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The Neurogenetics Program provides multi-disciplinary clinical care, conducts research for certain neurogenetic disorders and offers diagnostic testin¬g for an array of neurodegenerative diseases. Founded in the early 1990s, the Neurogenetics Clinic is a local, regional, national and international resource for the diagnostic evaluation of neurogenetic disorders for patients and their families.
Kathryn J. Swoboda is a neurologist and geneticist with particular expertise in motor disorders with childhood onset. Her primary research efforts include genotype/phenotype studies targeting the underlying molecular disease pathogenesis, biomarker development and treatment of inherited motor disorders. She has directed or collaborated in numerous clinical trials and studies in children and adults with spinal muscular atrophy (SMA), alternating hemiplegia of childhood (AHC), inherited disorders of neurotransmitter biosynthesis and metabolism (Segawa disease, DHPR and PTPS deficiency), and other disorders, including childhood-onset ataxias and neurodegenerative disorders. She is actively engaged in pilot initiatives to support newborn screening for neurodegenerative disorders with onset in infancy or childhood, including SMA, Pompe and other rare neurologic disorders. She has received funding from the National Institutes of Child Health and Development, the National Institutes of Neurologic Disease and Stroke, Cure SMA, Fight SMA, the Muscular Dystrophy Association, the SMA Foundation, the Pediatric Neurotransmitter Disorder Foundation, and the Alternating Hemiplegia of Childhood Foundation.
Christiano joined Dr. Swoboda group as a postdoctoral researcher in 2018. He has a Ph.D. in Physiology from University of Sao Paulo (Brazil), with a visiting period at Norwegian University of Science and Technology (Norway). He moved to Boston in 2016 to work as a postdoc in Joslin Diabetes Center, Harvard Medical School. In the last years, he led projects focused on the mechanisms underlying communication between skeletal muscle and other tissues in the context of metabolic diseases and exercise training adaptations. He now joined Dr. Swoboda group to dedicate his research efforts to motor disorders such as spinal muscular atrophy.
Jin Yun (Helen) Chen is certified genetic counselor in the Neurogenetics Unit working with Dr. Kathryn Swoboda’s team. Prior to this, she was a genetic counselor in the Division of Genomic Diagnostic and Hearing Loss Clinic at the Children’s Hospital of Philadelphia, where she gained expertise in variants analysis and report interpretation for both sequence variants and copy number alterations. She received her master’s degree in Genetic Counseling from Brandeis University and bachelor’s degree in Biochemistry from the University of Massachusetts Amherst. As a member of the Neurogenetics Team, she will provide genetic counseling services to patients and families with neurodegenerative disorders, participate in development of educational materials for families with rare neurogenetic disorders, and assist with coordination of research studies. She will also lead efforts to help assess genetic counseling needs for the faculty in the Department of Neurology and the Center for Genomic Medicine.
Sarah Simeone, physical therapist, joined the Neurogenetics Unit working with Dr. Swoboda in 2015. Previously, she worked as a senior physical therapist within the Inpatient Physical Therapy Department of Massachusetts General Hospital. She received her Doctor of Physical Therapy degree from the University of Rhode Island and her Bachelor’s degree from Muhlenberg College in Pennsylvania. She is a board certified Pediatric Clinical Specialist. She has previously taught a variety of activities including swimming, water aerobics, Pilates/Yoga, therapeutic horseback riding, and guided relaxation. Since joining the Neurogenetics Team, she has been providing clinical and research related physical therapy assessments, interventions, and recommendations to patients in the Spinal Muscular Atrophy and Neurogenetic clinics. Sarah collaborates on and contributes to research efforts and publications within the team. She is working to establish coordination among disciplines serving these complex patient populations, participating in clinical trials and research to advance knowledge of the role of exercise and positioning in neuromuscular and neurodegenerative disease.
Dr. Elise Townsend joined the Neurogenetics team in 2015 to work with Dr. Swoboda as a research collaborator and a physical therapist in the Spinal Muscular Atrophy (SMA) clinic. Elise has over 10 years of experience in clinical research and clinical management of children with neuromuscular diseases, including Spinal Muscular Atrophy and Duchenne muscular dystrophy. She is a Board Certified Specialist in Pediatric Physical Therapy with clinical and research interests in SMA motor outcomes and physical therapy management of children with neuromuscular/rare genetic diseases across the lifespan. Elise is an Associate Professor at the MGH Institute of Health Professions in the Department of Physical Therapy, School of Health and Rehabilitation Sciences. She teaches in the Doctor of Physical Therapy Program and mentors PhD students in Rehabilitation Sciences. She has worked as a physical therapist in the Pediatric Neuromuscular Clinic at Mass General, practiced in Early Intervention (EI) for children 0-3 years of age, and worked on the inpatient pediatric service at Mass General. Elise received a Bachelor’s degree from the University of Virginia, a Master of Physical Therapy from Emory University, a Doctor of Physical Therapy from the MGH Institute of Health Professions, and a Ph.D. in Child/Developmental Psychology from the Institute of Child Development at the University of Minnesota.
Savanah Cosby joined the Neurogenetics Unit in July 2016. In her former position in Neurology, Savanah provided integral support and leadership as coordinator for the Neurodevelopmental Unit. She joins the Neurogenetics Unit in the Center for Genomic Medicine as a Clinical Program Coordinator and Team Administrator under the direction of Dr. Kathryn Swoboda. She has been an integral force in the initiation of our Spinraza program for patients with SMA and treatment access efforts.
Kendall Trautman, senior clinical research coordinator, joined the Neurogenetics Unit in 2017 as a research assistant after graduating from Simmons College, with degrees in Public Health and Exercise Science. She aspires to one day return for her master’s degree in physician assistant studies. Kendall has been working with Dr. Swoboda’s team as the primary clinical research coordinator for various ongoing research studies and has been a leader in clinical trial initiation and start-up to help expand access to patients with rare neurological disorders; specifically, with Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD), Alternating Hemiplegia of Childhood, and other metabolic, mitochondrial, and neurological derived diseases and disorders. Kendall has a deep commitment to the patients and families of Dr. Swoboda and acts as a primary resource to patients and their families with the support of the clinical and research teams.
Ren Zhang is a Bioinformatics Specialist with an MPH in Biostatistics from George Washington University. He joined the Neurogenetics Unit working with Dr. Swoboda’s team at Mass General in 2015. Previously he worked with Dr. Swoboda in the Pediatric Motor Disorder Program in Utah as a data analyst. He works closely with clinical and bench research and laboratory teams within the Neurogenetics Unit managing their expanding database and assisting with statistical planning and analysis for research projects and publications as well as supporting the lab team with sample management and processing.
Jennifer Siranosian joined the Swoboda Lab as a research technician after completing a BA in biology and archaeology at Wesleyan University in Middletown, CT. With plans to pursue a Masters in Genetic Counseling, she is excited to gain experience in the technical, analytical, and patient-care aspects of clinical research. While at Wesleyan, Jennifer worked in a genetics lab as a bioinformatics research assistant, using computational methods to model cellular processes in Bacillus, and wrote an Honors thesis on medieval paleopathology. In addition to excavating at two French monasteries, Jennifer has studied archaeology at the Human Origins Field School in Kenya and the Kampsville Field School in Illinois.
Alec Johnstone is a Clinical Research Coordinator in the Swoboda Lab. Alec obtained a BS in Biology from Florida State University. While attending FSU, he grew familiar with the use of CRISPR Cas9 gene editing techniques under the supervision of Dr. Chadwick. As a CRC he performs a wide array of tasks including data management, sample processing, and clinical work. His interests include bowhunting, cooking, fishing, and gardening.
Pann Htet Nwe joined the Mass General Neurogenetics Unit in August 2017 as a Clinical Research Coordinator. She graduated from Simmons College with a degree in Public Health and previously worked with Dr. David Ginty at the Harvard Medical School to study Neuropathic Pain. Her goal is to attain a Master’s degree in Public Health and contribute to the design and conduct of Public Health Research. Pann will be working with Dr. Kathryn Swoboda’s clinical and laboratory research team to study newborns, children, and adults with Spinal Muscular Atrophy and other Neurological Disorders.
Maria joined Mass General's Neurogenetics Unit in September 2018 as a Clinical Research Coordinator. She earned her M.D. from Andres Bello University, Chile in Dec 2017. Right after getting her medical license, Maria worked as a Primary Care Physician in a rural community in Chile to improve their access to healthcare. Previously, she had done summer school at Harvard T.H. Chan School of Public Health to strengthen her knowledge in Healthcare Economics and Healthcare Quality. Her future goal is to do Family Medicine Residency and work with communities on preventative medicine and healthcare initiatives to build strong relationships within the communities, improving healthcare access and people's wellbeing. Maria will be working with Dr. Swoboda’s team as a clinical research coordinator for various ongoing research and clinical trials especially with international patients.
Emma joined the Neurogenetics Unit in January of 2019 as a Clinical Research Coordinator for various ongoing research and clinical trials studying and providing care to individuals with SMA. Emma graduated from Boston College with a Bachelor of Science in Biology and minor in Philosophy in 2018. Previous to joining Dr. Swoboda’s team, she worked for Boston Healthcare for the Homeless Program’s HIV Prevention and Screening Team, providing HIV testing in various shelters and detox centers throughout Boston. Emma hopes to be providing primary care and contributing to public health efforts in community health centers in the future.
Our areas of focus include:
Our program serves as the institutional primary investigator on multicenter national clinical research studies in Spinal Muscular Atrophy, Fabry, Gaucher and Pompe diseases. In addition, we can refer patients to existing and future clinical trials and research studies both within and outside of Mass General.
Prospective evaluation of infants with spinal muscular atrophy (SPOT SMA)
SPOT SMA is a prospective NIH-supported clinical study targeting pre-symptomatic or recently diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3. The main objective of the study is to implement and assess the impact of multidisciplinary care using a standardized protocol on health outcomes in SMA infants prospectively identified in the prenatal or newborn period in the setting of a family history of SMA. There is no investigational drug; the intervention in this study is in the form of coordinated, multidisciplinary care including dietary intervention, respiratory monitoring, physical therapy, and genetic counseling.
The SPOT SMA study is for:
Study participation lasts for up to two years. During this time, participants will receive coordinated, multidisciplinary care including visits with the study doctor at no cost.
Travel coordination and reimbursement may be available.
To learn more, please visit ClinicalTrials.gov or contact study coordinators at Massachusetts General Hospital at 617-999-9219.
Biorepository for Molecular Studies in Disorders of Energy Metabolism
The Biorepository for Disorders of energy metabolism is a long-term research study designed to collect and store biological samples (e.g. blood, urine, skin tissues, etc.) for future research studies. Collection of these samples will serve as resource for clinicians and scientist who conduct genetic research to learn how genes and DNA contribute to various genetic conditions, particularly in the areas of disorder of energy metabolism. We hope that these studies will further help researchers and clinicians understanding the disease mechanism and identifying biomarkers in order to develop ways to prevent, detect, and treat patients with these conditions.
This is a clinical study targeting individuals of any age diagnosed with disorders of energy metabolism. The main objective of the study is to create a robust resource to support researchers who will contribute to the future of personalized medicine within the field of Neurogenetics.
To learn more, please contact study coordinators at Massachusetts General Hospital at 617-724-2523.
We welcome individuals at different levels of clinical and academic training (Undergraduate, Graduate students, Medical students, Residents, and Postdoctoral Fellows) with exposure in the fields of neurology and genetics. Each application is reviewed individually. Please send CV to Dr. Kathryn Swoboda at firstname.lastname@example.org..
Neurogenetics Research Program 185 Cambridge Street 5-240Simches Research BuildingBoston MA, 02114Phone: 617-724-2523
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