POMPE EXCHANGE WEBINAR
Agenda
Evaluation – your chance to feedback on our meeting and shape the future of Pompe Exchange
Are you a licensed Healthcare Professional?
Confirm cancellation
An error occurred trying to play the stream. Please reload the page and try again.
Close
Dr Patrick Deegan is a consultant physician in general medicine and metabolic diseases. Dr Deegan's clinical postgraduate training began in diabetes and endocrinology, where he completed his MD research thesis on lipoprotein metabolism in diabetes. Dr Deegan gained consultant-level accreditation in clinical biochemistry and developed an interest in inherited metabolic diseases. He joined the Lysosomal Disorders team at Addenbrooke's in 2001 and became its clinical director in 2006. He is a member of the European advisory board of the ICGG Gaucher registry. His current research interests include biomarkers of lysosomal storage disease and cellular targeting of enzyme replacement therapies.
Dr Robin Lachmann qualified in 1990 and trained in general internal medicine before doing a PhD on the use of herpes simplex virus for gene delivery to the brain. He then combined ongoing research on gene delivery in mouse models of lysosomal storage disorders with training in metabolic medicine. In 2005, he took up his current position in the Charles Dent Metabolic Unit at University College London Hospitals. They provide multidisciplinary care for adults with inherited metabolic disorders, caring for about 2000 patients. Dr Lachmann is a previous chair of the SSIEM Adult Metabolic Physician Group, chair of the Scientific Committee of the Recordati Rare Diseases Foundation, a member of the Fetal, Maternal and Child Health Group of the UK National Screening Committee, and NHS England's National Specialty Advisor for Metabolic Disorders.
Dr Priya Kishnani, MD, MBBS, is the Chen Family Professor of Pediatrics, chief of the Division of Medical Genetics at Duke University Medical Center as well as medical director of the YT and Alice Chen Pediatrics Genetics and Genomics Center. Dr. Kishnani is certified by the American Board of Medical Genetics and the American Board of Biochemical Genetics. She also serves as the director of the Lysosomal Storage Disease Program, Biochemical Genetics Training Program, and Metabolic Clinic at Duke University Medical Center. She has served as a principle investigator on several clinical trials with a primary focus on the clinical implementation and development of new therapeutic interventions, specifically with a focus on enzyme replacement therapy and small molecules.
Dr Robin Lachmann qualified in 1990 and trained in general internal medicine before doing a PhD on the use of herpes simplex virus for gene delivery to the brain. He then combined ongoing research on gene delivery in mouse models of lysosomal storage disorders with training in metabolic medicine. In 2005, he took up his current position in the Charles Dent Metabolic Unit at University College London Hospitals. They provide multidisciplinary care for adults with inherited metabolic disorders, caring for about 2000 patients. Dr Lachmann is a previous chair of the SSIEM Adult Metabolic Physician Group, chair of the Scientific Committee of the Recordati Rare Diseases Foundation, a member of the Fetal, Maternal and Child Health Group of the UK National Screening Committee, and NHS England's National Specialty Advisor for Metabolic Disorders.
Dr Priya Kishnani, MD, MBBS, is the Chen Family Professor of Pediatrics, chief of the Division of Medical Genetics at Duke University Medical Center as well as medical director of the YT and Alice Chen Pediatrics Genetics and Genomics Center. Dr. Kishnani is certified by the American Board of Medical Genetics and the American Board of Biochemical Genetics. She also serves as the director of the Lysosomal Storage Disease Program, Biochemical Genetics Training Program, and Metabolic Clinic at Duke University Medical Center. She has served as a principle investigator on several clinical trials with a primary focus on the clinical implementation and development of new therapeutic interventions, specifically with a focus on enzyme replacement therapy and small molecules.
Dr Patrick Deegan is a consultant physician in general medicine and metabolic diseases. Dr Deegan's clinical postgraduate training began in diabetes and endocrinology, where he completed his MD research thesis on lipoprotein metabolism in diabetes. Dr Deegan gained consultant-level accreditation in clinical biochemistry and developed an interest in inherited metabolic diseases. He joined the Lysosomal Disorders team at Addenbrooke's in 2001 and became its clinical director in 2006. He is a member of the European advisory board of the ICGG Gaucher registry. His current research interests include biomarkers of lysosomal storage disease and cellular targeting of enzyme replacement therapies.
Dr Robin Lachmann qualified in 1990 and trained in general internal medicine before doing a PhD on the use of herpes simplex virus for gene delivery to the brain. He then combined ongoing research on gene delivery in mouse models of lysosomal storage disorders with training in metabolic medicine. In 2005, he took up his current position in the Charles Dent Metabolic Unit at University College London Hospitals. They provide multidisciplinary care for adults with inherited metabolic disorders, caring for about 2000 patients. Dr Lachmann is a previous chair of the SSIEM Adult Metabolic Physician Group, chair of the Scientific Committee of the Recordati Rare Diseases Foundation, a member of the Fetal, Maternal and Child Health Group of the UK National Screening Committee, and NHS England's National Specialty Advisor for Metabolic Disorders.
Dr Robin Lachmann qualified in 1990 and trained in general internal medicine before doing a PhD on the use of herpes simplex virus for gene delivery to the brain. He then combined ongoing research on gene delivery in mouse models of lysosomal storage disorders with training in metabolic medicine. In 2005, he took up his current position in the Charles Dent Metabolic Unit at University College London Hospitals. They provide multidisciplinary care for adults with inherited metabolic disorders, caring for about 2000 patients. Dr Lachmann is a previous chair of the SSIEM Adult Metabolic Physician Group, chair of the Scientific Committee of the Recordati Rare Diseases Foundation, a member of the Fetal, Maternal and Child Health Group of the UK National Screening Committee, and NHS England's National Specialty Advisor for Metabolic Disorders.
Dr Priya Kishnani, MD, MBBS, is the Chen Family Professor of Pediatrics, chief of the Division of Medical Genetics at Duke University Medical Center as well as medical director of the YT and Alice Chen Pediatrics Genetics and Genomics Center. Dr. Kishnani is certified by the American Board of Medical Genetics and the American Board of Biochemical Genetics. She also serves as the director of the Lysosomal Storage Disease Program, Biochemical Genetics Training Program, and Metabolic Clinic at Duke University Medical Center. She has served as a principle investigator on several clinical trials with a primary focus on the clinical implementation and development of new therapeutic interventions, specifically with a focus on enzyme replacement therapy and small molecules.
Dr Patrick Deegan is a consultant physician in general medicine and metabolic diseases. Dr Deegan's clinical postgraduate training began in diabetes and endocrinology, where he completed his MD research thesis on lipoprotein metabolism in diabetes. Dr Deegan gained consultant-level accreditation in clinical biochemistry and developed an interest in inherited metabolic diseases. He joined the Lysosomal Disorders team at Addenbrooke's in 2001 and became its clinical director in 2006. He is a member of the European advisory board of the ICGG Gaucher registry. His current research interests include biomarkers of lysosomal storage disease and cellular targeting of enzyme replacement therapies.
Dr Patrick Deegan is a consultant physician in general medicine and metabolic diseases. Dr Deegan's clinical postgraduate training began in diabetes and endocrinology, where he completed his MD research thesis on lipoprotein metabolism in diabetes. Dr Deegan gained consultant-level accreditation in clinical biochemistry and developed an interest in inherited metabolic diseases. He joined the Lysosomal Disorders team at Addenbrooke's in 2001 and became its clinical director in 2006. He is a member of the European advisory board of the ICGG Gaucher registry. His current research interests include biomarkers of lysosomal storage disease and cellular targeting of enzyme replacement therapies.