Leadership
Clinical Research Team
The RSZ TNC Clinical Research Operations Director oversees a cadre of affiliated interdisciplinary research teams dedicated to specific conditions or disease pathways. Each team includes a Research Manager and Research Coordinators and is supported by experienced Regulatory Specialists, a Research Nurse and a Genetic Counselor.
Stephanie Jo Brewster, MS, CGC
Director, Clinical Research Operations
Lindsay Swanson, MS, CGC
Assistant Director, Clinical Research Operations, Senior Genetic Counseling Program Manager
Suzanne Lemoine, MA
Clinical Research Regulatory Manager
Christine Barthelemy, BS, CCRC
Regulatory Specialist II
Katherine Pawlowski, BA
Director of Developmental Medicine Clinical Research Laboratories
Seven coordinators, including clinical research assistants and specialists, support studies in Developmental Medicine as well as Neurology and Psychiatry. Studies focus on neurodevelopmental conditions including Down syndrome, Fragile X Syndrome, 16p11.2 deletion syndrome, Autism Spectrum Disorder, anxiety, and attention deficit/hyperactivity disorder. Studies include multiple Phase II and III trials of novel medications, safety and pharmacokinetic studies of commonly prescribed medications, randomized behavioral intervention trials, assisting with the search for electroencephalographic and other biomarkers, qualitative research, clinical quality improvement projects, and retrospective analyses of clinical data sets.
Rajna Filip-Dhima, MS
Developmental Synaptopathies Clinical Research Manager
Our team researches rare genetic neurodevelopmental disorders, including Tuberous Sclerosis Complex, PTEN Hamartoma Tumor Syndrome, Phelan McDermid Syndrome, Genetic Landscape of Cerebral Palsy, Cerebrovascular Disorders, Sturge Weber Syndrome, Chopra-Amiel-Gordon Syndrome, and Dup15q Syndrome.
Through our research, we examine genetic, neurological and developmental differences between individuals of all ages affected by these disorders. We follow patients for several years through natural history studies and we conduct clinical trials of new therapeutics for treatment of these conditions. In addition to our observational and interventional studies, our team enrolls patients in genetic sequencing studies, biosample repositories, and gene registry and discovery projects
Elicia Estrella, MS, CGC
Neuromuscular Clinical Research Manager
The Neuromuscular Program at BCH is focused on the molecular genetics, diagnostics and therapeutics of pediatric neuromuscular diseases. We are a team of 3 scientist physicians, a NP, a genetic counselor and 7 clinical research assistants aimed at testing candidate drugs, gene and molecular therapies to treat and cure neuromuscular diseases in children and their families. We work closely with many family support groups like CureSMA, Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). We have participated in the trials for Spinraza, Zolgensma and Evrisdy, which has brought lifesaving treatment options to children with Spinal Muscular Atrophy (SMA) and allowed this disease to be added to the newborn screen in Mass.
Zoë Frazier, MS, CGC
Kleefstra Syndrome Project Manager
The Kleefstra Syndrome Program is dedicated to providing translational research to individuals diagnosed with Kleefstra syndrome (KS). We are a team of a scientist physician, a genetic counselor, a genetic counseling assistant, and a research assistant. Our program works closely with the Kleefstra syndrome type 1 patient advocacy group, IDefine, to support the KS community. We also collaborate with international clinicians and researchers who are similarly motivated to better understand and eventually develop a therapy for KS. Currently, our research is focused on observational studies for this condition, with particular interest in better understanding the natural history of KS, genotype-phenotype correlations, sleep on a behavioral and molecular level, and post-pubertal regression.
Eorna Maguire, BA
Rett & CDKL5 Clinical Research Manager
Our Rett & CDKL5 Research Program is dedicated to conducting clinical research in MECP2-related disorders like Rett syndrome and CDKL5 deficiency disorder (CDD). Our team members work closely several foundations dedicated to supporting families with MECP2-related disorders and CDKL5 deficiency disorder to accelerate research. We conducted the first investigational trial in Rett syndrome with our Phase 1 and 2 IGF-1 studies and now conduct investigational clinical trials and observational studies for these disorders.