HCU NETWORK AMERICA - Key Persons
Job Titles:
- Dietitian at the Johns Hopkins Hospital
- Medical Advisor
Angela Pipitone is a metabolic dietitian at The Johns Hopkins Hospital in Baltimore, MD, United States. Angela specializes in medical nutrition therapy for inborn errors of metabolism, including homocystinuria and other methylation defects. She holds a Bachelor of Science degree from the University of Delaware with a major in Dietetics, minoring in Psychology. She went on to complete her dietetic internship with a clinical focus at Johns Hopkins Bayview Medical Center in Baltimore, MD. Licensed and registered to practice as a dietitian in the state of Maryland, she began her career in 2009 at Suburban Hospital in Bethesda, MD, as a clinical dietitian in the adult intensive care unit. The realization that she wanted to specialize and work with both the pediatric and adult population led her back to Baltimore in 2013, when her passion for working with and treating metabolic patients began.
Angela is a constant on the Hopkins metabolic service, providing medical nutrition therapy for inpatients in metabolic crisis and continuity of care for these same patients in the outpatient clinic. She firmly recognizes the importance of patient-specific diet treatment and education, noting that all metabolic patients within the same diagnosis are uniquely different. She enjoys working with patients and fami-lies to problem-solve issues that arise surrounding diets and formulas, and eagerly attempts to "make food fun." Angela also enjoys writing, both for research purposes and for fun, and loves unleashing her creativity under her alias, "Methia," for HCU Network America.
Benjamin Goodlett earned his doctorate in clinical psychology from Wayne State University, and he is currently a postdoctoral fellow in the Metabolism Clinic, Division of Genetics and Genomics, at Boston Children's Hospital. He provides neuropsychological assessments to children and adolescents with metabolic disorders to monitor cognitive functioning, assist educational planning, and provide concrete recommendations for families. Ben also provides psychotherapy to children and adults with impacted by metabolic disorders with a focus on family functioning, adherence to medically necessary behaviors, and finding an identity beyond diagnosis. His passion is helping families balance medical needs with everyday life.
Dr Andrew Morris, (Co-chair of SAB), BM, BCh, PhD, Consultant and Senior Lecturer in Paediatric Metabolic Medicine, Willink Metabolic Unit, Manchester University Hospitals NHS Trust, UK. Read Dr. Morris' bio
Job Titles:
- Member of the Board
- Medical Advisor
- Senior Physician in Medicine / Genetics at Boston Children 's Hospital
Dr. Harvey Levy is Senior Physician in Medicine/Genetics at Boston Children's Hospital and Professor of Pediatrics at Harvard Medical School. He has devoted his career of 50 years to the diagnosis, research, and treatment of metabolic disorders.
Following graduation from the Medical College of Georgia Dr. Levy trained in pediatrics in Boston, New York, and Baltimore. Following pediatric training, Dr. Levy then served a fellowship in metabolic disorders at the Massachusetts General Hospital (MGH) under Dr. Mary Efron, a pioneer in metabolism. After completing this training, Dr. Levy joined the faculty of the MGH and Harvard and also served as Consultant in Metabolism to the Massachusetts Newborn Screening Program. In 1978, Dr. Levy moved to Boston Children's Hospital to found and serve as Director of the Metabolic Program, now the Biochemical Genetics section of the Division of Genetics.
Dr. Levy developed a specific interest in Homocystinuria during his fellowship when he identified the first case diagnosed from newborn screening. Shortly thereafter he and Dr. Harvey Mudd discovered the first example of increased homocysteine due to a non-homocystinuric disorder, now known as cobalamin C defect. This was also the first example of a human disorder of vitamin B12 metabolism. Disorders of sulfur metabolism have continued to be a major interest of Dr. Levy throughout his career. He has authored over 400 medical articles and book chapters on metabolic disorders, including many on the homocystinemias, and has received a number of national and international awards for his achievements.
Job Titles:
- Physician in Clinical Genetics and Metabolism at Children 's Hospital Colorado
Dr. James Weisfeld-Adams is an attending physician in Clinical Genetics and Metabolism at Children's Hospital Colorado and an Assistant Professor of Pediatrics, University of Colorado, Denver, United States. He has a clinical focus in inherited metabolic diseases, hereditary eye diseases, and neurogenetic conditions, and a particular research focus on clinical outcomes in patients with homocystinurias, especially the cobalamin C (cblC) defect and other inherited disorders of intracellular cobalamin (B12) metabolism. He takes care of patients of all ages with homocystinurias, cobalamin disorders, and remethylation defects as well as dozens of other inherited metabolic disorders.
Dr. Weisfeld-Adams obtained his medical degree (M.B., Ch.B.) from University of Aberdeen, Scotland in 2003, and then completed residencies in Child Neurology at the Royal Hospital for Sick Children (Glasgow, Scotland) and Bristol Children's Hospital (Bristol, England), before completing a 5-year residency program in Pediatrics and Medical Genetics at Mount Sinai School of Medicine, New York, NY, and a fellowship in Biochemical Genetics, also at Mount Sinai School of Medicine. He was the recipient of the ACMG Foundation/Genzyme National Fellowship Award for Biochemical Genetics in 2012. Dr. Weisfeld-Adams is US board-certified in Pediatrics and Clinical Genetics.
Since his appointment at Children's Hospital Colorado and University of Colorado-Denver in 2013, Dr. Weisfeld-Adams has divided his time between clinical responsibilities and clinical research, and is active in student, resident and fellowship educational programs at the University of Colorado-Denver School of Medicine. His interests include disease mechanisms in several inherited metabolic, neurometabolic and ocular disorders including defects in cobalamin metabolism, disorders of myelin development, and newborn screening algorithms for the early detection of rare metabolic diseases. He has a particular clinical interest in developing multi-center prospective and collaborative registries for patients with rare metabolic diseases, so that more can be learned about these diseases to inform development of effective therapeutic strategies. He has more than 25 peer-reviewed publications on rare inherited diseases, including several on cobalamin defects, and has authored a book chapter on hyperhomocystinemia. Dr. Weisfeld-Adams is also the Children's Hospital Colorado site lead investigator for the Urea Cycle Disorders Consortium (UCDC) longitudinal study, and is involved in several clinical trials for rare disease therapeutics.
Job Titles:
- Member of the Board
- Medical Advisor
- Physician in Genetics and Metabolism at Children 's National
Dr. Kimberly Chapman is an attending physician in Genetics and Metabolism at Children's National and an Assistant Professor of Pediatrics and Integrated Systems Biology at George Washington University in Washington DC, United States. She specializes in taking care of all ages of individuals with defects of methylation, homocysteine and propionate metabolism.
Dr. Chapman graduated Summa Cum Laude with a Bachelor of Science in Chemistry and a Bachelor of Arts in Biology from Saint Louis University (St. Louis, MO, US). She then went on to earn a Medical Degree and Doctor of Philosophy from the University of Nebraska (US). Then, she completed internships and residencies in internal medicine and pediatrics at the University of Pittsburgh Health Sciences Center. Finally, she completed residency and fellowship in Clinical Genetics and Clinical Biochemical Genetics at the Children's Hospital of Philadelphia. Dr. Chapman is US board certified in Pediatrics, Internal Medicine, Clinical Genetics and Clinical Biochemical Genetics.
She currently divides her time between clinical responsibilities, clinical research including several patient registries and other clinical trials, and a basic science laboratory which studies the Propionate pathway and Krebs cycle. She firmly believes that clinical care informs bench research and research enhances clinical care. Thus, with collaborators, she is exploring and designing novel therapeutics for a number of the metabolic disorders.
Job Titles:
- Adjunct Professor of Pathology, and Adjunct Professor of Nutrition
- Medical Advisor
- Professor
Dr. Longo is a professor of Pediatrics, adjunct professor of Pathology, and Adjunct Professor of Nutrition and Integrative Physiology at the University of Utah School of Medicine. Dr. Longo earned his M.D. and Ph.D. in Molecular Biology at the University of Parma School of Medicine in Italy. He received residency and fellowship training in pediatrics, medical genetics, and clinical biochemical genetics at Emory University in Atlanta, Georgia. He joined the University of Utah in 2001 and is now the Director of the Metabolic Service, Co-Director of the biochemical Genetics laboratory at ARUP, Director of the Fellowship Training Program in Medical Biochemical Genetics, and Chief of the Division of Medical Genetics. He is an expert in inherited metabolic diseases and is intimately involved in the treatment of patients with these diseases at Primary Children's Medical Center. His basic and clinic research covers disorders of fatty acid oxidation and carnitine metabolism and the development of novel treatments for metabolic disorders including phenylketonuria, organic acidemias, urea cycle disorders, and lysosomal storage disorders.
Born and raised in Iowa, Dr. Thomas attended Loras College in Dubuque, Iowa for an undergraduate degree in biology before attending the University of Iowa College of Medicine. She did her pediatric training at the University of Arizona Health Sciences Center and then completed her genetics training at the University of Colorado School of Medicine. Subsequently, she joined the faculty of the University of Colorado School of Medicine in 1996 and has since remained there as an active member of the Department of Pediatrics, Section of Clinical Genetics and Metabolism.
Dr. Thomas has devoted most of her time to caring for individuals of all ages with inborn errors of metabolism in the Rocky Mountain region. She has a particular interest in lysosomal storage disorders (especially the MPS disorders), phenylketonuria, newborn screening, and regional care. She is a faculty member of the UCDHSC Human Medical Genetics Program and a member of the State of Colorado Newborn Screening Program Stakeholders Committee. In addition, she is the Co-Program Director for the Mountain States Regional Genetics Network, an organization focused on regional and national delivery of genetic services including underserved populations, telegenetics, consumer advocacy and resources, and health care policy. Past positions have included Interim Section Head of the Section of Clinical Genetics and Metabolism, the Director of the Inherited Metabolic Diseases Clinic at Children's Hospital Colorado, and Director of the University of Colorado Medical Genetics Residency Program. Teaching medical students, pediatric and genetic residents, and graduate genetic counseling students is also a part of her duties. She has been actively involved in therapeutic research for PKU, lysosomal storage disorders, urea cycle disorders, and homocystinuria.
Krista Viau, PhD, RD is a metabolic dietitian at Boston Children's Hospital. She has been working with children and adults with inherited metabolic disorders for 9 years. Krista is a recent addition to the Boston Children's team. She moved with her fiancé after spending 8 years at the University of Utah Metabolic Clinic. Krista completed her Masters and Doctoral degrees at the University of Utah studying cognitive outcomes in PKU and strategies to improve treatment adherence. Her research interests include studying the natural history of rare metabolic disorders and improving nutritional therapies for these conditions.
Job Titles:
- President
- President of the Board
Dr. Pasquali is a Professor of Pathology and Adjunct Professor of Pediatrics at the University of Utah School of Medicine. She is also the Section Chief and a Medical Director of Biochemical Genetics at ARUP Laboratories at the University of Utah. Born and educated in Italy, Dr. Pasquali earned her degrees of Doctor in Pharmaceutical Chemistry and Technology and Pharmacy Doctor at the University of Parma, School of Pharmacy. Dr. Pasquali completed her fellowship in Clinical Biochemical Genetics at Emory University in Atlanta, GA and is board certified in Clinical Biochemical Genetics by the American Board of Medical Genetics and Genomics.
Dr. Pasquali has focused her work on the development and improvement of tests to diagnose and monitor patients with inherited metabolic disorders. She has also been interested in applying new technologies to detect pre-symptomatically metabolic disorders through newborn screening.
Job Titles:
- Associate Professor of Pediatrics at the University of Colorado School of Medicine
- Medical Advisor
Dr. Baker is an associate professor of Pediatrics at the University of Colorado School of Medicine. Dr. Baker earned his M.D. at the University of Arizona. He received residency training in pediatrics at Oregon Health and Sciences University in Portland, Oregon. He then went on to pursue fellowship training in medical genetics and clinical biochemical genetics at the University of Colorado. He joined the faculty at the University of Colorado in 2013 and is now the Clinical Medical Director of Clinical Genetics and Metabolism and Director of the Fellowship Training Program in Medical Biochemical Genetics. He is an expert in inherited metabolic diseases and is intimately involved in the treatment of patients with these diseases at Children's Hospital Colorado. His basic and clinic research covers small molecule metabolism in rare and common conditions, and the diagnosis and management of metabolic disorders including phenylketonuria, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, glycogen storage disorders, lysosomal storage disorders, and disorders of cobalamin metabolism.