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 R. R. Alves, PhD
I am a physiologist focused on understanding the crosstalk between skeletal muscle and other tissues in the body. After concluding my Ph.D. from the University of Sao Paulo (Brazil), I moved to Boston as a postdoctoral research fellow at the Joslin Diabetes Center, Harvard Medical School. While at Joslin, I led projects focused on the therapeutic effects of exercise training to improve systemic metabolism through inter-organ communication. I am currently at the Center for Genomic Medicine at Massachusetts General Hospital where I am dedicating my research efforts to understanding the physiopathology of neuromuscular diseases. Our main focus is to discover new biomarkers and therapeutic targets to track and treat spinal muscular atrophy and other neurogenetic diseases.
Jin Yun (Helen) Chen, LGC
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 D Simeone, PT, DPT, PCS
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.
Elise Townsend, PhD, DPT, PCS
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.
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 Z. Zhang, MPH
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.
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.
Maria S. Herrmann
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 E. Rodrigues
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.
Reid joined the Swoboda lab as a research technician in February 2019 after completing her BS in biochemistry at Ithaca College. Her main focus has been understanding molecular mechanisms and underlying pathologies of non-neuronal tissues. Previous to joining the team, Reid worked as a perioperative care assistant in the operating room at Cayuga Medical Center. She also did her undergraduate research in protein structure, using NMR to analyze dimerization between Auxin response factors. She will be attending the Uniformed Services University of Health Sciences this Fall for medical school.
Eric J. Eichelberger
At Ithaca College, I have had two and a half years of lab experience working with fibroblast growth factor receptors. This has sharpened my skills in RNAi, CRISPR/Cas9, and genetic screening. At OyaGen Inc., I was involved in mammalian cell culture, numerous protein assays, and high throughput screening for HIV antiviral therapies through APOBEC3G activity. At SQZ Biotechnologies I was involved in genetic manipulation and modification using the CRISPR/Cas9 system. Currently I am researching molecular processes surrounding Spinal Muscular Atrophy in the Swoboda lab at MGH-harvard medical school.
Salome Da Silva Duarte Lepez (DSDL)
Salome DSDL joined the Neurogenetics Unit with Dr. Kathryn Swoboda as a research technician after obtaining her BA in Neuroscience and International Government & Legal Studies from Bowdoin College in 2019. During her undergraduate years she studied neurobiology at Bowdoin, biotechnology at Yonsei University (Seoul, South Korea), and motor neuron function at the Okinawa Institute of Science and Technology (Okinawa, Japan). In addition to her education in biosciences, she has led several projects delving into the intersection of science and policy, through independent research on global mental health in South Korea, several West African countries and the US, filmmaking for science accessibility, and writing on science ethics for her senior seminars and Bowdoin’s newspaper. Salome is working for Dr. Swoboda’s research team to study Spinal Muscular Atrophy, focusing on the non-neuronal targets of the disease, as well as the political and legal concerns affecting patients.
Elizabeth A. Arruda
Elizabeth (Liza) joined the MGH Neurogenetics Team in December 2019 as a Clinical Research Coordinator investigating multidisciplinary clinical support for individuals diagnosed with Spinal Muscular Atrophy (SMA) and the effects of different treatment options on disease progression. She graduated from Georgetown University Pre-Med with a BS in Human Science in 2018. During her undergraduate years, she studied theology in Florence, Italy and genetics and epidemiology in Tel Aviv, Israel. As a senior, Liza completed her Capstone Project in the Laboratory for Dementia and Parkinsonism investigating the change in cognitive and motor behavior before and after treatment in a mouse model of motor neuron disease (MND) and frontotemporal dementia (FTD). Just after graduation and prior to joining the Swoboda Lab, she spent a year in Bogotá, Colombia as a fourth grade science teacher with the goal of improving her Spanish speaking skills. During that year, she traveled to Peru as a medical volunteer to treat and educate a developing community in Trujillo. Liza aspires to be a bilingual MD or DO treating patients in the US and beyond.