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For more than a decade, the center has aimed towards excellence in clinical care, research and education in Gaucher disease. The core mission is advancing patient care through cutting edge clinical translational research to enhance predictive evaluation and monitoring while offering a wide repertoire of therapies. Advances in Gaucher Disease 19 The center currently offers comprehensive clinical and research programs in Gaucher disease that include clinical trials, research utilizing disease Registries, mechanism of bone disease, whole genome analysis, biomarker discovery, multiple myeloma, liver cancers, Parkinson’s disease and authentic mouse models of Gaucher disease. It has a national and international referral base arising from its well-recognized expertise in managing the most complex and challenging patients with Gaucher disease. For more than a decade, the center has aimed towards excellence in clinical care, research and education in Gaucher disease. The core mission is advancing patient care through cutting edge clinical translational research to enhance predictive evaluation and monitoring while offering a wide repertoire of therapies. Spearheading the efforts of a multifaceted The center currently offers comprehensive clinical and research programs in Gaucher disease that include clinical trials, research utilizing disease Registries, mechanism of bone disease, whole genome analysis, biomarker discovery, multiple myeloma, liver cancers, Parkinson’s disease and authentic mouse models of Gaucher disease. It has a national and international referral base arising from its well-recognized expertise in managing the most complex and challenging patients with Gaucher disease. program and team is Pramod K. Mistry, MD, PhD, FRCP, Professor of Internal Medicine and Pediatrics, at the Yale University School of Medicine. He also serves as director of the National Gaucher Disease Treatment Center. “Yale has provided me with a rich environment to develop a nationally recognized clinical program for Gaucher disease and exciting collaborations that have led to the first authentic conditional KO mouse model of Gaucher disease and the first GWAS study in search for genetic modifiers of this extraordinary diverse Mendelian disease. I am proud for the opportunity to serve this patient population through membership of the advisory boards of National Gaucher Foundation (USA) and Project Hope’s Humanitarian Program for children of the world suffering from Gaucher disease.” Diagnosis and Patient Care The National Gaucher Disease Treatment Center brings together multidisciplinary expertise “We are then able to identify the optimal treatment path for each patient,” according to Dr Mistry. Diagnostic and Evaluation Testing consists of: • Comprehensive Lab Work • Novel biomarkers • Novel immune markers • Deep sequencing of Gaucher gene locus • Whole exome and whole genome sequenc- ing to search for modifier genes • MRI Imaging for volumetric assessment of liver and spleen • MRI imaging of the bone marrow to assess for infarction/AVN • DEXA bone mineral density imaging • Bone biomarkers • Radiology for evaluation of complex skeletal lesions • Echocardiogram and evaluation of pulmonary hypertension • Evaluation of antibody response in ERT • Evaluation for candidacy for SRT – Substrate Reduction Therapy The initial testing is conducted during a single day with follow-up frequency and duration determined by the needs of each patient. Additional information on the center’s diagnosis and patient care or to make an appointment, may be obtained by calling 203.785.3412 or 203.785.3197. Evaluating the Three Types of GD The National Gaucher Disease Treatment Center serves patients by evaluating: • Type 1, non-neuronopathic Gaucher disease - Osteoporosis - Avascular osteonecrosis - Multiple myeloma and other cancers - Parkinson’s disease - Advanced liver disease - Pulmonary hypertension • Type 2, acute neuronopathic Gaucher disease • Type 3, chronic neuronopathic Gaucher disease A comprehensive evaluation of Gaucher disease aims to assess the burden of disease and extent of injury in all organs:


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