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Meet Our Team | Overview

small - Annapurna Poduri, MD, MPH Annapurna Poduri, MD, MPH
Director, Epilepsy Genetics Program/Attending Physician

 

Ann directs the Epilepsy Genetics Program at Boston Children’s Hospital as a clinician-scientist, with one hand in the clinic as a pediatric epileptologist and the other hand in the laboratory on a mission to identify the genetic underpinnings of epilepsy. She is a Professor of Neurology at Harvard Medical School, the Diamond Blackfan Chair of Neuroscience Research and the Director of the Neurology Department’s Neurogenetics Program at Boston Children’s.

Ann received her BA in Biology summa cum laude from Harvard University, her MD from the University of Pennsylvania School of Medicine, and her MPH from the Harvard School of Public Health. She completed pediatric training at Boston Children’s Hospital, child neurology residency at the Children’s Hospital of Philadelphia, and clinical neurophysiology fellowship at Boston Children’s Hospital. It was through her rich clinical training that she developed research hypotheses that she pursued as a post-doctoral fellow in the laboratory of Christopher A. Walsh, where she received rich training and mentorship in dominant and recessive neurogenetics and pioneered the study of mosaic (post-zygotic) mutation in developmental brain disorders that lead to epilepsy. Ann started the Epilepsy Genetics Program at Boston Children’s in 2011 to create a translational infrastructure for clinical and research activities focused on epilepsy genetics. She started her independent research laboratory at Boston Children’s Hospital in 2013, integrating clinical research with bench laboratory research focusing primarily on the zebrafish model system.

Ann is a key participant in epilepsy genetics research at the local, national, and international level. She has been part of an international effort to understand the genetics of severe early-onset epilepsies; she served as the Boston Children’s Investigator for the NIH-funded Epilepsy Phenome/Genome Project (EPGP), a national, multi-centered research study, and Co-Investigator for the Epi4K follow-up study. She serves on the International League Against Epilepsy Genetics Commission and chairs the American Epilepsy Society/National Institute of Neurological Disorders and Stroke (NINDS) Benchmarks Stewards Committee.
 

small - Beth Rosen Sheidley, MS, CGC Beth Rosen Sheidley, MS, CGC
Co-Director, Epilepsy Genetics Program/Director, Genetic Counseling

 

Beth is a licensed genetic counselor with over 25 years of experience in clinical genetic counseling, research and teaching. Her areas of expertise include epilepsy, autism, psychiatric illness and both prenatal and pediatric genetic counseling. As Co-Director of the Epilepsy Genetics Program, Beth is involved in all aspects of program planning and development.

Beth provides genetic counseling to families seen in our Epilepsy Genetics Clinic, supervises the genetic counseling and clinic/clinical research staff, oversees the implementation of our research efforts, and coordinates our involvement in several collaborative research projects. She is a founding member and Co-Chair of EpiGC, an international network of genetic counselors who specialize in epilepsy genetics and who are dedicated to the education of both providers and families. Beth also serves on the Epilepsy Foundation’s Professional Advisory Board, and is the Co-Editor of genetics content for the Epilepsy Foundation’s website.

Beth received her BS degree from Cornell University in 1990 and her MS in genetic counseling from Brandeis University in 1994. She joined the Department of Neurology at Boston Children’s in 2010. In addition to her role in the Epilepsy Genetics Program, Beth is a member of the Advisory Board for the Brandeis University Genetic Counseling Graduate Program, where she served as professor of the practice/co-director of research and professional development from 2005 through June 2014.
 

small - Christelle Moufawad El Achkar, MD Christelle Moufawad El Achkar, MD
Attending Physician

 

Dr. Achkar is an attending physician in the Epilepsy Genetics Program and the Division of Epilepsy and Neurophysiology. She is fluent in English, Arabic, and French, and studied biology before attending the American University of Beirut Medical Center (AUBMC) for medical school. Prior to coming to Boston Children’s for her child neurology residency, Dr. Achkar completed her pediatric residency at University Hospitals Rainbow Babies & Children’s Hospital in Cleveland as well as a research fellowship on the use of intracranial EEG recording of high frequency waves in mapping eloquent cortical areas at University Hospitals Cleveland Medical Center. She completed an additional clinical fellowship year under Drs. Annapurna Poduri and Heather Olson in the Epilepsy Genetics Program, during which she focused on the diagnosis and management of multiple causes of epilepsy genetics. Her training also includes autism spectrum disorder clinics under the supervision of Dr. Sarah Spence.

Dr. Achkar’s main research and clinical interest is precision medicine and the application of novel therapies in rare genetic epilepsies, including anti-sense oligonucleotide therapies (ASOs). She has been a principal investigator on several N-of-1 ASO trials for rare neurological conditions developed at BCH by Dr. Tim Yu's lab and works on clinical trial design for rare epilepsies.
 

small - Heather Olson, MD, MPH Heather Olson, MD, MPH
Attending Physician

 

Dr. Olson is a neurologist and epileptologist at Boston Children’s Hospital with board certification in neurology and special qualification in child neurology. She has fellowship training in epilepsy and clinical neurophysiology, as well as in neurogenetics, with a focus on epilepsy genetics. She also has experience and interest in neonatal neurology. She is an attending physician in the Epilepsy Genetics Program, through which she sees patients for consultations and management of epilepsy. She sees additional patients for consultation as part of the Brain Development and Genetics Clinic, and she is an attending physician in the Neonatal Neurology Follow-up Program with a focus on epilepsy and neurogenetics. Dr. Olson is also co-director of the CDKL5 Center of Excellence.

Dr. Olson has ongoing related research projects that focus on understanding and determining the underlying genetic causes of epilepsy, including the overlap of inflammatory and genetic mechanisms of epilepsy. She has expertise in both phenotypic and genotypic analysis. She is the local contact for the Rasmussen Encephalitis Research Consortium and neurologist for the Angelman Syndrome Natural History Study. In 2013, Dr. Olson was selected as the recipient of the Logan Infantile Spasms Award and Research Grant by the Child Neurology Foundation.
 

Catherine L. Salussolia, MD, PhD Catherine L. Salussolia, MD, PhD
Attending Physician

 

Dr. Salussolia is a neurologist and epileptologist at Boston Children’s Hospital with board certification in neurology and special qualification in child neurology. She has fellowship training in epilepsy and clinical neurophysiology, as well as in neurogenetics, with a focus on epilepsy genetics and tuberous sclerosis. She is an attending physician in the Epilepsy Genetics Program and the Tuberous Sclerosis Clinic, through which she sees patients for consultations and management of epilepsy.

Dr. Salussolia obtained her Bachelor of Arts in Psychology with a minor in Biology from Swarthmore College. She completed a Masters in Science at Albany Medical College in the Neuropharmacology and Neuroscience, and then received her MD/PhD degrees through the MSTP program at Stony Brook University. Her doctoral work utilized molecular techniques to identify and characterize the biogenesis of ionotropic glutamate receptors (NMDA and AMPA receptors) and its effects on disease states. She completed her pediatrics training at Stony Brook University followed by child neurology residency and fellowship training in clinical neurophysiology and neurogenetics at Boston Children’s Hospital. Her current research focuses on the molecular mechanisms of inhibitory signaling, specifically parvalbumin interneurons, in tuberous sclerosis-associated epilepsy.
 

Sara Trowbridge, MD

Sara Trowbridge, MD
Attending Physician

Dr. Trowbridge is a neurologist and epileptologist at Boston Children's Hospital with board certification in neurology and special qualification in child neurology. She has additional fellowship training in epilepsy, clinical neurophysiology, and neurogenetics. Dr. Trowbridge obtained her Bachelor of Arts in Neurobiology from Harvard University and completed her MD degree through the Harvard-MIT Program in Health Sciences and Technology (HST) at Harvard Medical School.  She conducted her residency training in child neurology and fellowship training at Boston Children's Hospital. Her current research focuses on the molecular mechanisms underpinning neurodevelopmental disorders caused by variants in genes involved in chromatin regulation and gene transcription ("chromatinopathies").

 

small - Kimberly Wiltrout, MD Kimberly Wiltrout, MD
Attending Physician

 

Dr. Wiltrout is a neurologist and epileptologist at Boston Children’s Hospital with board certification in neurology with special qualification in child neurology. Dr. Wiltrout obtained her Bachelor of Arts in neuroscience at Franklin & Marshall College and her MD degree at the University of Rochester. She completed her child neurology residency and epilepsy fellowship at Washington University in St. Louis before completing a fellowship in the Epilepsy Genetics Program at Boston Children’s Hospital. In addition to seeing patients in the Epilepsy Genetics Program, she is actively involved in clinical research projects with a focus on SYNGAP1 Related Disorder.
 

Candice Marti, MSN, CPNP

Candice Marti, MSN, CPNP
Certified Neurology Nurse Practitioner

Candice Marti is a certified neurology nurse practitioner in the Epilepsy Genetics Program and the Division of Epilepsy and Neurophysiology. She received her MSN from Simmons College in Boston, MA in 2008 and has been a member of the epilepsy team at Boston Children’s Hospital since that time. She has a special interest in families with chronic conditions and currently follows a wide variety of patients with genetic conditions.
 

small - Sonal Mahida, MGC Sonal Mahida, MGC, CGC
Genetic Counseling Program Manager

 

Sonal joined the Epilepsy Genetics Program in June 2018. Her area of expertise is neurogenetics. She provides counseling to families seen in our Epilepsy Genetic Clinic as well as our Neonatal Epilepsy and Neurogenetics Clinics. Her research activities include coordinating and overseeing our KCNQ2 patient registry.

Sonal received her BS in biology from the University of Massachusetts Amherst in 2012 and her master's degree in genetic counseling from the University of Maryland, Baltimore in 2014. She worked at the Kennedy Krieger Institute in the Department of Neurogenetics before coming to Boston Children’s.

 

Rebecca Reef Rebecca Reef
Genetic Counseling Assistant

 

Rebecca joined the Neurogenetics Program as a Genetic Counseling Assistant in June of 2020. She acts as a liaison between families, genetic counselors, testing laboratories, and health insurance providers. Rebecca graduated from University of Rochester in 2020 with a B.S. in Neuroscience and a minor in Clinical Psychology. She is currently enrolled in a genetic counseling graduate program at the University of Pennsylvania.
 

Ivan Ruiz Ivan Ruiz
Genetic Counseling Assistant

 

Ivan joined the Neurogenetics Program as a Genetic Counseling Assistant in June of 2023. In this role, he serves as a liaison between providers, patients, insurance companies, and genetic testing laboratories. Additionally, he assists with genetic counseling research within the Neurology Department. Ivan is particularly interested in disparities in health and healthcare, especially in genetic counseling. Ivan graduated with a BS in Biology from Haverford College in May 2023. Ivan plans to attend genetic counseling graduate school with the ultimate career goal of becoming a genetic counselor.

 

small - Gillian Prinzing, MS, CGC Gillian Prinzing, MS, CGC
Genetic Counselor I

Gillian (she/her) joined the Epilepsy Genetics Program in July of 2022. She provides genetic counseling to families in the Neurogenetics Program and Epilepsy Genetics Program clinics. Gillian received her BS in Biological Sciences from Cornell University and her MS in Genetic Counseling from Boston University.


 

small - Lacey Smith, MS, CGC Lacey Smith, MS, CGC
Genetic Counseling Program Manager

 

Lacey Smith is a clinical and academic genetic counselor who joined the Epilepsy Genetics Program in May of 2014, where she serves as the Genetic Counseling Program Manager for Epilepsy Genomics. She provides genetic counseling services to families seen in our Epilepsy Genetics Clinical Consultation Program. Her research interests aim to better understand the genetic contributions to the epilepsies, particularly through our genome-wide sequencing studies and collaborative gene discovery efforts. She is a coordinator of the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, incorporating both gene- and disease-specific expertise into modifying variant classification rules. Lacey is a founding member of EpiGC, an international network of genetic counselors who specialize in epilepsy genetics and who are dedicated to the education of both providers and families, and is a member of the professional advisory board of the Epilepsy Foundation New England.

Lacey received her BS in Biological Science from the University of Vermont in 2009 and her MS in Genetic Counseling from Brandeis University in 2014.
 

small - Rozalia Valentine, MS, CGC Rozalia Valentine, MS, CGC
Genetic Counselor I

 

Rozalia Valentine joined the Epilepsy Genetics Program in July 2021. As an expert in pediatric neurogenetics, Rozalia works with the families of children with neurological disorders to help find genetic etiologies.

Rozalia received her BA in psychology from the University of California, Berkeley, in 2015 and her MS in genetic counseling from the University of North Carolina, Greensboro, in 2021. While earning her degree, she provided genetic counseling services to families of children with Angelman syndrome at the Center for Individuals with Developmental Disabilities. She credits her background in research in frontal lobe inhibition in ADHD with sparking her interest in neurogenetics.

In addition to her clinical work, Rosie volunteers in variant curation and looks forward to future research opportunities.
 

small - Anastassiya (Anastasia) Kokhanova Anastassiya (Anastasia) Kokhanova
Program Coordinator


Anastasia joined the Epilepsy Genetics Program in September of 2022. She manages the clinical program and is the primary point person for referrals and communicating with families about intake information. Anastasia was born in a city of Almaty in Kazakhstan. She received her B.S in Management with a minor in Psychology from Bridgewater State University in 2021. Anastasia aspires to pursue a Master’s in Administration.

 
Maya Davis

Maya Davis
Clinical Research Assistant

Maya joined the Epilepsy Genetics Program in June of 2023. She is currently recruiting and enrolling families into research studies, including the CACNA1A registry. Maya graduated from Wellesley College in 2023 with a BA in Biological Sciences and a minor in Psychology. She is a New Hampshire native and has worked extensively with people with disabilities. Maya is thrilled to be working closely with genetic counselors and, in the future, hopes to become a genetic counselor herself.

 

Cesar Urzua

Cesar Urzua
Bilingual Clinical Research Assistant

Cesar joined the Poduri Lab and the Epilepsy Genetics Program as a Bilingual Clinical Research Assistant in June 2023. He is currently recruiting and enrolling families and patients into our research studies, including the KCNQ2 registry. He is also the co-chair for a PRADA committee, IMPaCt, a group of BCH research assistants, who visit Children’s in-patient psychiatry unit to sing a mix of songs with the children. Cesar graduated from Tufts University in May of 2023 with a major in Biology and a double minor in Child Study and Dance. In the coming years, he plans to pursue an MD/MPH for a career in medicine and public health/health equity.

 

small - Alissa D'Gama, MD, PhD Alissa D'Gama, MD, PhD
Research Fellow

 

Alissa joined the Poduri Laboratory and Epilepsy Genetics Program in 2021. She is a physician-scientist with interests spanning neonatology, developmental neuroscience, and translational genomics. She received her BA in molecular and cellular biology from Harvard College in 2011 and completed a combined MD-PhD program at Harvard/MIT, receiving a PhD in biological and biomedical sciences under Dr. Christopher A. Walsh from Harvard Medical School in 2016 and a MD from Harvard Medical School/MIT Health Sciences and Technology in 2018. She completed pediatrics residency training in the Boston Combined Residency Program at Boston Children’s Hospital and Boston Medical Center on the accelerated research pathway. She is currently a fellow in neonatal-perinatal medicine in the Harvard Neonatal-Perinatal Medicine Fellowship Training Program. Alissa is co-mentored by Dr. Timothy Yu, and her research currently focuses on early onset epilepsies, somatic mosaicism, and neonatal genomics.
 

Anna Duncan, MD, MHS Anna Duncan, MD, MHS
Research Fellow

 

Anna is a neonatologist and physician-scientist who is interested in rare genetic causes of neurodevelopmental disorders. Her research is within both the Poduri and Agrawal laboratories at Boston Children’s Hospital. Anna obtained her BA in architectural studies from Brown University in 2008, and her MD and MHS degrees from the Yale School of Medicine in 2015. While at Yale she studied the genetics of heterotaxy under the mentorship of Dr. Mustafa Khokha, modeling causative genes in Xenopus. She completed her pediatrics residency at the Children’s Hospital of Philadelphia followed by her neonatology fellowship in the Harvard Combined Neonatal-Perinatal Fellowship Training program. Her fellowship research focused on cohorts of patients with neurodevelopmental disorders and novel variants in the genes KDM4B, MPP5, CLCN3, and EIF4A2. ​She is currently a neonatology attending at Massachusetts General Hospital for Children and an Instructor in Pediatrics at Harvard Medical School. In the Poduri laboratory, Anna is using zebrafish to model rare genetic causes of neurodevelopmental disorders.
 

small - Chris McGraw, MD, PhD Chris McGraw, MD, PhD
Research Fellow

 

Dr. McGraw joined the Poduri Laboratory and Epilepsy Genetics Program in July 2018. He is a physician-scientist with interests spanning epilepsy and clinical neurophysiology and makes use of diverse animal models as well as human data to improve our tools for treating seizure disorders. Dr. McGraw received his BA in biochemistry and cell biology at Rice University in 2004 and he completed a combined MD/PhD program at Baylor College of Medicine, earning a PhD in developmental biology under Dr. Huda Y. Zoghbi MD in 2012 before graduating in 2014. He attended residency in adult neurology at University of California, San Francisco (UCSF), where he was awarded an R25 supplement to study epilepsy in zebrafish with Dr. Scott Baraban, PhD. He is currently a fellow in epilepsy at Massachusetts General Hospital (MGH) in addition to continuing basic science research in zebrafish through the Epilepsy Genetics Program at Boston Children's. Dr. McGraw is interested in developing novel models of epilepsy in zebrafish with high translational potential, with a special interest in high-throughput whole organism screening strategies using zebrafish.
 

small - Mark Lacoursiere Mark LaCoursiere
Laboratory Research Technologist

 

Mark is the lead research technologist for the Poduri Lab and Epilepsy Genetics Program. In this role, he is responsible for conducting biochemical experiments to find novel genetic etiologies of epilepsy. He is currently screening large numbers of epilepsy genes in zebrafish models using high-throughput behavioral assessment and automated seizure detection methods. Mark joined the Epilepsy Genetics Program in 2012 after graduating with a Wildlife Biology degree from the University of Massachusetts, Amherst. In 2019, he completed a Master’s degree, with a thesis on the expression of immediate early genes in zebrafish larvae with seizures.
 

Guoqi Zhang, MD, PhD Guoqi Zhang, MD, PhD
Research Technologist

 

Guoqi joined the Poduri Lab and Epilepsy Genetics Program in July 2020 as a research technologist. Guoqi received his MD in clinical medicine at Qingdao University Medical School in China and later completed his PhD in molecular medicine at Osaka University in Japan. He has a deep interest in genetics and its certain capacity to revolutionize clinical medicine. Currently, he is using the zebrafish as an animal model for epilepsy deploying in vivo image analysis of tissue dynamics, and genetic connections in the hopes of discovering a link between these genes and epilepsy. He is very excited to work collabollatively with the team to use the CRISPR/Cas9 system to combine developmental biology and pathology to illuminate the process of tissue homeostasis.