Research Working Group
Dr. Janet Crane
Janet Crane, MD is an Associate Professor at Johns Hopkins University (JHU) with a joint appointment in Pediatric Endocrinology and the Orthopedic Surgery Center for Musculoskeletal Research. She serves as the director of the Pediatric Bone Health Clinic program at JHU and as a Clinical Associate at the Kennedy Krieger Institute Center for Genetic Muscle Disorders and Bone Disorders Program.
Dr. Crane’s research mission is to understand hormonal signaling pathways that regulate bone vasculature and sensory innervation in relationship to skeletal disorders and how these signaling pathways can be manipulated by pharmaceutical drug targets. She adapts this knowledge to develop treatment recommendations for children with bone disorders, specifically skeletal fragility, osteoporosis, and metabolic bone disease. Dr.Crane received the Young Physician-Scientist Award from the American Society for Clinical Investigation in 2016 and receives research grant funding from the U.S. National Institutes of Health and Department of Defense. Dr. Crane is a member of the Osteoporosis Prevention Working Group and the Growth and Puberty Working Group within OPTIMZE DMD.
Fun fact: Dr. Crane enjoys traveling and has set foot in 44 US states and 4 continents. Contact information : jcrane2@jhmi.edu
Dr. David Webber
Dr. David Weber is an attending Physician in Pediatric Endocrinology and the Associate Professor of Pediatrics, The Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania. Dr. Weber is the Medical Director of the Center for Bone Health and Research Director of the Nutrition and Growth Lab at CHOP. He is passionate about improving the endocrine and bone health care of people with DMD and has participated in multi-disciplinary neuromuscular clinics for over a decade, first at the University of Rochester and now at CHOP.
Dr. Weber’s research group is actively studying the impact of DMD and other chronic diseases on bone health. He also has an interest in rare disorders of bone mineral metabolism and is currently working on studies in conditions includingENPP1 and CYP24A1 deficiency.
Dr. Weber is currently co-chair of the Bone and Mineral Special Interest Group of the Pediatric Endocrine Society and a member of the Professional Practice Committee of the American Society of Bone and Mineral Research (ASBMR). Dr. Weber is a member of the Steering Committee, Co-Chair of the Adrenal Working Group, and a member of the Osteoporosis Working Group.
Dr. Jaclyn Tamaroff
Jaclyn Tamaroff, MD, MSCI is a Assistant Professor of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Vanderbilt University Medical Center.
Dr. Tamaroff’s research program focuses on the interaction between glucose and insulin metabolism and cardiac disease in neuromuscular disorders, specifically Duchenne muscular dystrophy (DMD) and Friedreich’s ataxia (FRDA). She is currently investigating the utility of wearable technology in DMD to assess glycemia, activity, heart rate, and sleep and the relationship between these parameters. Additional ongoing studies are evaluating insulin sensitivity in DMD and the potential relationship to cardiomyopathy. Finally, she will be leading future studies that explore the use of weight-management medications in individuals with DMD.
Dr. Tamaroff was a member of the FRDA Consensus Clinical Management Guidelines Writing Committee (2020-2022) that published updated guidelines for FRDA. She was also a member of the National Institute of Neurologic Disorders and Stroke (NINDS) Common Data Elements Mitochondrial disease, Endocrinology subgroup (2022-2023). Dr. Tamaroff is a member of the OPTIMIZE DMD weight-management working group.
Dr. Laura McAdam
Laura McAdam MSc, MD, FRCPC is a Physician Director of Ambulatory Services at Holland Bloorview Kids Rehabilitation Hospital and an Assistant Professor, Department of Pediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Canada. Her clinical focus is rare genetic conditions specifically children who have neuromuscular conditions. She leads the multidisciplinary Neuromuscular Clinic and Rett syndrome clinic and is a Clinician Investigator at the Bloorview Research Institute.
Dr. McAdam’s research focuses on three main areas: enhancing care for children with neuromuscular conditions, advancing rehabilitation for children with rare diseases, and understanding the broader psychosocial impact of living with a rare condition. Through her research she seeks to bridge knowledge gaps, improve patient care, and address the multi-faceted challenges faced by individuals with rare diseases.
Dr. McAdam participates in the Canadian Neuromuscular Disease Registry, Canadian Pediatric Neuromuscular Group, the Neuromuscular Disease Network for Canada and is a member of the Optimizing Management of Endocrine Complications. In Optimize DMD, Dr. McAdam is an active member of 2 working groups: growth and puberty and weight management working groups. She provides the neuromuscular perspective by monitoring side effects, and collaborating with teams to personalize child care.
Dr. Leanne M. Ward
Dr. Leanne Ward is a Professor of Pediatrics in the Faculty of Medicine at the University of Ottawa where she holds a Tier 1 Research Chair in Pediatric Genetic and Metabolic Bone Disorders. Dr. Ward is the Scientific Director of The Ottawa Pediatric Bone Health Research Group at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute, Medical Director of the Pediatric Endocrinology-Osteology Clinic at the Children’s Hospital of Eastern Ontario, and a pediatric endocrinologist-osteologist in the CHEO Division of Endocrinology. In 2014, she founded The Canadian Consortium for Children’s Bone Health, a national, multi-disciplinary network of clinicians and scientists that fosters health professional education and research in childhood-onset bone disorders and The Canadian Alliance for Rare Disorders of the Skeleton (a patient advocacy initiative). Dr. Ward’s research program is dedicated to the diagnosis and treatment of childhood-onset bone disorders including skeletal dysplasias, bone fragility and mineralization disorders, and osteoporosis due to chronic illnesses. The Ward lab has a particular focus on therapeutic trials in childhood-onset bone disorders, emphasizing skeletal health outcomes quantified through central skeletal imaging, and the study of novel drugs to mitigate the functional consequences of rare bone diseases.
Dr. Melissa Fiscaletti
Dr. Melissa Fiscaletti is an Assistant Professor in the Department of Pediatrics at the School of Rehabilitation at Université de Montréal. She is also a dedicated clinical researcher. As the Medical Co-Director of the Metabolic Bone Clinic at the Sainte Justine University Hospital, Dr. Fiscaletti plays a central role in providing comprehensive care for children with metabolic bone disorders. She is a also a key contributor to the neuromuscular clinic at the Marie-Enfant Rehabilitation Center.
Dr. Fiscaletti’s research at the Sainte Justine Azrieli Research Center in Montreal is centered on secondary (acquired) bone fragility in children with complex medical conditions. She is an investigator in several pharmaceutical trials focused on osteoporosis, osteogenesis imperfecta, achondroplasia, generalized calcification of infancy and contributed to the PETALe cohort study. Currently, she leads the POP-CMC study and biobank, investigating the potential of polygenic risk scores in predicting disuse bone fragility in children with complex medical conditions.
Dr. Fiscaletti is a steering committee member of the Canadian Consortium of Children’s Bone Health (CCCBH). She is also a member of OsNet, a Canadian network advancing bone research and RareQc, a network focussed on promoting research collaboration for rare diseases in Quebec. As a contributor to OPTMIZE DMD Consortium, Dr. Fiscaletti works to enhance research, education and advocacy surrounding bone clinical outcomes in Duchenne muscular dystrophy (DMD).
Dr. Nora Renthal
Dr. Nora Renthal, MD, PhD is an Assistant Professor of Pediatrics at Harvard Medical School and an attending physician in the Division of Endocrinology at Boston Children’s Hospital. She serves as the Medical Director of the Bone Health Program and Director of the DXA Program for Pediatric Bone Density at Boston Children’s Hospital.
Clinically, she is an attending physician in endocrinology and directs key programs related to bone health and pediatric bone density. She leads endocrine care in the PPMD Certified Duchenne Care Center at Boston Children’s Hospital. Dr. Renthal’s research has two primary branches: basic science exploring the genetics of growth plate chondrocyte maturation and health equity research focused on understanding and improving sexual health care delivery for young adults with musculoskeletal disabilities.
Dr. Renthal chairs the Boston Children’s Hospital Collaborative for Disability Health Equity and Inclusion (CDHEI) and the Disability Health Equity Research Collaborative. She is the founder of the Endocrinology Network for Diversity, Openness, Awareness, Respect, and Community (EndoARC). As co-chair of the OPTIMIZE DMD Sexuality and Fertility Working Group, Dr. Renthal focuses on developing and refining care protocols related to sexual health and fertility for individuals with Duchenne Muscular Dystrophy.
Dr. Pamela Smith
Bio coming soon!
Dr. Paula R. Clemns
Dr. Clemens is Professor and Vice Chair of Neurology at the University of Pittsburgh and Chief of the Neurology Service at Pittsburgh VA Healthcare SystemDr. Clemens is an adult neurologist who has scientific expertise in translational and clinical research developing therapies for skeletal muscle disorders caused by genetic mutations such as Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and late-onset Pompe disease.
Dr. Clemens contributed to the research sponsored by NS Pharma that led to regulatory approval of a morpholino-based exon 53 skipping therapy for the treatment of patients with DMD whose mutation is amenable to skipping exon 53 of the dystrophin gene.
Dr. Clemens led the Cooperative International Neuromuscular Research Group (CINRG) as Medical Director from 2010-2023. She has chaired several multi-site studies conducted by the CINRG network, including an international, longitudinal natural history study of BMD and a series of treatment studies that led to regulatory approval of a novel steroid for the treatment of DMD. Dr. Clemens led research at one of 5 sites worldwide resulting in regulatory approval of the first recombinant enzyme treatment for late-onset Pompe disease. She contributed to the research leading to the next generation of recombinant enzyme therapy for this disorder. She serves on the North American Board for the Pompe Registry.
Dr. Sze Choong (Jarod) Wong
Dr Jarod Wong is Senior Clinical Lecturer/Consultant Paediatric Endocrinologist based at Human Nutrition, College of Medicine, Veterinary and Life Sciences at the University of Glasgow with clinical commitments at the Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, United Kingdom. Dr. Wong leads the Bone, Endocrine, Nutrition Research Group in Glasgow (BEN-G).
Dr. Wong is the Lead of the Bone and Endocrine Working Group and Co-Lead of the Nutrition Working Group for DMD Care UK, a national collaboration between clinicians and patient group (Duchenne UK) aimed at developing and implementing standards of care across the UK. Dr. Wong is a Steering Committee Member of DMD Care UK. Dr. Wong is the Chair of the Clinical Committee for the British Society for Paediatric Endocrinology and Diabetes and sits on the Clinical Committee of the European Society of Paediatric Endocrinology.
For nearly 20 years, Dr. Wong’s research has primarily focused on the impact of chronic disorders, suboptimal nutrition, and glucocorticoid use on growth, puberty, and musculoskeletal outcomes.
Dr. Wong is a member of the OPTIMIZE-DMD steering committee; co-chair of the osteoporosis working group and member of the adrenal insufficiency and weight management working group