SCIENTIFIC CREW


genevieve_bernardB Dr Geneviève Bernard – Paediatric Neurologist / Associate Professor

Children’s Hospital of the McGill University Health Center

Montreal Canada

Geneviève Bernard received her Medical Degree (2002) and Master’s degree in Neurosciences (2003) from Université de Montréal. She completed her residency in Pediatric Neurology at McGill University (2008) and her fellowship in Neurogenetics and Movement Disorders at Université de Montréal (2011) under the supervision of Pr. Bernard Brais, Pr. Guy A Rouleau and Dr. Sylvain Chouinard. She started her career as a young investigator and pediatric neurologist in October 2011 at the Montreal Children’s Hospital of the McGill University Health Center (MUHC) and MUHC Research Institute. She is currently an Assistant Professor at McGill University, in the Departments of Neurology and Neurosurgery and Pediatrics at McGill University and a member of the Medical Genetics and Pediatrics Departments of the MUHC. Dr. Bernard and her team discovered the three genes responsible for 4H leukodystrophy and published. She is working the clinical, radiological, molecular and pathophysiological characterization of hypomyelinating leukodystrophies caused by transcriptional or translational defects. Dr. Bernard published numerous peer-reviewed manuscripts, book chapters/course notes and abstracts, and she has been an invited speaker at numerous national and international conferences.

marco_heroldB Dr Marco Herold – Laboratory Head Molecular Genetics

Walter and Eliza Hall Institute

Melbourne Australia

Marco Herold is an expert in lymphocyte apoptosis, cancer, the generation of innovative inducible lentiviral systems, mouse genetics, whole genome screening, RNAi and CRISPR/Cas9 genome editing technology. During his PhD at the University of Würzburg (Germany), he addressed key questions in the field of lymphocyte apoptosis using cutting edge molecular biology techniques. For his first postdoctoral position (joint between the University of Würzburg and Europe’s leading mouse genetics company, TaconicArtemis) he switched fields and acquired the ability to generate inducible knockdown mice and rats by lentiviral transgenesis. For his second postdoctoral position he came to WEHI in 2008 to join the prestigious laboratory of Prof. Andreas Strasser. Marco’s vast know-how in lentiviral technologies, apoptosis research and the functional genomic screening in vitro and in vivo, resulted in many high impact publications. Today, Marco is the laboratory head at WEHI in the Molecular Genetics of Cancer Division. The major interest of his group is the identification, validation and therapeutic targeting of novel cell death regulators in cancer. Since Dr Herold has recently also successfully introduced and established the new genome editing technology CRISPR/Cas9, he has been additionally appointed as the head of the new Genome Editing lab at WEHI, which uses CRISPR/Cas9 technology for whole genome screening and the targeted generation of mutant mice.

leah_kaminskyB Dr Leah Kaminsky – Medical Director

Elwood Family Clinic

Melbourne Australia

Leah Kaminsky, a family physician and writer, is Poetry & Fiction Editor at the MJA and Online Editor at Hunger Mountain. An award-winning author of several books, she conceived and edited Writer, M.D., an anthology of contemporary doctor-writers (Vintage Knopf, US 2012). Her poetry collection, Stitching Things Together was published in 2010 (Highly commended IP Picks Prize, commended Anne Elder award). She is co-author, with Professor Frank Oberklaid, of Your Child’s Health. She holds an MFA in Creative Writing from Vermont College of Fine Arts, and is the recipient of many grants and fellowships.td>

mattias_klugmannB Dr Matthias Klugmann – Associate Professor

Functional Genomics Group – University of New South Wales

Sydney Australia

Matthias Klugmann is head of the Functional Genomics Group in the Translational Neuroscience Facility at the University of New South Wales. He obtained his postgraduate training in Molecular Neurobiology in the laboratory of Prof. Klaus Nave at the University of Heidelberg. Using mouse models of Pelizaeus Merzbacher Disease during his PhD, he discovered that oligodendrocytes provide a trophic support for neurons that is essential for long-term axonal integrity. In 2000, Matthias received an EMBO Long-Term Fellowship to support his post-doctoral training at the University of Auckland, working in the laboratory of Prof. Matthew During. At that time, he developed an ongoing interest in gene therapy for the treatment of leukodystrophies, with a focus on Canavan Disease. After his return to Germany in 2004, he was a laboratory head at the Universities of Heidelberg and Mainz, and became a partner of LeukoTreat, a project funded by the European Commission aiming at developing therapeutic strategies for the largest number of leukodystrophy affected patients. He is also a member of the newly formed Australian Leukodystrophy Support Group clinical and research network. Following his appointment to UNSW in 2010, Matthias was awarded a prestigious Future Fellowship by the Australian Research Council (ARC) for his research program on metabolic changes in the etiology of leukodystrophies. Broadly his interests are to study gene function in animal models of myelin diseases and to develop recombinant viral vector platforms for the treatment of these disorders.

rick_leventerB Dr Richard Leventer – Paediatric Neurologist / Associate Professor

Royal Children’s Hospital / Murdoch Children’s Research Institute

Melbourne Australia

Richard Leventer is a consultant paediatric neurologist at the Royal Children’s Hospital and Group Leader of Neuroscience Research at the Murdoch Children’s Research Institute. Richard completed his training in Medicine at Monash University (including a BMedSci in biological psychiatry). After which he trained in General Paediatrics and Paediatric Neurology at the Royal Children’s Hospital in Melbourne. He then completed a two-year fellowship in clinical paediatric neurology at Washington University School of Medicine in St. Louis followed by two years as Research Associate in the Department of Human Genetics at the University of Chicago, working in the laboratory of Professors David Ledbetter and William Dobyns as a research associate on the Brain Malformation Research Project. He returned to the Royal Children’s Hospital as a Consultant Neurologist in July 2001. In October 2007 he received his PhD on the topic of human cortical malformations focussing on polymicrogyria. Richard is the immediate past president of the Australia and New Zealand Child Neurology Society. He has recently been invited to be an Australian representative on a new international consortium studying leukodystrophies and related white matter disorders, known as the Global Leukodystrophy Initiative (GLIA). He is also a member of the newly formed Australian Leukodystrophy Support Group clinical and research network.

rick_leventerB Dr Cas Simons – Senior Research Fellow

University of Queensland IMB

Brisbane Australia

Cas Simons is Research Fellow at the University of Queensland’s Institute for Molecular Bioscience. He holds a BSc (Hons) in Biochemistry from the University of Otago, NZ and completed his PhD in Genomics and Computational Biology at the University of Queensland under the supervision of Prof. John Mattick. After the completion of his PhD Cas joined the Queensland Facility for Applied Bioinformatics (QFAB) in 2008 leading a team of bioinformaticians and IT professionals delivering contract research, analysis and scientific software development to a diverse life sciences clientele. In 2012 he returned to the Institute of Molecular Bioscience joining the research group of Dr Ryan Taft before establishing his own research group in 2014. His recent work has focused on using high-throughput sequencing and cutting-edge bioinformatics to identify genetic basis of rare Mendelian disorders. The Simons group is also using CRISPR/Cas9 genome editing to develop models of white matter disorders in zebrafish, including a model of HBSL.

ryan_taftB Dr Ryan Taft – Senior Research Fellow / Director Scientific

ResearchUniversity of Queensland IMB / Illumina

Brisbane Australia / San Diego United States

Ryan Taft is a Laboratory Head and Senior Research Fellow at the University of Queensland’s Institute for Molecular Bioscience. He obtained his Bachelor of Science in Biochemistry and Molecular Biology from the University of California, Davis on a Regent’s Scholarship, and his PhD in Genomics and Computational Biology from the University of Queensland on a US National Science Foundation Research Fellowship. He has published in a variety of well-regarded journals – including articles in Nature Genetics, Nature Structural and Molecular Biology, the American Journal of Human Genetics, RNA and others – and has had his work recognised by the Australia Museum Eureka Prizes and the UQ Foundation Research Excellence Awards. His current research is focused on the cryptic genetics of disease, with an emphasis on rare paediatric disorders and the role of non-protein-coding RNAs in epigenetic processes. He has recently been invited to be a representative on a new international consortium studying leukodystrophies and related white matter disorders, known as the Global Leukodystrophy Initiative (GLIA).

marjo_vanderknaapB Dr Marjo van der Knaap – Professor

VU Medisch Centrum

Amsterdam Netherlands

Marjo van der Knaap obtained a cum laude degree in medicine from the Erasmus University Rotterdam in 1984. In 1991, she obtained a cum laude PhD at the Department of Paediatric Neurology at Utrecht University in close collaboration with the Department of Neuroradiology at VU University in Amsterdam, where she has been Professor of paediatric neurology since 1999. She has received a multitude of scientific prizes and grants and recently received the Sidney Carter Award of the American Academy of Neurology. Marjo has a special interest in abnormalities of the white matter of the brain. During her PhD studies, she discovered that patients with the same white matter disorder have similar abnormalities on MRI scans. She subsequently developed a computer-guided pattern recognition system that made the diagnosis of known diseases both quicker and cheaper. Subsequently, she committed herself to as yet unknown disorders. She identified five new diseases, one of which was even named van der Knaap Disease by her peers, and then focused on discovering their causes. With her staff she managed to identify many of the genes responsible for these diseases, which made prenatal diagnostics possible. Her ultimate goal is to find effective treatment for children with white matter disorders. With this in mind she breaks through the boundaries of her discipline to follow a disease from its cause to its treatment. She has recently been invited to be a European representative on a new international consortium studying leukodystrophies and related white matter disorders, known as the Global Leukodystrophy Initiative (GLIA).

adeline_vanderverB Dr Adeline Vanderver – Paediatric Neurologist / Associate Professor

Children’s National Medical Center / George Washington University

Washington United States

Adeline Vanderver, is a child neurologist with special expertise in biochemical genetics. Adeline is the Principal investigator, Children’s Research Institute Centre for Genetic Medicine Research (CGMR) and Assistant Professor Neurology, Pediatrics at George Washington University School of Medicine and Health Sciences. Adeline has been interested in neurodegenerative conditions since medical school and was naturally drawn to clinical training in pediatrics (AI du Pont Hospital for Children), child neurology (CNMC) and finally Biochemical genetics (NHGRI). During her fellowship training, Adeline worked in the laboratory of Eric Hoffman, on diagnostic approaches in leukodystrophies. Adeline’s current clinical research interests include undiagnosed neurogenetic disorders and leukodystrophies, with research protocols aimed at providing diagnosis. She is also exploring abnormal protein production in eIF2B related disorders and the etiology of hypomyelinating (or pelizaeus merzbacher-like disorders) leukodystrophies. Adeline is the research leader and chairperson on a new international consortium studying leukodystrophies and related white matter disorders, known as the Global Leukodystrophy Initiative (GLIA).

nicole_wolfB Dr Nicole Wolf – Paediatric Neurologist

VU Medisch Centrum

Amsterdam Netherlands

Even before entering medical school, Nicole Wolf wanted to be a child neurologist. She completed her MD/PhD in Neurosciences, on proliferation control and neuronal differentiation of chromaffine cells. She started her specialisation in paediatrics and child neurology in 1999 at the Child Neurology department of Heidelberg University Children’s Hospital, Germany. She became interested in inherited white matter disorders there, and her “habilitation” on this subject was finished in 2007. In 2008, she moved to VU University Medical Center, Amsterdam, where she is part of the white matter research group . Her main interest is in hypomyelinating disorders, especially 4H syndrome. She has recently been invited to be a European representative on a new international consortium studying leukodystrophies and related white matter disorders, known as the Global Leukodystrophy Initiative (GLIA).

ernst_wolvetang Dr Ernst Wolvetang – Professor

University of Queensland AIBN

Brisbane Australia

Ernst Wolvetang obtained his PhD from the University of Amsterdam, where he investigated metabolite transport in peroxisomes. Following on from his interest in redox regulation of cell behaviour he uncovered a novel link between plasma membrane oxido-reductase enzymes and apoptosis at Monash University. This led him to next investigate the role of chromosome 21 transcription factors in Down syndrome at the Institute for Reproduction and Development in Melbourne. In 2003 he joined the laboratory of Prof. Martin Pera to help pioneer human embryonic stem cell research. In 2009 He took up a group leader position at the Australian Institute for Bioengineering and Nanotechnology in Brisbane to interface with emerging nano- and “smart” surface-technologies at the institute. His laboratory employs iPSC as in vitro disease models to better understand the underlying gene regulatory networks of in particular complex neurological diseases and develops novel technologies to interrogate and direct the behaviour of human pluripotent stem cells. He is the president of “Cell reprogramming Australia” and is a principal investigator in the ARC Centre of Excellence “Stem Cells Australia. He has recently been invited to join a new international consortium studying leukodystrophies and related white matter disorders, known as the Global Leukodystrophy Initiative (GLIA).