Rare Disease

The Scientific Center for Rare Disease at Connecticut Children’s Research Institute is a hub of expertise in the fields of pediatric endocrinology, rheumatology, gene therapy, metabolic bone disease, neurology, and many other disciplines in the field of rare disease. With a focus on analyzing the etiology and pathology of rare diseases to better identify treatment options and interventions for patients and families, researchers at the Center work at the forefront of innovative scientific breakthroughs to improve care and enhance treatment options for patients with rare illnesses. From conducting gene therapy studies for glycogen storage diseases to assessing the bone biology of patients with phosphate wasting disorders, the Center is expanding our understanding of rare disease with novel research – including sending mice to space!

Researchers

Neetu Krishnan, MD is an Assistant Professor of Pediatrics at the University of Connecticut School of Medicine and a pediatric endocrinologist at Connecticut Children’s where she serves as the Assistant Director of the Albright Center, the first and only center in the world dedicated to Albright hereditary osteodystrophy (AHO). During her fellowship, Dr. Krishnan conducted research in pseudohypoparathyroidism (PHP) under the mentorship of Dr. Emily Germain-Lee and received additional training in reading dual energy X-ray absorptiometry (DXA) scans. One of her research projects highlighted that patients with PHP1A are at increased risk of developing Chiari 1 malformation. Dr. Krishnan continues to work on research related to patients with PHP and other rare bone disorders, such as hypophosphatasia (HPP).

Jessica Fennell, MD is an Assistant Professor of Pediatrics at the University of Connecticut School of Medicine and a rheumatologist at Connecticut Children’s where she serves as Co-Director of the Combined Rheumatology-Nephrology Lupus Clinic. Dr. Fennell has a strong reputation for excellence in medical education and was nominated for the McNeill Teaching Award by Connecticut Children’s residents in 2024. She has published articles on various topics in the field of rheumatology including chilblains-like lesions, inflammatory arthritis, and juvenile idiopathic arthritis. Dr. Fennell’s research currently focuses on transitions in care for pediatric patients. Dr. Fennell serves on the Lupus Foundation of America Committee and helps organize the annual Walk to End Lupus Now event in Hartford County.

David Whitehead, MD is an Assistant Professor of Pediatrics at the University of Connecticut School of Medicine and a pediatric geneticist at Connecticut Children’s. Dr. Whitehead has expertise in treating children with rare genetic disorders with specialization in the field of rare cancer predisposition syndromes. He currently serves as Co-investigator for the Copper Histidine Treatment for Menkes Disease trial, a study which analyzes treatment options for individuals with a rare x-linked genetic disorder of copper metabolism that leads to progressive neurodegeneration for infants.

Youngmok Lee, PhD is an Assistant Professor of Pediatrics at UConn Health specializing in glycogen storage diseases (GSDs). Dr. Lee has played a key role in developing gene therapies for GSD-Ia and GSD-Ib, with GSD-Ia gene therapy now in clinical trials. His research focuses on advancing therapeutic strategies, including gene therapy, to bridge the gap between laboratory discoveries and clinical applications for improved patient outcomes. He is a member of the Scientific Advisory Board of the Association of Glycogen Storage Disease and Associate Member of the American Society of Cell and Gene Therapy.

Rebecca Riba-Wolman, MD is an Associate Professor at the University of Connecticut School of Medicine and a pediatric endocrinologist at Connecticut Children’s where she serves as Director of the Glycogen Storage Disease and Disorders of Hypoglycemia Program and Medical Director of Endocrine-Oncology. With expertise in neuroendocrinology, endocrine tumors, endocrine late effects of childhood cancer survivors, and disorders of hypoglycemia, including glycogen storage diseases, Dr. Riba-Wolman’s research focuses on diagnosis and management of disorders of hypoglycemia. She is the site primary investigator for two novel genetic therapy trials for treatment of glycogen storage disease type 1a, studies currently being conducted in the Clinical Trials Unit of the Department of Pediatrics at UConn Health. These cutting-edge trials include gene therapy and nucleotide editing, and are being conducted in collaboration with partner sites around the world. She is the Endocrinology representative of the CT Newborn Screen Genetics Advisory Committee and a member of the Consortium for New England Childhood Cancer Survivors.

Nancy Dunbar, MD, MPH is an Associate Professor of Pediatrics at the University of Connecticut School of Medicine and a pediatric endocrinologist at Connecticut Children’s and Shriners Hospital for Children, where she serves as Director of the Metabolic Bone Clinic. She has 20 years of experience treating patients with metabolic bone disease and pediatric osteoporosis and leads the Clinical Densitometry Program at Connecticut Children’s. Dr. Dunbar is involved in clinical research in hypophosphatasia (HPP) and osteogenesis imperfecta (OI), and created a bilingual support group for patients who are being treated at the Connecticut Children’s OI Center. She is a member of American Society for Bone and Mineral Research, the Pediatric Endocrine Society, and the Endocrine Society. .

Gyula Acsadi, MD, PhD is a Professor of Pediatrics at the University of Connecticut School of Medicine and a pediatric neurologist at Connecticut Children’s where he serves as Division Head of Pediatric Neurology. With expertise in neuromuscular disorders and gene therapy, Dr. Acsadi’s clinical and research interests focus on spinal muscular atrophy (SMA), muscular dystrophies, and Charcot-Marie-Tooth disease. He leads Connecticut Children’s Neuromuscular Program, which includes MDA, SMA, and CMT Care Centers, and is actively involved in clinical trials for Duchenne muscular dystrophy and Charcot-Marie-Tooth disease, with a strong emphasis on advancing genetic-based therapies. Dr. Acsadi serves on the CureSMA Executive Leadership Committee as Chair of the Care Center Committee and is an active member of professional organizations such as the Child Neurology Society, the Peripheral Neuropathy Association, the World Muscle Society, and the International Child Neurology Association. As a Fellow of the American Academy of Neurology, he also contributes to the field through editorial board service for Pediatric Neurology and participation in the Scientific Review Committee of the Child Neurology Society.

Karen Loechner, MD, PhD is an Associate Professor at the University of Connecticut School of Medicine and a pediatric endocrinologist at Connecticut Children’s. With expertise in program development and bone health, Dr. Loechner is a leader in Connecticut Children’s Turner Syndrome Multidisciplinary Clinic. She has a long-standing interest in congenital adrenal hyperplasia (CAH) and rare bone diseases and is actively involved in clinical trials for both CAH and osteogenesis imperfecta (OI). As the site principal investigator for a study on CAH, she is investigating a novel hormone antagonist and its impact on steroid requirements with a focus on growth and bone health. In the field of OI, she serves as an off-site PI for the investigator-initiated Marcus Foundation-funded Phase 1/2 clinical trial on Mesenchymal Cell Therapy, evaluating the effects of MSC infusions in children with severe Type III OI. Additionally, she is a site co-PI at Connecticut Children’s for the Ultragenyx trial assessing the dose, efficacy, and safety of Setrusumab in participants with OI. She serves on the Medical Advisory Board of the CARES Foundation (CAH Research and Education).

Laleh Ardeshirpour, MD is a Clinical Assistant Professor at the University of Connecticut School of Medicine and a pediatric endocrinologist at Connecticut Children’s. With more than 20 years experience in the field of pediatric endocrinology, Dr. Ardeshirpour has expertise in bone and mineral disorders including the effects of osteoprotegerin (OPG) on calcium metabolism during lactation and the physiology of hypercalcaemic and hypocalcaemic syndromes in children. Dr. Ardeshirpour’s research focuses on calcium and bone metabolism during lactation and she has published extensively in peer-reviewed journals on the topic. She received the Young Investigator Award from the American Society for Bone and Mineral Research (ASBMR) and has been named a Castle Connolly Top Doctor in Connecticut for pediatric endocrinology.

Nordie Bilbao, MD is an Assistant Professor of Pediatrics at the University of Connecticut School of Medicine and a pediatric endocrinologist at Connecticut Children’s. With expertise in caring for thyroid cancer patients, Dr. Bilbao serves as Medical Director of the Pediatric Thyroid Center at Connecticut Children's and leads a multidisciplinary group that provides up-to-date care for children with thyroid cancer. Dr. Bilbao mentors pediatric endocrinology fellows as they conduct thyroid cancer research. The goal of her clinical and research efforts is to establish a medical home for pediatric thyroid cancer patients and provide access to the latest medical treatment, technologies, and approaches that improve patient care.

Malaya Mount, MS, RD is a metabolic dietitian specializing in disorders of hypoglycemia, with a particular focus on glycogen storage disease (GSD). She is the senior research dietitian for GSD clinical trials at UConn Health and sees patients clinically at Connecticut Children’s. She participated in the Phase I/II Ultragenyx clinical trial which studied gene therapy for GSD-Ia, where she assists with monitoring participants’ diets based on data from their glucose monitor.

Joanna Gell, MD is an Assistant Professor of Pediatrics at University of Connecticut School of Medicine, an attending physician of pediatric hematology/oncology at Connecticut Children’s, and a Research Scientist at The Jackson Laboratory for Genomic Medicine. With expertise in germ cell tumors (GCTs), she has applied stem cell and germ cell biology to study the origins of GCTs. Dr. Gell’s research focuses on developing novel in-vitro models to study GCT biology and identify new biomarkers and therapeutics for GCTs. Clinically, she cares for patients with GCTs and several other rare cancers and blood disorders. She is a member of the State’s Rare Disease Advisory Council.

Markus Bookland, MD is an Associate Professor of Pediatrics at the University of Connecticut School of Medicine. As an experienced pediatric neurosurgeon, Dr. Bookland’s practice encompasses advanced minimally invasive surgical techniques and AI-augmented screening tools. He is actively involved in developing diagnostic and theranostic tools aimed at enhancing the lives of children with brain tumors and craniosynostosis. His research focuses on novel micro-RNA biomarkers for tracking pediatric gliomas and the development of AI tools for detecting and monitoring neonatal craniosynostosis. In his role as a member of the Connecticut Children’s Center for Innovation and Associate Director of Research for Surgery, supports his fellow physician scientists in transforming their pediatric research concepts into publications and therapies. He is the Synostosis Research Group Site Director and a member of the SANS Congress of Neurological Surgeons.

Julieta Bonvin Sallago, MD is an Assistant Professor of Pediatrics at the University of Connecticut Medical School and serves as the Lead Clinical Research Associate at Connecticut Children’s. With expertise in pediatric neurology, neurodevelopment, and inherited metabolic disease, she actively contributes to rare disease studies and collaborates with various global associations that are dedicated to rare conditions. She is a member of the Society of Clinical Research Associates and a Certified Clinical Research Professional.

Leadership

Dr. Emily Germain-Lee (She/Her)

Professor of Pediatrics at the University of Connecticut School of Medicine and a pediatric endocrinologist at Connecticut Children’s where she serves as Director of the Scientific Center for Rare Disease at CCRI. Dr. Germain-Lee also directs the Center for Rare Bone Disorders, which she established to combine clinical care with laboratory investigations, as well as the Albright Center and Osteogenesis Imperfecta (OI) Center. Her laboratory is within the Center for Regenerative Medicine & Skeletal Development at UConn where she holds a secondary appointment as Professor of Reconstructive Sciences in the School of Dental Medicine. Dr. Germain-Lee’s research focuses on the molecular, cellular, and physiological mechanisms underlying the pathogenesis of diseases affecting the endocrine and musculoskeletal systems, with a particular focus on rare bone disorders. Her clinical and basic science research program has provided insights into rare bone disorders and shed light on fundamental signaling pathways and processes with implications for more common diseases. A major focus of Dr. Germain-Lee’s work is Albright hereditary osteodystrophy (AHO), a condition including two subtypes termed pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP). Over the past three decades, Dr. Germain-Lee developed an extensive bedside-to-bench research program through her establishment of the Albright Center, where she has evaluated one of the largest populations of patients with AHO worldwide and where she conducts basic research utilizing a mouse model that she developed. Through her studies of the clinical manifestations of AHO, including basic research in disease mechanisms and her investigator-initiated FDA-sponsored clinical trials, Dr. Germain-Lee has been a leader in elucidating the pathogenesis of AHO and changing standard of care for patients. Her research also includes OI (also known as brittle bone disease), where she established the OI Center to combine clinical care and clinical research with investigations utilizing mouse models. Through recent investigations using mouse models to identify signaling pathways of OI that lead to increases in bone and muscle mass, Dr. Germain-Lee and her colleagues sent mice to the International Space Station and revealed that the pathway they identified led to improvements in both bone and muscle mass in the setting of microgravity. These findings may help uncover treatment options for conditions which result in bone and muscle loss, both for patients on Earth and astronauts affected by microgravity in space.

Dr. Carolyn Macica (She/Her)

Maintains joint Affiliate Professor appointments at the University of Connecticut School of Medicine, the Frank H. Netter MD School of Medicine at Quinnipiac University, and the Yale University school of Medicine with expertise in rare metabolic bone disease. She serves as the Director of Research Operations and Development at the Connecticut Children’s Research Institute (CCRI) and serves as Co-Director for the Scientific Center for Rare Disease at CCRI. Dr. Macica is a funded research scientist who conducts basic, clinical, and translational research in bone biology and X-linked hypophosphatemia (XLH). She also serves as a scientific advisor, educator, and advocate for patients and families who are impacted by rare diseases. Dr. Macica chairs and executes an annual CME-accredited Rare Disease Day Symposium at Quinnipiac University and maintains a strong commitment to STEM mentorship for underrepresented students.