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Research at Mass General
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.
Dr. Nery has a Ph.D. in Human Genetics and Molecular Biology, trained in human and molecular genetics at the Brazilian Synchrotron Light Laboratory and UNICAMP, Brazil. Since February 2016, Dr. Nery has joined the Center for Genomic Medicine and the Neurogenetics Unit led by Dr. Kathryn Swoboda. For her PhD work she earned the award for the “Best PhD Thesis in Biological Sciences in Brazil”. In 2005, she joined Dr. Xandra Breakefield laboratory, where she focused in the area of neurology with a particular focus on motor disorders including dystonia. Following postdoctoral work, her work focused on understanding the function of the defective protein, torsinA, in DYT1 dystonia patients. After her work on dystonia, Dr. Nery decided to dedicate some time to clinical research where she worked on non-invasive brain stimulation with Dr. Felipe Fregni at Spaulding Hospital and on study of natural compounds effect on cramps in a company named Flex Pharma. Currently, she is dedicating her research efforts to rare diseases such as spinal muscular atrophy (SMA) and Alternating hemiplegia of childhood (AHC). Her current projects include: Biomarker Development for Infants and Children with Spinal Muscular Atrophy (SMA), Neural and non neural abnormalities in patients with SMA type 1.
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.
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 with a focus in pediatric physical therapy including intensive care units and Cystic Fibrosis. 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 member of the American Physical Therapy Association including the section on Pediatrics. 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 pediatric 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 Unit in 2015 to work with Dr. Swoboda as a research collaborator and a physical therapist in the Spinal Muscular Atrophy (SMA) clinic. 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 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 MGH, practiced in Early Intervention for children 0-3 years of age, and worked on the inpatient pediatric service at MGH. 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 University of Minnesota.
Jin Yun (Helen) Chen, a certified genetic counselor, recently joined 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.
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 MGH 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.
Kendall Trautman, clinical research assistant, joined the Neurogenetics Unit in 2017. She is an upcoming graduate of Simmons College, with a degree in Public Health and Exercise Science with a Biology concentration. She has aspirations to one day return for her Master’s degree in Physician Assistant Studies. Kendall is a Massachusetts native, who has always wanted to work and grow her career in Boston. Kendall will be working with Dr. Swoboda’s team as a clinical research assistant/coordinator for various ongoing research and clinical trials; specifically on SMA and other neurological and mitochondrial derived diseases and disorders. She will work to serve the research team, and the involved patients and their families.
Maryam Fatouraei, Research Technician II, joined Neurogenetics Lab working with Dr. Kathryn Swoboda in August 2016. Previously, she worked in the Department of Pathology at the Houston Methodist Research Institute from 2014 to 2016. She received her Bachelor's of Science degree in Biotechnology-Bioinformatics from University of Houston in May 2016. Maryam’s main focus is on molecular biology aspects of disease mechanisms and developing the underlying knowledge needed to design new therapeutics to treat SMA and AHC patients.
Duhman Muhtaseb joined Dr. Swoboda’s lab as a Research Technician II. He received his Bachelor’s degree in Genetics and Biotechnology in 2013 from Jordan University of Science and Technology, and his Master’s degree in Biochemistry and Molecular Biology/ Neuroscience in 2016 from Keck School of Medicine of the University of Southern California. His master’s thesis was to culture neuronal cells derived from the olfactory neuroepithelium and grow them in organoids as a model system for schizophrenia and other neurodevelopmental disorders, for which he won the 2015 summer research fellowship from the Department of Biochemistry and Molecular Biology. His undergraduate training was in human medical and pharmacogenetics. He also interned in a genetic counseling clinic and worked on a project that aimed to study the genetics of autism in the Jordanian population. Duhman is very interested in developmental neurogenetics and wants to gain more experience through this exciting opportunity so he can advance his education and future career.
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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