

Dr. Henry Houlden is a consultant neurologist at University College

London and the National Hospital Neurology and Neurosurgery. He has clinical expertise in inherited neurological disorders, and movement disorders such as multiple system atrophy, ataxia, leukodystrophy, epilepsy and paroxysmal conditions, spastic paraplegia, and neuromuscular conditions. He also co-leads for the Genomics England Clinical Interpretation Partnership (GeCIP) and sits on the Genomics England committee representing rare diseases.

Henry is the Clinical Lead for the Neurogenetics Laboratory at the UCL Queen Square Institute of Neurology, which uses a range of molecular genetic tools to help further our understanding of the genetic basis of neurological disease. The laboratory is focused on identifying variants in the DNA sequence which contributes to the pathogenesis of a range of disease states. Through a combination of genetic, functional cell biology, and neuropathological methods, the Neurogenetics lab aims to understand neurological diseases and their pathological processes and to translate research into disease modifying treatment for human diseases.

Vincenzo Salpietro is a Pediatrician with a special clinical and academic interest in the genetics of inherited neurological disorders. He is a full Professor of Pediatrics and Pediatric Neurology in Italy and visiting clinician scientist in London, where he frequently collaborates with his mentor Prof Henry Houlden on VAMP2 research. 

Over the years, he has been committed to the discovery and modeling of novel monogenic causes of childhood neurodevelopmental conditions. 

Currently, the predominant focus of his research is understanding the molecular mechanisms regulating the release, the transport and the action of neurotransmitters at synapses and how changes in DNA can lead to intellectual disability and autism spectrum disorders in children.  

Kirill Volynski is a Professor of Neuroscience at University College London. After establishing his laboratory at UCL Queen Square Institute of Neurology in 2006 (MRC Career Development Fellowship), he focused on studying the mechanisms of synaptic transmission that underlies neuronal communication in the brain.

The precise discharge of packets of chemical messengers (neurotransmitters) is at the core of synaptic communication. We now have a highly detailed understanding of how the so--

called SNARE proteins assemble to bring these packets, known as synaptic vesicles, to the membrane and then discharge the neurotransmitter into the synaptic cleft upon the arrival of

an electrical signal.Synapses between neurons are critical sites of modulation and plasticity in health and disease. Therefore, detailed knowledge of the cellular mechanisms that regulate synaptic transmission at the level of individual synapses is a prerequisite for understanding the operation of complex neuronal circuits.

Volynski's group has established a powerful suite of quantitative imaging and computational modeling approaches that allow them to study the events leading up to the release of chemical neurotransmitters at individual synapses. This is based on measuring, with fluorescence microscopy, rapid changes in the concentration of calcium ions and the rate at which small vesicles containing chemical neurotransmitters are discharged. Using this approach, they aim to investigate how different components of vesicular release machinery control neurotransmitter release and synaptic plasticity.It is emerging that mutations in the genes that encode the components of SNARE-associated fusion machinery cause neurodevelopmental disorders that typically include

motor abnormalities, intellectual disability, failure to acquire language skills, autistic features, and epilepsy. Collectively such neurodevelopmental disorders are termed SNAREopathies.

Volynski's group investigates how SNAREopathy mutations affect synaptic transmission in the brain synapses with the ultimate goal to identify genetic therapy strategies.

 Dr. Jacqueline Burré is an Associate Professor of Neuroscience at the Helen and Robert Appel Alzheimer’s Disease Institute and the Feil Family Brain and Mind Research Institute at Weill Cornell Medicine. She obtained her doctorate degree in biochemistry from Goethe University in Germany, where she studied the composition of synaptic vesicles. As a postdoctoral fellow at UT Southwestern Medical Center and then Stanford University, Dr. Burré pursued her interests in neuronal communication with Nobel Laureate Tom Südhof, focusing on the role of α-synuclein in normal brain function and in Parkinson’s disease. In her own laboratory, she continues the functional studies of synucleins and has expanded her focus on SNAREopathies caused by mutations in VAMP2, SNAP-25 and STXBP1. The ultimate goal in her lab is to understand molecular mechanisms underlying these diseases, and to use this knowledge as a basis for designing therapeutic strategies.   

Dr. Erica Fernandes is a clinical Geneticist specializing in pediatric genetic disorders. She iscurrently practicing at Nemours Children’s Hospital in Wilmington, Delaware, and is a Clinical

Assistant Professor of Pediatrics at Thomas Jefferson University's Sidney Kimmel Medical College. Dr. Fernandes attended Lake Erie College of Osteopathic Medicine in Erie, Pennsylvania, and went on to complete her pediatric residency training at the University of Mississippi Medical Center in Jackson, Mississippi. It was there that her interest in pediatric genetics was ignited and soon became her passion. This led her to pursue a fellowship in Clinical Genetics at Virginia Commonwealth University in Richmond, Virginia. Dr. Fernandes is board-certified in Pediatrics as well as Medical Genetics and Genomics. Dr. Fernandes' areas of specialty and interest include neurodevelopmental disorders, dysmorphology, craniofacial and clefting disorders, and arthrogryposis. She is part of the multispecialty Cleft/Craniofacial clinic and the multispecialty Arthrogryposis clinic at Nemours in Wilmington, Delaware. She is also a member of the New York Mid-Atlantic Caribbean (NYMAC) Regional Genetics Network – Delaware, which is focused on increasing access to Genetic services and support in the state of Delaware.