Birgit Assmann, University Children’s Hospital Heidelberg
Medical studies from 1981 to 1989 including an experimental HPLC work in a biochemistry laboratory over 3 years as Thesis, Clinical work in Nancy (France) University Children’s Hospitals Marburg, Duesseldorf and Heidelberg (all in Germany). Research and clinical project at Great Ormond Street Hospital London (Great Britain) with Dr. Robert Surtees 1998-2000. Qualification as Pediatrician, Neuropediatrician, Venia legendi 2007.
Nenad Blau, University Children’s Hospital Heidelberg, Germany
Prof. Blau is a senior lecturer in biochemistry and metabolic disorders at the University of Zürich and author of more than 300 research publications, incl. the standard books “Physician’s Guide to the Laboratory Diagnosis of Metabolic Disease”, “Physician’s Guide to the Treatment and Follow-up of Metabolic Disease”, and “Laboratory Guide to the Methods in Biochemical Genetics”. His research group discovered several new inborn errors of metabolism, and established databases for pediatric neurotransmitter disorders, PAH locus-specifics, and PKU genotypes (www.biopku.org). He is currently senior consultant in biochemical genetics at the Children’s Hospital in Heidelberg.
Elizabeth Conibear, University of British Columbia
Elizabeth Conibear is an Associate Professor of Medical Genetics at the University of British Columbia and a Scientist in the Centre for Molecular Medicine and Therapeutics (CMMT) at the Child and Family Research Institute. She obtained her PhD from the MRC Laboratory of Molecular Biology and the University of Cambridge and carried out postdoctoral research at the University of Oregon’s Institute for Molecular Biology. The goal of her research program at UBC is to identify the regulatory proteins that control vesicle transport in order to understand how underlying defects in protein and lipid trafficking contribute to human disease.
Silvia Corvera, University of Massachusetts Medical School
Silvia Corvera is Professor of Molecular Medicine and Associate Director of the MDPhD Program at the University of Massachusetts Medical School. She received her M.D. (1983) at the National Autonomous University of Mexico, and subsequently a Masters in Biomedical Sciences (Molecular Biology, with Honors) (1984). She was awarded a Fogarty International Fellowship to conduct postdoctoral studies at the University of Massachusetts (1984-1986). She was on the Faculty at the Department of Pathology at the University of Pennsylvania (1987-1990) before moving to the University of Massachusetts Medical School to the newly formed Program in Molecular Medicine.
Dr. Corvera’s laboratory has been continuously funded by NIH for over 20 years to study molecular mechanisms of insulin action and insulin resistance. Early efforts in this area led to her discovery of the mechanisms by which insulin and other growth factors allow proteins to move within cells, stimulating processes like glucose transport (Science. 1994 Feb 4;263(5147):684-7, Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7326-30, Nature. 1998 Jul 30;394(6692):433-4). In more recent work, her laboratory was first to determine that a deficit in energy producing mitochondria in adipose tissue in overweight individuals might cause insulin resistance (J. Clin. Invest. 2004, 114(9): 1281-1289). More recently her laboratory has found that deficiencies in blood circulation in adipose tissue are an important factor in type 2 diabetes (Circulation. 2011 Jan 18;123(2):186-94). Her laboratory is currently developing approaches to target the adipose tissue microvasculature for the treatment of type-2 diabetes and other obesity-related metabolic diseases.
Dr. Corvera’s recent service activities include co-organizer, Keystone Symposia, Adipose Tissue Biology, Keystone, Colorado (2010); Co-chair (2011) and Elected Chair (2013), Federation of American Societies for Experimental Biology (FASEB) summer research conference on Glucose Transport and Metabolic Systems Biology, Membership on the Scientific Sessions Meeting Planning Committee of the American Diabetes Association 2009-2011, and membership in the NIH Diabetes Research Strategic Plan Working Group for the Diabetes Mellitus Interagency Coordinating Committee (DMICC) of NIDDK (2010). She has served on the Editorial Boards of the Journal of Biological Chemistry (1998-2003) and Diabetes (2003-2005).
Alex MacKenzie, CHEO Research Institute
Alex MacKenzie, an attending pediatrician at the Children’s Hospital of Eastern Ontario (CHEO) has served as the CEO and Science Director of the CHEO Research Institute as well as Vice President of Research for both CHEO and Genome Canada in addition to being founding scientist of the AeGera biotech company. Dr. MacKenzie’s laboratory has conducted translational research on the rare pediatric disorder spinal muscular atrophy over the past 25 years; in recent years has broadened its focus with its involvement in the enhance Care for Rare project to search for therapies for a larger number of rare diseases.
Philip Hieter, University of British Columbia
Philip Hieter is a Professor in the Michael Smith Laboratories and Department of Medical Genetics at the University of British Columbia. He received his Ph.D. in biochemistry from Johns Hopkins University in 1981 (with Phil Leder), trained as a postdoctoral fellow at Stanford (with Ron Davis), and was a faculty member at the Johns Hopkins University School of Medicine from 1985 -1997, where he was promoted to full professor in 1994. He moved to the University of British Columbia in 1997, and served as Director of the Michael Smith Laboratories until 2008. Dr. Hieter served as President of the Genetics Society of America in 2012. He is currently Chair of the CIHR Planning and Priorities Committee “Models and Mechanisms to Therapies”, and a Member of the Medical Advisory Board of the Gairdner Foundation. He is a Fellow of the Royal Society of Canada, Fellow of the Canadian Academy of Health Sciences, and Member of the American Academy of Arts and Sciences.
Dr. Hieter is recognized for his work on structural and regulatory proteins that ensure faithful segregation of chromosomes during cell division, including seminal studies on yeast centromeres, sister chromatid cohesion, and regulation of cell cycle progression during mitosis. His laboratory has recently established an extensive genome instability gene catalog in yeast that provides a resource to identify cross species, candidate human genes that are somatically mutated and cause chromosome instability in cancer. He has also developed a strategy to identify genes in yeast synthetic lethal interaction networks as a means for identifying novel cancer drug targets. Throughout his career, his work has demonstrated and advocated the value of model experimental organisms for understanding mechanisms of human disease.
Marc C. Patterson, Mayo Clinic
Marc Patterson was born and educated in Australia, and trained in neurology, child neurology and neurometabolic disease at the University of Queensland, at Mayo Clinic, and at NINDS/NIH, the last mentioned under the guidance of Roscoe Brady, MD. He is currently Professor of Neurology, Pediatrics and Medical Genetics, Chair of the Division of Child and Adolescent Neurology, and Director of the Child Neurology Training program at Mayo Clinic, having previously served as Professor and Director of Pediatric Neurology at Columbia University in New York. He currently serves as a member of the Neurology topic advisory group for revision of the ICD-10 of the World Health Organization, and leads the Education Core of the NIH-funded Lysosomal Disease Network.
He has served in a number of positions in the Child Neurology Society, American Academy of Neurology, American Board of Psychiatry and Neurology and American Neurological Association. Professor Patterson has served on the editorial board of Neurology, on the oversight committee of Annals of Neurology and is currently an Editor for the Journal of Inherited Metabolic Disease. He became Editor-in Chief of the Journal of Child Neurology on January 1st, 2014, and subsequently Editor-in-Chief of its open-access sister journal, Child Neurology Open.
His research and practice has focused on rare diseases in children, including multiple sclerosis and neurometabolic disorders, with special interests in Niemann-Pick disease, type C, other lysosomal diseases (including glycoproteinoses) and congenital disorders of glycosylation, areas in which he has published more than 180 peer-reviewed papers and book chapters. He has presented widely through the United States and internationally, both to professional and lay organizations. Dr Patterson has received funding support from NIH, industry and private foundations.
Sandra Sirrs, University of British Columbia
Dr. Sirrs trained in endocrinology and metabolism at the University of British Columbia. She went on to do further training in the care of patients with inborn errors of metabolism. In 1999, she opened the first freestanding clinic in Canada for adults with these disorders. Since 1999, the Vancouver clinic has grown to follow more than 2,000 patients.
Dr. Sirrs is a Clinical Associate Professor in the Division of Endocrinology at UBC. She is one of the 5 regional investigators for the Canadian Fabry Diseases Initiative and has participated in many other research trials involving lysosomal storage diseases. She has particular interest in the area of transition and has worked with provincial and international committees looking at the transition process for patients with various disorders.