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Researchers

CDG Hub helps build and strengthen the CDG community by connecting patients with scientists at the forefront of cutting-edge research in the field. Only through collaboration can we accelerate scientific discoveries and charter a path to a cure for CDG.

The list of researchers is updated monthly. If you are researcher working on CDG and/or glycobiology and would like to be added to this list, please contact CDG Hub.

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  • Location: Hannover, Germany
  • Institution: Hannover Medical School, Institute of Clinical Biochemistry
  • Area of Expertise: Glycobiology
  • Research Summary: Dr. Bakker is a member of the FOR 2509 research consortium focused on understanding the molecular pathology of dolichol-based glycosylation disorders. Dr. Bakker's research expertise is in glycosyltransferases, C-mannosylation, and protein glycosylation of small repeats. Dr. Bakker's work includes identification of several new glycosyltransferases including xylosyltransferases and the C-mannosyltransferase.
  • Website: View contact information
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  • Location: Catania, Italy
  • Institution: University of Catania
  • Area of Expertise: CDG Discovery , Clinical Studies , Pathophysiology
  • Location: Stanford, CA, United States
  • Institution: Stanford University, Howard Hughes Medical Institute
  • Area of Expertise: Glycobiology , Therapy Development
  • Research Summary: Dr. Bertozzi's research focuses on developing chemical tools to profile changes in cell surface glycosylation associated with various diseases and harnessing these discoveries for the development of diagnostic and therapeutic approaches. Her research is also focused on Ngly1 deficiency.
  • Website: View contact information
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  • Location: Lisbon, Portugal
  • Institution: UCIBIO NOVA School of Science and Technology, NOVA University Lisbon
  • Area of Expertise: Pathophysiology , Therapy Development
  • Research Summary: Dr. Brasil's research is focused on understanding the immunological aspects of CDG has published numerous reviews on CDG.
  • Website: View contact information
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  • Location: Heidelberg, Germany
  • Institution: Heidelberg University, Biochemistry Center (BZH)
  • Area of Expertise: Glycobiology
  • Research Summary: Dr. Brügger is a member of the FOR 2509 research consortium focused on understanding the molecular pathology of dolichol-based glycosylation disorders. Dr. Brügger specializes in membrane biochemistry and is a leader in the field of lipidomics. Dr. Brugger's research group is focused on investigating the roles of lipids in modulating activities of glycosylation enzymes and and how CDG affects intracellular lipid homeostasis.  
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  • Location: Hannover, Germany
  • Institution: Hannover Medical School, Institute of Clinical Biochemistry
  • Area of Expertise: Cellular and Animal Models , Glycobiology
  • Research Summary: Dr. Büttner is a member of the FOR 2509 research consortium focused on understanding the molecular pathology of dolichol-based glycosylation disorders. Dr. Büttner's research focuses on the development and application of tools to analyze the glycome/proteome during early human development using human pluripotent stem cell models of CDG. In analyzing changes in the glycome in various iPSCs derived from CDG patients, Dr. Büttner's research group aims to provide novel insight into the molecular pathogenesis of CDG.  
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  • Location: Paris, France
  • Institution: Imagine Institute of Genetic Diseases
  • Area of Expertise: Cellular and Animal Models , Pathophysiology
  • Research Summary: Dr. Cantagrel's research interests are in investigating the genetic basis and molecular mechanisms of developmental brain disorders. His research is focused on deciphering the genetic architecture of cognitive defects in several developmental brain disorders  (including CDG) and the role of the cerebellum in cognitive development. His research led to the discovery of SRD5A3-CDG and the generation and characterization of a conditional cerebellum Srd5a3 knockout mouse.  
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  • Location: Seattle, WA, United States
  • Institution: Seattle Children's Hospital
  • Area of Expertise: Clinical Studies
  • Location: Salt Lake City, UT, United States
  • Institution: University of Utah School of Medicine
  • Area of Expertise: Cellular and Animal Models , Pathophysiology , Therapy Development
  • Research Summary: Dr. Chow's research is focused on understanding the role of genetic varition on disease outcomes as well as the development of precision medicine to treat rare disease. CDG research in his lab includes generating fly knockout models of CDG (including NGLY1-CDG, PIGA-CDG and DPAGT1-CDG) and identifying genetic modifiers that may serve as potential therapeutic targets.
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  • Location: Boston, MA, United States
  • Institution: Harvard University
  • Area of Expertise: Glycobiology , Pathophysiology
  • Research Summary: Dr. Cumming's research focuses on understanding the structure and function of sugar chains in cell adhesion and signalling and studying the molecular and biochemical function of glycoproteins.
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  • Location: Paris, France
  • Institution: Hôpital Necker-Enfants Malades AP-HP Reference Center for Inherited Metabolic Diseases
  • Area of Expertise: Clinical Studies , Metabolism
  • Research Summary: Dr. de Lonlay is the head of the French national reference center for inherited metabolic diseases in children and adults (MAMEA). Her clinical research is focused on the diagnosis, natural history and treatment of metabolic diseases including CDG.
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  • Location: Lisbon, Portugal
  • Institution: UCIBIO NOVA School of Science and Technology, NOVA University Lisbon
  • Area of Expertise: Therapy Development
  • Research Summary: Dr. Dos Reis Ferreira is focused on patient-centric research and drug development for CDG and has published numerous reviews on CDG.
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  • Location: Philadelphia, PA, United States
  • Institution: Children's Hospital of Philadelphia
  • Area of Expertise: Clinical Studies , Pathophysiology , Therapy Development
  • Research Summary: Dr. Edmondson's research is focused on uncovering the molecular mechanisms underlying dysfunctional glycosylation in mouse and cellular models of CDG. His lab is currently working on developing various mouse models of CDG. Dr. Edmondson is an investigator on several CDG clinical trials and studies and leads the CDG Clinic at the Children's Hospital of Philadelphia (CHOP).
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  • Location: Clemson, SC, United States
  • Institution: Clemson University, Center for Human Genetics
  • Area of Expertise: Cellular and Animal Models , Pathophysiology
  • Research Summary: Dr. Flanagan-Steet's research is focused on defining the molecular and cellular mechanisms underlying the pathogenesis of rare genetic diseases - particularly CDG and lysosomal storage disorders. Research in her lab is currently using a zebrafish model organism to investigate PMM2-CDG disease mechanisms.
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  • Location: Lille, France
  • Institution: Université de Lille, CNRS - Structural and Functional Glycobiology Unit (UGSF)
  • Area of Expertise: CDG Discovery , Glycobiology , Pathophysiology
  • Research Summary: Dr. Foulquier's research interests are in identifying new molecular mechanisms of CDG, particularly those involved in ER/Golgi ion homeostasis. His research has contributed to the discovery and characterization of novel CDG types including TMEM165-CDG and CAML-CDG, as well as the second known congenital disorder of deglycosylation, MAN2C1-CDDG.
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  • Location: La Jolla, CA, United States
  • Institution: Sanford Burnham Prebys, Sanford Children's Health Research Center
  • Area of Expertise: CDG Discovery , Pathophysiology , Therapy Development
  • Research Summary: Dr. Freeze is a world leader in glycobiology and CDG discovery. His research focuses on identifying new glycosylation disorders and employs a multi-disciplinary strategy using animal models, biochemical analysis and cell and molecular biology approaches to understand the pathology of these disorders. Dr. Freeze's research group discovered (and treated) the first patient with MPI-CDG (CDG-Ib) and has since discovered numerous CDG types.  Through collaborations with physicians and family organizations, Dr. Freeze has helped diagnose many CDG patients with previously unknown glycosylation defects.  
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  • Location: San Diego, CA, United States
  • Institution: University of California, San Diego
  • Area of Expertise: CDG Discovery , Cellular and Animal Models , Clinical Studies , Therapy Development
  • Research Summary: Dr. Gleeson's research is focused on investigating genetic causes and treatments for pediatric brain diseases.Areas of focus in his lab include somatic mosaicism, gene-environment interactions, novel therapeutics and brain organoid modeling.
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  • Location: Philadelphia, PA, United States
  • Institution: Children's Hospital of Philadelphia; Perelman School of Medicine at the University of Pennsylvania
  • Area of Expertise: Diagnostics , Metabolism
  • Research Summary: Dr. He is the co-director of metabolic and advanced diagnostics at the Children's Hospital of Philadelphia and a professor at the Perelman School of Medicine at the University of Pennsylvania. Dr. He's research and clinical expertise are in the diagnosis of CDG by complexed carbohydrate analysis and glycomic biomarkers for inherited metabolic diseases.
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  • Location: Leuven, Belgium
  • Institution: Leuven University
  • Area of Expertise: CDG Discovery , Pathophysiology , Therapy Development
  • Research Summary: Dr. Jaeken was the first to describe CDG in patients and has since discovered numerous CDG types and characterized their clinical presentations.
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  • Location: Houston, TX, United States
  • Institution: Baylor College of Medicine
  • Area of Expertise: Cellular and Animal Models , Glycobiology , Pathophysiology
  • Research Summary: Dr. Jafar-Nejad's lab uses drosophila and mouse genetics, cell culture experiments and biochemical assays to understand the role of glycosylation in animal development and pathophysiology of human disease. A major focus of the lab is on glycosyltransferases that add O-glucose glycans to epidermal growth factor-like (EGF) repeats and their role in the regulation of the Notch signaling pathway. His lab also uses fly and mouse models to understand the pathophysiology of NGLY1 deficiency and identify potential therapeutic targets for this disease.  
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  • Location: Osaka, Japan
  • Institution: Research Institute for Microbial Diseases, Osaka University
  • Area of Expertise: Cellular and Animal Models , Glycobiology
  • Research Summary: A key area of Dr. Kinoshita's research is focused on uncovering the function of all genes involves in the biosynthesis, processing and transport of GPI-anchored proteins and how defects in these processes lead to diseases like CDG.
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  • Location: Rochester, MN, United States
  • Institution: Mayo Clinic
  • Area of Expertise: Cellular and Animal Models , Therapy Development
  • Research Summary: Dr. Kozicz's research involved investigating novel therapeutic approaches to congenital disorders of glycosylation, including dietary therapies. Dr. Kozicz lab also uses preclinical animal models and iPSC-derived neurons to investigate the role of mitochondrial dysfunction in mental illness.
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  • Location: Salt Lake City, UT, United States
  • Institution: University of Utah School of Medicine
  • Area of Expertise: CDG Therapy Development , Cellular and Animal Models , Pathophysiology
  • Research Summary: Dr. Lai's research is focused on therapeutic development and mouse models of inborn errors of metabolism. Research in Dr. Lai's lab is currently focused on elucidating underlying disease mechanisms for PGM1-CDG using a novel mouse model and developing therapies for this CDG.
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  • Location: Seattle, WA, United States
  • Institution: Seattle Children's Hospital
  • Area of Expertise: CDG Discovery , Clinical Studies
  • Research Summary: Dr. Lam's research focuses on the clinical aspect of inborn errors of metabolism, especially CDGs and NGLY1-CDDG. Dr. Lam is an investigator of the multi-centre study on the natural history of CDG and a clinical trial of acetazolamide therapy in PMM2-CDG and other CDG clinical studies. Dr. Lam is the Director of CDG Center of Excellence at Seattle Children's Hospital.
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  • Location: Nijmegen, Netherlands
  • Institution: Radboud University Medical Center
  • Area of Expertise: Biomarker Discovery , CDG Discovery , Pathophysiology , Therapy Development
  • Research Summary: Dr. Lefeber research focus is on elucidation of novel human genetic disorders of glycosylation, development of novel methods to facilitate CDG diagnostics and understanding of the pathophysiology in CDG.
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  • Location: Münster, Germany
  • Institution: University Hospital of Münster
  • Area of Expertise: Clinical Studies , Diagnostics , Therapy Development
  • Location: Cuernavaca, Mexico
  • Institution: Cell Dynamics Research Center of the Morelos State Autonomous University
  • Area of Expertise: Diagnostics , Glycobiology
  • Research Summary: Dr. Martinez Duncker's laboratory focuses on the diagnosis and research of CDG including the identification of novel mutations in various CDG types. His research also focuses on the characterization of nuclear sugar transporters, the role of glycans in infections and characterizing glycocongugates in T-cells.
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  • Location: Leuven, Belgium
  • Institution: Centre of Human Genetics, UZ Leuven
  • Area of Expertise: CDG Discovery , Diagnostics
  • Research Summary: Dr. Matthijs is focused on identifying new CDG types as well as the development and validation of novel diagnostic methods to aid in their diagnosis.
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  • Location: Rochester, MN, United States
  • Institution: Mayo Clinic
  • Area of Expertise: Biomarker Discovery , CDG Discovery , Clinical Studies , Therapy Development
  • Research Summary: Dr. Morava-Kozicz conducts translational research on inherited metabolic disorders including CDG and mitochondrial disorders. Her research is focused in discovering and characterizing new CDG types and mitochondrial disorders and developing therapies for CDG. Dr. Morava-Kozicz is the principal investigator of a multi-centre study on the natural history of CDG and clinical trial of epalrestat therapy in PMM2-CDG, an investigator of clinical trial of acetazolamide therapy in PMM2-CDG and other CDG clinical studies.
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  • Location: Tartu, Estonia
  • Institution: University of Tartu
  • Area of Expertise: CDG Discovery , Clinical Studies , Diagnostics
  • Research Summary: Dr. Õunap's research interests are in identifying the genetic causes of rare genetic and metabolic disorders , including CDG, as well as determining their prevalence across various populations.
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  • Location: Rochester, MN, United States
  • Institution: Mayo Clinic
  • Area of Expertise: Biomarker Discovery , Diagnostics , Glycobiology
  • Research Summary: Dr. Pandey's research interests are in developing novel assays for clinical diagnostics and in using systems biology approaches to study a variety of human diseases, including CDG.  He has pioneered methods for quantitative proteomics, analysis of post-translational modifications, protein-protein interactions and proteogenomics. Dr. Pandey's research group has developed cutting-edge glycoproteomic methods which have led to the discovery of novel diagnostic and therapeutic biomarkers in CDG, including PMM2-CDG.
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  • Location: Leuven, Belgium
  • Institution: KU Leuven Center for Human Genetics
  • Area of Expertise: CDG Discovery , Diagnostics
  • Research Summary: In the Laboratory for Molecular Diagnosis at KU Leuven, Dr. Peanne and the research group lead by Dr. Gert Matthijs focus on systematically searching for novel types of CDG, as well as development of diagnostic tools for CDG.
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  • Location: Madrid, Spain
  • Institution: Universidad Autónoma de Madrid
  • Area of Expertise: Diagnostics , Metabolism , Therapy Development
  • Research Summary: Dr. Pérez‘s research is in translational medicine in inborn errors of metabolism and other rare genetic diseases, specifically aimed at identifying genes involved in neurometabolic pathologies and developing pharmacological chaperones as a therapy for metabolic diseases.
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  • Location: Oakland, CA, United States
  • Institution: Perlara Guided Cures
  • Area of Expertise: Cellular and Animal Models , Therapy Development
  • Research Summary: Dr. Perlstein's research focused on developing animal models for CDG and using them to screen for repurposed drug candidates. His research lead to the identification of epalrestat as a repurposed drug for the treatment of PMM2-CDG which is now being investigated in a clinical trial. Dr. Perlstein is the CEO of Perlara, a biotech company that partners with families to develop therapies for rare diseases - including several CDGs.
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  • Location: Porto, Portugal
  • Institution: Centro Hospitalar Universitario do Potro - Centro de Genetic Medica & Centro Referencie Doencas Hereditarias do Metabolismo; University of Porto - Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute
  • Area of Expertise: Diagnostics , Metabolism
  • Research Summary: Dr. Quelhas' contribution to CDG research is in the area of CDG diagnosis, aiming to improve and optimize diagnositic testing.
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  • Location: Magdeberg, Germany
  • Institution: Max Planck Institute, Bio/Process Analytics Group
  • Area of Expertise: Biomarker Discovery , Glycobiology
  • Research Summary: Dr. Rapp is a member of the FOR 2509 research consortium focused on understanding the molecular pathology of dolichol-based glycosylation disorders. Dr. Rapp's research focuses on the development and implementation of cutting edge tools for proteomics, glycoproteomics, and glycomes to enable in-depth analysis of complex samples. These techniques are applied to better understand glycobiology and enable the discover of biomarkers in CDG.
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  • Location: Heidelberg, Germany
  • Institution: Heidelberg University, Center for Molecular Biology (ZMBH)
  • Area of Expertise: Glycobiology
  • Research Summary: Dr. Ruppert is a member of the FOR 2509 research consortium focused on understaning the molecular pathology of dolichol-based glycosylation disorders. Dr. Ruppert has expertise in protein characterization by mass spectrometry and quantitative proteomics, and contributed to the development of a new method for the discovery of mammalian O-mannose glycopeptides.
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  • Location: Minneapolis, MN, United States
  • Institution: University of Minnesota Department of Pediatrics
  • Area of Expertise: Endocrinology , Metabolism
  • Research Summary: Dr. Sarafoglou specializes in rare endocrine and metabolic disorders holding multidisciplinary clinics that care for patients with congenital adrenal hyperplasia and disorders of sex development, hypophosphatasia, Turner syndrome, and inborn errors of metabolism (congenital disorders of glycosylation).
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  • Location: Atlanta, GA, United States
  • Institution: Emory University School of Medicine
  • Area of Expertise: CDG Therapy Development , Cellular and Animal Models , Pathophysiology
  • Research Summary: Dr. Sloan's research group is interested in the cellular events that coordinate human brain development and in understanding neuron-glial interactions in health and disease. His group is generating CDG patient-specific 3D cortical organoid models to investigate how glycosylation enzymes affect developing human neurons and glia and for conducting repurposed drug screens.
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  • Location: Heidelberg, Germany
  • Institution: Heildelberg University, Centre for Organismal Studies (COS)
  • Area of Expertise: Glycobiology
  • Research Summary: Dr. Strahl is a member of the FOR 2509 research consortium focused on understanding the molecular pathology of dolichol-based glycosylation disorders. Dr. Strahls' research is primarily focused on investigating protein O-mannosylation in yeast and mammals. Her research group has identified the first protein O-mannosyltransferase (PMT1) in yeast and has made signification contributions to the understanding of protein O-mannosylation in eukaryotes.
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  • Location: Saitama, Japan
  • Institution: RIKEN
  • Area of Expertise: Cellular and Animal Models , Glycobiology , Pathophysiology
  • Research Summary: Dr. Suzuki's research is focused on characterizing non-lysosomal catabolism of N-glycoproteins and the functional role of NGLY1 in various organisms. Dr. Suzuzki has generated and characterized several Ngly1 knockout rodent models.
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  • Location: Heidelberg, Germany
  • Institution: University of Heidelberg, Center for Child and Adolecent Medicine
  • Area of Expertise: CDG Discovery , Cellular and Animal Models , Pathophysiology , Therapy Development
  • Research Summary: Dr. Thiel's research group focuses on identifying novel CDG, investigating the pathophysiological processes of CDG, and developing therapeutic strategies. Dr. Thiel's research group has successfully identified molecular causes of 10 different CDG types and generated mouse models for PMM2-CDG and SLC35C1-CDG and a frog model for PMM2-CDG.
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  • Location: Heidelberg, Germany
  • Institution: Heidelberg University, Centre for Organismal Studies (COS)
  • Area of Expertise: Glycobiology
  • Research Summary: Dr. Thumberger is a member of the FOR 2509 research consortium focused on understanding the molecular pathology of dolichol-based glycosylation disorders. Dr. Thumberger's research group is focused on generating knockout fish models of CDG to understand the role of glycosylation during neural development.  
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  • Location: Warsaw, Poland
  • Institution: Children's Memorial Health Institute
  • Area of Expertise: Clinical Studies , Pathophysiology
  • Research Summary: Dr. Tylki-Szymanska is focused on characterizing the clinical spectrum and pathophysiology of numerous CDG types and is also interested in the epidemiology of CDG.
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  • Location: Brussels, Belgium
  • Institution: de Duve Institute
  • Area of Expertise: Metabolism
  • Research Summary: Dr. Van Schaftigen's work with Dr. Veiga da Cunha focuses on the elucidation of inborn errors of metabolism with goals of identifying unknown genes and new enzymes, particularly metabolite repair enzymes.
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  • Location: Brussels, Belgium
  • Institution: de Duve Institute
  • Area of Expertise: Metabolism
  • Research Summary: Dr. Veiga da Cunha's work with Dr. Van Schaftingen focuses on the elucidation of inborn errors of metabolism with goals of identifying unknown genes and new enzymes, particularly metabolite repair enzymes.
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  • Location: Lisbon, Portugal
  • Institution: UCIBIO NOVA School of Science and Technology, NOVA University Lisbon
  • Area of Expertise: Pathophysiology , Therapy Development
  • Research Summary: Dr. Videira's  research is focused on the physiological and pathological roles of glycosylation in cancer and CDG from a glycoimmunology perspective with the goal of developing immunotherapies. Dr. Videira is the Director of CDG & Allies -PPAIN.
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  • Location: Heidelberg, Germany
  • Institution: Heidelberg University, Centre for Organismal Studies (COS)
  • Area of Expertise: Cellular and Animal Models , Glycobiology
  • Research Summary: Dr. Wittbrodt is a member of the FOR 2509 research consortium focused on understanding the molecular pathology of dolichol-based glycosylation disorders. Dr. Wittbrodt's research is focused on understanding the mechanisms of neuronal development, growth and generating in the eye and brain using fish as a model system. His research group has generated zebrafish knock-out lines for key glycosylation enzymes.
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  • Location: Leuven, Belgium
  • Institution: Centre for Metabolic Diseases, UZ Leuven
  • Area of Expertise: Clinical Studies , Pathophysiology
  • Research Summary: Dr. Witters studies how CDG affects the liver. By investigating the liver involvement in CDG, his research aims to identify treatments for the liver disease in CDG patients.
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