People

Stephanie Jo Brewster, MS, CGC

Director, Clinical Research Operations, Director, Genetic Counseling

Stephanie Brewster is a board-certified and licensed genetic counselor with over 20 years of clinical research experience. In her current and previous positions, Ms. Brewster has implemented and overseen numerous pediatric studies and clinical trials, providing guidance around protocol and consent form composition, Institutional Review Board (IRB) facilitation, infrastructure creation and study staff supervision. She is a current member of the Institutional Review Board and Director, Genetic Counseling at Boston Children’s. Ms. Brewster oversees our Clinical Research Operations Core.

Lindsay Swanson, MS, CGC

Assistant Director, Clinical Research Operations, Senior Genetic Counseling Program Manager

Ms. Swanson is a board-certified and licensed genetic counselor with 12 years of experience in clinical research at Boston Children’s Hospital. She previously served as the program manager of the Rett Syndrome Program for over 7 years, leading the implementation of multiple clinical trials, and helping to build new research programs for CDKL5 and FOXG1 disorders. She was named the Assistant Director of Clinical Research Operations Core in 2023. She assists the Core director in operations planning and implementation including management, and specifically provides training and mentorship to new managers and new clinical trialists.

Christine Barthelemy, BS, CCRC

Regulatory Specialist II

Christine Barthelemy is a Regulatory Specialist for the Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC). She received her BS in Biopsychology from Tufts University, certification in clinical research coordination (CCRC) from the Association of Clinical Research Professionals, and graduate certificate in Regulatory Affairs from the Massachusetts College of Pharmacy and Health Sciences. In her position, she works on study start up, site initiation, regulatory maintenance, and compliance consultation for the Neurology and Neurosurgery Departments. She is interested in clinical research ethics and patient/family advocacy. She manages the RSZ TNC EDIBAR Initiatives, focusing on community partnership and outreach. She is a member of the EDIB Council in the Neurosurgery Department and chair of its Equitable Care in an Inclusive Environment subcommittee. She is also a member of the Neuroscience Family Advisory Council.

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.

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.

Zoë Frazier, MS, CGC

Developmental Neurogenetics Research Project Manager

Our team supports translational research studies for several neurodevelopmental conditions, including Phelan McDermid syndrome, Kleefstra syndrome, Cerebral Palsy, and Cerebrovascular Disorders. We are a team of a physician scientist, a genetic counselor, and a clinical research assistant. We work closely with patient advocacy groups, families, and international clinicians/researchers, all of whom are similarly motivated to better understand these neurodevelopmental conditions. Currently, our research includes several genetic sequencing initiatives (exome sequencing, genome sequencing, long-read sequencing), observational studies, and biosample repositories. We aim to better understand these conditions on a molecular and behavioral level, to contribute to the future development of targeted therapies.

Suzanne Lemoine, MA

Clinical Research Regulatory Manager

Suzanne M. Lemoine received her Bachelor and Master of Arts degrees in Sociology with an emphasis on research from the University of New Brunswick in Canada. Ms. Lemoine has over 11 years of experience in regulatory and clinical research.  She has successfully managed the regulatory requirements from start-up to close out for numerous sponsor and principal investigator studies, created internal regulatory SOPs, and coordinated internal and sponsor monitoring of trials.  She has a clear understanding of regulatory processes, procedures and policies, including GCP and local regulatory requirements.

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.

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.