Donna Krasnewich, MD, Ph.D.   Dr. Krasnewich is a board certified Clinical Biochemical Geneticist and Pediatrician. She trained at Wayne State University School of Medicine in Detroit, Michigan and received her M.D. and Ph.D. in Pharmacology in 1986. After completing her Fellowship in Genetics at the National Institutes of Health (NIH) she joined the faculty of the National Human Genome Research Institutes (NHGRI) at NIH and is currently the Deputy Clinical Director of NHGRI where she sees children with developmental delay and continues her research on Congenital Disorders of Glycosylation.
Phone: 301-402-8255  Email:  dkras@mail.nih.gov

Dr. Hudson Freeze
Hudson Freeze, Ph.D.  Dr. Freeze is Professor of Glycobiology, and Director of Glycobiology and Carbohydrate Chemistry Program at the Burnham Institute. He earned his Ph.D. from the University of California at San Diego in 1976. Subsequently he held fellowships in Biology, Medicine and Neurosciences at the same institution. In 1988 Dr. Freeze was recruited to The Burnham Institute. Dr. Freeze’s lab works on inherited diseases called Congenital Disorders of Glycosylation (CDG). The other major focus in Dr. Freeze’s lab is a new facet of how an unusual sugar chain modification is involved in “inflammation” including Crohn’s disease, ulcerative colitis, cancer, and arthritis.  Phone: 858-646-3142  Email: hudson@burnham.org

Dr. Bradley Miller
Bradley Miller, M.D., PhD.   Dr. Miller is an Assistant Professor at the University of Minnesota with an interest in the insulin-like growth factor (IGF) system. He is also interested in the endocrine aspects of abnormal glycosylation in children with CDG. Dr. Miller grew up in Illinois and the Upper Peninsula of Michigan. He attended Nothern Michigan University where he received a Bachelor of Science in Biochemistry. While at NMU, he became interested in basic science research. He pursued a combined MD/PhD as part of the Medical Scientist Training Program at the Medical University of South Carolina in Charleston, South Carolina. His research at MUSC involved the cellular signaling of the insulin and IGF-1 receptors. He returned to the Midwest for training in Pediatrics and Pediatric Endocrinology at the Mayo Clinic in Rochester, MN. While at the Mayo Clinic, he first became involved in caring for children with CDG. Dr. Miller was involved in studies at Mayo Clinic to help understand how protein glycosylation impacts the growth cascade.   Email: mille685@umn.edu

Dr. Fernando Scaglia
Fernando Scaglia, M.D.  Dr Scaglia is a clinical and biochemical geneticist who currently is an Assistant Professor of Genetics at the Dept. of Molecular and Human Genetics. He received his M.D. at University of La Plata, Buenos Aires, Argentina and completed his pediatric residency and fellowship training in Medical Genetics at Emory University School of Medicine. He currently works and conducts research in the area of biochemical genetics, with an emphasis on clinical reseach involving the study of the natural history and potential treatment of mitochondrial encephalomyopathies, the use of stable isotope studies for characterization of urea cycle disorders, and the clinical and molecular characterization of cerebral folate deficiency. He is also interested in the vlinical characterization of CDG, a group of disorders whose presentation, with multiorgan involvement, could sometimes mimic mitochondrial encephalomyopathies. Phone: 832-822-4292  Email: fscaglia@bcm.tmc.edu

Dr. Jaak Jaeken
Jaak Jaeken, MD, Ph.D  Dr. Jaak Jaeken is a full Professor at the Faculty of Medicine at the University of Leuven, Belgium. He studied Pediatric Medicine at the University of Leuven (Katholieke Universiteit Leuven) where he received his MD and PhD. After completing his Fellowship at the University of Zurich he became Director of the Center for Metabolic Diseases at the University of Leuven. In 1980 Dr. Jaeken was the very first doctor to publish his description of CDG. Today Dr. Jaeken continues to collect and examine new cases of this rapidly expanding group of genetic diseases and test new methods of diagnosis and therapy on patients when they are available.  Email:  jaak.jaeken@uz.kuleuven.ac.be

Dr. Thierry Hennet
Thierry Hennet, PhD  Dr. Hennet is Assistant Professor at the Faculty of Medicine at the University of Zurich. He studied Biology at the University of Bern and received his PhD in biology in 1992. His Post Doc work was at the Biomedical Research Center at the University of British Columbia in Vancouver, followed by the Howard Hughes Medical Institute at the University of California in San Diego. In 1996 he joined the Physiological Institute at the University of Zurich as a research assistant. Dr Hennet's research group is searching for new forms of CDG, especially for glycosylation disorders that are related to dysfunctions of specific organs and tissues. In addition,they are trying to develop a therapy for CDG-I based on a pharmacological upregulation of N-glycosylation.  Email: thennet@access.unizh.ch

Dr. Gert Matthijs
Gert Matthijs, PhD  Dr. Matthijs has a PhD in pharmaceutical sciences and is a certified specialist in clinical molecular genetics. He is the head of the Laboratory for Molecular Diagnostics at the Center for Human Genetics in Leuven, Belgium, and a professor at the University of Leuven. His research interest is in CDG. The gene for CDG-Ia was first cloned in his laboratory, back in 1996, and his group has been involved in the elucidation of different other types of CDG. He is also the Coordinator of EUROGLYCANET, a European Network for the systematic study of CDG and related diseases (www.euroglycanet.org). The network offers expert testing for CDG, and is of course also interested in novel types of the disease. Leuven acts as a reference centre in the context of the network. The Laboratory for Molecular Diagnostics is offering genetic testing for the different types of CDG, including prenatal diagnosis.