"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our team of leaders strive every day and in every way to improve the lives of not only the patients, but the entire family.
Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
Leah Schust Myers
Leah has spent her entire career working in health care administration and never imagined she would find a use for her skills in an entirely different way. From medical secretary to hospital manager and everywhere in between, Leah learned how to manage the needs of large populations within a medical setting. When her son, Ben, was diagnosed with an SCN2A Disorder in 2012, it became abundantly clear how to leverage her 20+ years of experience to help not only her family, but hundreds of others.
In July of 2019, Leah transitioned from her volunteer position as President of the Foundation Board, to a full time Executive Director role. The experience she brings with her, especially from her most recent position as Executive Project Manager for a fortune 500 Healthcare company, is giving the foundation the professional edge to meet the growing needs of the community.
Communication and collaboration being her area of expertise, Leah has been instrumental in forming relationships with clinicians and scientists to advance progress in studying SCN2A and novel treatments. These alliances with researchers and industry leaders have been influential in catapulting SCN2A on to the map of exciting targets to study.
Carla Forbes has an internal drive to get things right. This drive stems from her many years spent in dance tediously practicing routines until she reached perfection. When her child was born and immediately started having seizures, she faced the challenge head on, fighting for the best care from the start. Carla does not settle for “good enough” in any aspect of her life, but especially not when it comes to her son, Colin. When she learned of his diagnosis, a rare genetic condition called SCN2A, she immersed herself in learning more and was one of the first to join the online support group set up to connect families with the same diagnosis. From day one, Carla spent her time in the group encouraging and surrounding the other parents with her positive and caring attitude. Quickly, she became a leader in the group and co-founded the FamilieSCN2A Foundation, a 501(c)3 set up to find a cure for SCN2A. Carla wears many hats to help in the foundation, including Vice President, Community Support Chair, Finance Committe Member, and family mentoring. But most importantly, she believes in a cure and makes it her life mission to share the hope with others.
Chief Scientific Officer
Shawn lives in Buffalo, NY with his wife Stephanie Egan PhD, and three daughters Harper (5 years old), Vivienne (3 years old), and Ella (1 year old). Harper has a D195G SCN2a mutation and presents with epilepsy, choreiform, and generalized muscle weakness.
He is passionate about advancing the SCN2a mission with the goal of developing a transformative medicine for SCN2a and improving the quality of life for those who harbor the mutation.
Shawn has over a decade of experience across many levels of drug development and healthcare including: 1. academic bench side research, ~10 years working at Roswell Park Cancer Institute on RNA metabolism in oncology and immunology. 2. Pharmaceuticals/biotech; ~5 working at Citigroup as a Wall Street Analyst covering biotech drug development. On Wall Street Shawn became well recognized for his expertise in genetic medicines and pediatric neurology. 3. Shawn is also in a leadership role at Mobile Primary Care and Mobile Telemed, an emerging healthcare company that specializes in bringing comprehensive primary care directly to the patients in greatest need.
Brad Bryan, PhD MBA
Scientific Advisor, Director of Patient Registry Affairs
Brad is a scientist, educator, innovator, entrepreneur, and veteran. Dr. Bryan has been recognized as a top leader in healthcare, and his passion for innovation has furthered our understanding of neurobiology, cardiovascular biology, and oncology. Dr. Bryan is published in over 60 scientific, peer-reviewed journals, and he has led healthcare organizations as well as founded medical technology, clinical research, and genomics companies.
Dr. Bryan is most known for successfully leading a scientific discovery team that developed a novel treatment for a rare form of sarcoma and for developing prognostic and diagnostic biomarker assays for various diseases.
When not wearing his lab coat, he can be found volunteering, practicing martial arts, enjoying the outdoors, and mentoring kids through his local chapter of 4H.
Christina SanInocencio, PhD, CPH, CNP
Christina is a health communication scholar and practitioner with methodological expertise in qualitative research. She has been involved in rare disease advocacy, particularly in the rare epilepsies, for over 15 years. In 2008, Christina founded the Lennox-Gastaut Syndrome (LGS) Foundation, an international non-profit organization dedicated to individuals living with this rare and catastrophic form of epilepsy. She is also the sibling to an adult man named Michael who has been living with LGS for over 30 years. Dr. SanInocencio holds a PhD in health communication and holds academic appointments as a Visiting Assistant Professor at Fairfield University and as an adjunct professor at Stony Brook University. She also holds two professional certifications; a CPH (certification in public health) and a CNP (certification in nonprofit management). Her research interests include social support in rare diseases, health literacy, patient-provider communication, and lived experiences of rare disease patients and their families.
Anne Berg, PhD
Director, SCN2A Clinical Trials Readiness Study
Anne T. Berg, PhD is an epidemiologist and clinical researcher whose research over the past 30 years has focused on the “natural” history of seizures and epilepsy with a specific emphasis on seizure outcomes, developmental and cognitive consequences of epilepsies in children and the impact all of these have on quality of life for patients and families. In 2007, she played a pivotal role in focusing NINDS research priorities on the cognitive, developmental, and behavioral co-morbidities of epilepsy. In 2013, she co-Chaired the NINDS-sponsored Curing Epilepsies conference. She organized and led the workshops, “Priorities in Pediatric Epilepsy Research: Improving Children’s Futures Today” (Neurology, 2013) and “Seizure burden in severe early-life epilepsy: Perspectives from parents” (Epilepsia Open 2019). Dr. Berg led the US multicenter Early Life Epilepsy Study which highlighted the importance of early genetic - “precision” - diagnosis for infants presenting with seizures (JAMA Pediatrics 2017). She designed and led the Natural History Project and the Ability Study aimed at understanding the full impact and range of neurological, medical, behavioral, and other challenges for children and families affected by developmental epilepsies and encephalopathies. Currently she directs the SCN2A Clinical Trial Readiness Study and is intensely involved in the Inchstone Project led by DEE-P Connections. Her efforts are now singularly focused on developing measures of important clinical outcomes to support the design of efficient and informative clinical trials for rare neurological diseases.
Karen S. Ho, PhD
Karen lives in Salt Lake City with her husband, Suresh Venkatasubramanian, a computer science professor at Brown University, their two sons, Aditya (17) and Rohan (15), two cats, and approximately 67 orchids. Before she became a mom, Karen studied the development and neurobiology of fruit flies at Stanford University where she earned her PhD, and finished a postdoctoral fellowship in neuroscience at the University of Pennsylvania. She had planned on having a career as an academic biologist, until her sons, who were both born premature, appeared on the scene. Because of their respective medical challenges at birth, they showed her first-hand that she really ought to learn more about tiny humans. Thus began a lifelong lesson for her on how fascinating tiny humans, too, could be.
Karen is passionately aware that we are now at a crucial turning point in the treatment of rare disease. She is deeply committed to applying her scientific knowledge to leverage development of therapies, treatments, and even cures for pediatric rare diseases. She has served as a scientific advisor on the Boards of several rare disease groups, and has worked in the biotech industry for over ten years. In addition to her work with FamilieSCN2A, she serves as VP, Translational Medicine, at Clene Nanomedicine, a clinical stage pharmaceutical company developing drugs for the treatment of neurodegenerative diseases.
In 2012, Jenny Burke was grateful to finally have a diagnosis for her son, Alex, who has suffered from devastating seizures since birth. But it wasn’t until Leah Schust connected with her three years later that she began to have hope in finding a cure for this rare genetic disorder. Jenny draws on her experiences in the publishing industry and as a small business owner to help the FamilieSCN2A Foundation reach it’s research and fundraising goals. She feels blessed to be working from home on behalf of all families affected by an SCN2A mutation while caring for her family (Alex's big brother, Sam, and husband, Mike) and volunteering in the local community. She lives in Sterling, Virginia.
Mery Oman is a nurse practitioner living in southern California with her husband Matthew, and sons Ethan and Liam. Despite her medical background, nothing could have prepared her to be “on the other side,” as a parent of a very sick child. Ethan was born in 2016 and had seizures starting on his first day of life. After 2.5 months in the neonatal intensive care unit, Ethan’s genetic epilepsy panel showed he had an SCN2A mutation. Since then they have struggled to control his seizures and his severe dystonia while aiming to give him the best quality of life possible.
She has always been passionate about helping others, which is why she pursued a career in healthcare. At work, she takes care of patients and gets them on the path of feeling better. At home, she often feels helpless because she is unable to do the same for Ethan, as she can’t cure him. But this feeling of helplessness does not mean she is hopeless. With her background and training, coupled with her passion and drive, she is determined to do everything she can to help find a cure for Ethan and everybody who suffers with SCN2A disorders.
Board member Michelle Lewis was blessed with the birth of her first and only child, Eliana, in 2013. Shortly after birth, Eliana began having seizures, which began a five month journey in the NICU, where Eliana received her SCN2A diagnosis. Along with being a FamilieSCN2A Foundation board member, Michelle is a full time special education teacher and avid sports fan. She resides, with her family, in Kansas City, Missouri.
Michael believes every child should have an opportunity to achieve a happy, fulfilling and productive life. Although Michael does not have a special needs child, he believes helping FamiliesSCN2A Foundation achieve its mission will make the world a better place. Assisting the Foundation to build awareness, provide support, and find a cure for children with SCN2A is the ultimate reward.
Currently, Michael is the Chief Financial Officer of Fortiss, LLC and serves as a Director on five California cardroom entities in the State of California. Michael earned an undergraduate degree in Business/Economics from University of California, Santa Barbara, and a Masters of Business Administration from the Loyola Marymount University. Additionally, Michael is a licensed Certified Public Accountant in the State of California.
BOARD OF DIRECTORS
Director at Large, Research Committee
Will is father to Emery and husband to Jamie, he thinks they make a pretty great team. By day he’s the founder and CEO of one of the top independent creative agencies in the Middle East (LMTD) and one of the foremost mentors in the MENA startup movement (Wamda, Techstars, Flat6, and MIT MediaLab). He’s been based in the Middle East for nearly 7 years and has built some of the best digital campaigns in the region.
Previous to this, he helped lead one of the fastest growing agencies in NYC (Carrot), and before that he was Managing Editor for Disney’s first foray into social media running the launch from strategy to implementation growing them to over 300 Million fans on Facebook and taking part of the first ever promoted tweet on Twitter.
Will is passionate about family, travel, and helping to find a cure for SCN2A disorders!
Catalina Betancur Santamaria
Director at Large, Community Support Chair & International Committee Member
Catalina, is originally from Colombia, and moved to the United States after completing her Bachelor’s Degree in Business Administration. During her first years in the US, she worked at the Organization of American States and the Embassy of Jamaica while also pursuing a Master of Arts in Transportation Policy, Operations and Logistics.
She has always had in her mind that one who perseveres, succeeds. So, when she noticed that Mateo, her younger son, was having difficulty reaching simple milestones, she knew something was not right. Catalina set her mind to finding out what was happening to Mateo in order to get him the help he needed. Little did she know, this turned to be the toughest time and fight of her life. Catalina had to educate herself in some areas that were unknown to her in order to have the right arguments to convince doctors and family members that Mateo needed help.
She has grown to be a self-starter with mind towards continuous improvement. When the FamilieSCN2A Foundation requested volunteers to join their mission, Catalina didn’t hesitate to apply. She is proud to serve and loves to be in contact with other SCN2A families to help them in any way they need.
Mateo was diagnosed with a SCN2A related disorder at 18 months. It’s been a difficult journey since then but they are trying to spend their days not only in therapies and doctors appointments but enjoying their family and life together.
Catalina lives in Georgia with her Husband Guillermo and their two sons, Miguel and Mateo.
Director at Large, Research Committee
In 2017, Emily Park reached out to FamilieSCN2A in search of a partner for gene therapy. Emily’s daughter, Caroline, was diagnosed with SCN2A at the age of 2 and started seizures at age 4. Leah Schust responded almost immediately to Emily’s online inquiry through the foundation’s web site, and since then, the two have been discussing how to make the possibility of gene therapy a reality. After a year of discussion, in 2018, Emily and her husband John made the relationship with FamilieSCN2A more official, by joining the board and pledging a private donation to contract with collaborators.
As a daughter of a Methodist Pastor, Emily draws from her experience in volunteerism. She has also spent the last several years managing projects within John’s organization, Parkwest Casinos. More recently, Emily launched her own women's retail business Le Box Blanc. Emily and John reside in Los Angeles and have three children- Henry, Caroline “CC”, and Lillian. Emily and John love to travel with the kids and barbecue in their back yard.
Director at Large
Maura is first and primarily a mother to Ashlyn in North Andover, Massachusetts who has SCN2A. There she works as an attorney for the national law firm managing Massachusetts and Maine cases against large banks and financial institutions.
Prior to moving back to Massachusetts from Maine a few years ago, Maura adjudicated business and employment cases for the Department of Labor. Previously, as General Counsel of a drug testing company, Maura minimized the legal risks advising its officers on matter of regulatory compliance.
Director at Large
Roger is a strong believer in a future where genetic diseases are a thing of the past. He's also realistic about how much invention, effort and care remains to get there. Roger is also the father of a 12-year-old son, Teddy, with an SCN2A mutation. The potential for seeing better treatments for kids like Teddy motivates him every day.
Professionally Roger leads Strategy and Corporate Development for IBM. He hopes to apply both the technology innovation and business experience from that role to the foundation. As a technologist and consultant, he's been in the technology industry for over 20 year. Prior to that he had a background in Molecular Biology from roles at Genentech and the University of Michigan.
Community Support Committee
Amy is mom to SCN2A warrior Bert. After a rough pregnancy Bert was born via C-section at 37 weeks & within 36 hours he was emergently taken to the NICU with hypoglycemia & apparent seizures. The seizures became obvious in the following weeks and after a stat Gene Dx sample was sent, Bert was diagnosed with an SCN2A mutation at just 3 weeks of age. After being written off by the genetic counselor, Amy took to the internet and found this little organization that just obtained 501 (c) (3) status: The FamilieSCN2A Foundation.
Active in fundraising for the foundation, Amy was fortunate enough to become a member of the Community Support Committee in 2018. Through this role she hopes to connect with other families and celebrate our remarkable children through the Birthday Club.
In addition to taking Bert to his numerous appointments, Amy also works as a pharmacist at the Minneapolis VA. She resides with her family in Victoria, MN.
Amanda Gale resides in Maine with her husband and their three children. Their middle guy, Henry (5), was diagnosed with SCN2A related Autism, Global Developmental Delay and ADHD (combined type) at the age of 2.
Henry is nonverbal and goes to a special education preschool with 1:1 assistance throughout the day, receiving PT, OT and Speech. He recently began learning how to use an AAC device (Augmentative and Alternative Communication) to express his wants and needs has been huge in Henry's autonomy.
In addition to advocating fiercely for her warrior son and juggling the needs of her three young children, Amanda is a Special Educator in their local school district and Music Director at First Parish Church in Yarmouth, Maine. Amanda has been volunteering with the Foundation since 2021 and loves the opportunity to connect with families from across the globe with the Wednesday Warrior featurettes, celebrating our special children each week.
Lead of Crisis and Loss Support
Tracy is the mother to three beautiful girls. Sophie who is 7. Charlotte who became an angel in 2016 after battling SCN2A for two and half years, and Maggie who became an angel in 2018 at the age of 33 weeks after a placenta abruption.
Charlotte began having seizures in utero, and when she was born was discovered to be having 400+ seizures a day. She was diagnosed with SCN2A at the age of three months. Her life was complicated with many hospitalizations surrounding inadequate seizure control, respiratory failure, bowel issues, and urinary retention. She spent over half of her short life in the hospital. She passed away on November 29, 2016 when it was apparent that her brain was no longer controlling basic functions, and the doctors were unable to get her out of status. The Umezu family did the best they could to surround her with as much Joy as they possibly could throughout her life, enabling her to be pushed in the Twin Cities full marathon, visit Hawaii, and enjoy many activities that typical children do.
Tracy works as a Pediatric Blood and Marrow Transplant nurse at the University of Minnesota Children's Hospital. In her free time she can be found leading Sophie's Girl Scout Troop, coaching swim team, filling in as Sophie's school nurse, and scrap-booking.
Amanda Van Schoick
Amanda Van Schoick lives in New York. She and her husband Jim are parents to Morgan, born in 2012, and their SCN2A warrior, Harrison (Harry for short), born in 2015. Harry was born at 37 weeks after a normal pregnancy and showed no signs of health issues at birth. As Harry grew, he started to show signs of developmental delay and by 9 months old, when he was not yet sitting up independently, Harry started in Early Intervention. By 18 months old, Harry was receiving PT, OT, Speech and Special Education services. In January 2018, at 26 months old, Harry had his first seizure. In the six months that followed Harry's first seizure, Harry was diagnosed with autism, apraxia and an SCN2A mutation. The SCN2A mutation diagnosis provided a lot of answers to the questions that Jim and Amanda had been seeking for Harry, and led them to find comfort in their new "family" through the FamilieSCN2A Foundation.
In addition to juggling the needs and demands of two very active children, including all of Harry's medical and therapy needs, Amanda is an attorney, and serves as real estate and construction in-house counsel for an American multinational corporation that designs, develops, manufactures and sells footwear and apparel worldwide.
Amanda began volunteering with the Foundation in 2019, with the hope of being able to assist with the Foundation's goals - connecting families and supporting research for a cure.
Angie lives in western Maryland with her husband, Isaac, and their three children, Jillian, Mark, and Luke. Her son Mark has an SCN2A-related disorder, which includes many diagnoses, including autism, osteoporosis, and epilepsy. Angie has a master's degree in clinical community counseling from Johns Hopkins University and is currently pursuing her doctorate in Organizational Leadership at Hood College. She oversees the Retention and Registration Office at Hagerstown Community College and volunteers on multiple committees and boards to increase the quality of life and services for people with disabilities. She chronicles her family's journey on her blog at AngieAuldridge.com/blog/ and co-hosts a podcast called Embracing Holland, which empowers, encourages, and inspires families living with disabilities. She is passionate about creating community, sharing stories, and supporting others in the face of fear and uncertainty.
Joey (Maria) Taminez
Joey was born in Cali, Colombia but grew up in the Washington, DC suburbs. She has spent the last decade working in politics, lobbying efforts and nonprofit organizations. Her expertise and passion lies in electoral campaigns and community organizing. She first learned about SCN2A through the Schust-Myers family and was Ben's babysitter throughout highschool and college. During her time with them she became an advocate for the FamilieSCN2A foundation while taking time to learn different therapies and accompanying them to hospital trips, doctors visits, and Foundation Conferences. Joey became the FamilieSCN2A Social Media Development Chair in 2018 and lives in Charlotte, North Carolina where she continues her work in community and grassroots organizing.
Hi! My name is Julie Doran and I am a second-year doctoral student in pediatric school psychology at East Carolina University in Greenville, NC. I have worked as an elementary teacher and nanny for children with developmental disabilities and chronic illnesses in the past. More recently, I have worked on transition programming for young adults with intellectual disability and my current research focuses on healthcare transition and caregiver well-being and mental health. In my free time, I enjoy hiking and camping with my partner and spending time with family and friends. I am looking forward to working with you all as a volunteer with FamilieSCN2A!
MEDICAL & SCIENTIFIC ADVISORY BOARD
Keith Coffman, MD
* Children’s Mercy Hospital, Kansas City, MO
* Director, Movement Disorders Program
Keith A. Coffman, MD, is Director of the Movement Disorders and Deep Brain Stimulator Programs and the Tourette Syndrome Association of America Center of Excellence at Children’s Mercy Hospital. Dr. Coffman graduated from Milton S. Hershey College of Medicine and completed his training in Pediatrics, Neurodevelopmental Disabilities, and Systems Neuroscience at Children’s Hospital of Pittsburgh and the University of Pittsburgh. Dr. Coffman was a faculty member at the University of Pittsburgh from 2008-2013, until he moved to Children’s Mercy Kansas City.
Katherine Helbig, MS, CGC
Katherine Helbig is a senior genetic counselor in the Division of Neurology at Children’s Hospital of Philadelphia and Co-Director of the Epilepsy Neurogenetics Initiative (ENGIN). She received her B.A. in Biological Sciences from Cornell University and M.S. in Genetic Counseling from Arcadia University. She provides genetic counseling to families in the Neurogenetics and ENGIN Clinics.
Ms. Helbig’s research interests include identifying new genetic causes of infantile- and childhood-onset epilepsies and understanding how genetic variation leads to seizure disorders. She has spearheaded gene-discovery efforts in the epilepsies and related neurological disorders and has been involved in the discovery and characterization of over 30 genetic neurological syndromes.
Ms. Helbig has particular expertise in genomic analysis and variant interpretation in the epilepsies. She is a member of the NHGRI-funded ClinGen Epilepsy Gene Curation Expert Panel, which defines the clinical relevance of genes and variants associated with epilepsy. She serves as a variant curation specialist for the NINDS-Funded Channelopathy-Associated Research Center, prioritizing variants in brain-expressed ion channel encoding genes for further characterization in functional model systems. An additional area of clinical and research interest is improving access to genetic services for people with epilepsy and understanding how the provision of genetic services can improve health outcomes.
Ms. Helbig is also a member of the International League Against Epilepsy Task Force on Clinical Genetic Testing in the Epilepsies and is Co-Chair and founding member of EpiGC, the consortium of epilepsy genetic counselors.
Caitlin Hudac, PhD
Caitlin Hudac, PhD Dr. Hudac is the Director of the Brain Research Across Development (B-RAD) Lab and an assistant professor at the University of Alabama. She received her doctoral degree in Developmental Psychology from the University of Nebraska-Lincoln and then worked closely with genetics-first researchers at the University of Washington where she became involved in studying SCN2A. Dr. Hudac studies how brains and behavior change from infancy through adulthood with a focus on the socioemotional development in children with and without autism. Her overarching goal is to understand mechanisms by which children with known genetic mutations like SCN2A exhibit phenotypes like autism or seizure in order to develop treatments and achieve a cure.
John Huguenard, PhD
John Huguenard is Professor of Neurology and Neurological Sciences, with additional appointments in Neurosurgery and Molecular and Cellular Physiology, at Stanford University School of Medicine. His work has focused on two forms of epilepsy, generalized genetic epilepsies (absence epilepsy) and post-lesional epilepsies subsequent to stroke or developmental lesions. A central theme is the inhibitory system mediated by the neurotransmitter GABA, which can play either seizure-promoting or seizure-suppressing roles, dependent on circuit location. His work has provided insight regarding the roles of specific neurotransmitter receptors within distinct synapses within epileptic networks, as well as the properties of the inhibitory neurons mediating such actions. Results from his work have supported development of synapse-specific (pharmacology) or cell specific (optogenetic) interventions designed to rein in epileptic circuits. He uses a variety of innovative methods, including in vitro and now increasingly in vivo techniques, including LFP and EEG recording in awake animals, whole cell voltage and current clamp intracellular recording in brain slices, calcium, sodium, voltage sensing and glutamate imaging including multiphoton imaging, neurocomputation, dynamic clamp, image analysis and immunohistochemistry.
In addition he has extensive leadership and research training experience, including directing the Stanford Epilepsy Training program for postdoctoral fellows for the last 10 years, and the Stanford Neurosciences PhD program from 2006-2013. He is committed to promoting rigorous research – he was an author on the recent NINDS rigor document regarding pre-clinical research (Landis et al, 2012), chaired the Gordon Research Conference on Epilepsy, served on both foundation and federal funded research review committees, and is recent past chair of the NIH CNNT study section. He is a strong proponent of rigorous and effective training, especially in neurophysiology and epilepsy research, with many of his trainees now established as principal investigators in the field, including several that received K99/R00 awards while under his supervision, including Mark Beenhakker (UVa), Xiaoming Jin (IU), and Jeanne Paz (UCSF/Gladstone) and Christopher Makinson (awarded in 2018).
Jennifer Kearney, PhD
Dr. Kearney received her Ph.D. in Neuroscience from The University of Michigan in 1997, and remained there for her postdoctoral training in Genetics. In 2002, she joined the faculty in as a Research Investigator in Human Genetics. After five years, she moved to Vanderbilt University in 2007 to join the Division of Genetic Medicine and the Institute for Integrative Genomics. And in July of 2014, Dr. Kearney joined the Department of Pharmacology at Northwestern University Feinberg School of Medicine. Her research program is focused on identifying genetic factors that contribute to childhood epilepsy and understanding how they contribute to the underlying pathophysiology by studying the effect of mutations in animal models. The overarching goal is to translate this knowledge to better treatments for refractory epilepsies.
Dennis Lal, PhD
Dr. Lal, formerly from the Broad Institute, uses genetic data from in-house and globally collected patient cohorts to discover genes related to epilepsy syndromes, to develop novel methods for interpreting missense variants and to characterize patient disease trajectories. Through his research, Dr. Lal hopes to increase our understanding of how alterations in the genome contribute to neurodevelopmental disorders and, ultimately, to improve patient outcomes.
Dr. Lal’s ong-term research interests involve the development of a comprehensive understanding of how alterations in the genome contribute to brain disorders. His academic training and research experiences have provided him with an excellent background in multiple disciplines including molecular biology, genetics, and bioinformatics as well as a comprehensive understanding of the clinical and neurological presentation of neuropediatric disorders. Overall, the main focus of the group that he leads is the discovery, evaluation, and translation of genetic variants into clinical care. Specifically, they aim to develop computational methods which integrate large genetic, clinical, and biological data sets to improve the prediction of genetic variant effects on patient outcomes – paving the way for personalized medicine.
John J. Millichap, MD, FAAN, FAAP, FAES, FACNS
Current clinical practice utilizes a multidisciplinary team approach to the diagnosis and treatment of pediatric epilepsy and comorbidities. Dr. Millichap has over 80 peer-reviewed medical publications and serves as the Section Editor of the Resident and Fellow Section of the journal Neurology and the Editor of Pediatric Neurology Briefs. As a member of the academic faculty of Northwestern University, he is involved in the education of trainees and grant-funded clinical research concerning epileptic encephalopathies and epilepsy genetics.
Heather Olson, MD
After medical school training at Mayo Medical School, Dr. Olson did all of her post-graduate training in Boston then came on faculty at Boston Children’s Hospital. Dr. Olson has a degree in epidemiology from the Harvard T.H. Chan School of Public Health. Her clinical focus in on Epilepsy and Neurogenetics/Epilepsy Genetics especially with infantile onset. She is a clinician and clinical researcher and her research is in the field of Epilepsy Genetics, particularly genetics of early onset epileptic encephalopathies and genotype/phenotype correlations. Dr. Olson is funded through a career development award for clinical research from the National Institute of Neurological Disorders and Stroke (NINDS).
Tom Otis, Ph.D.
Tom is the Chief Scientific Officer at the Sainsbury Wellcome Centre for Neural Circuits and Behaviour and holds a Professorship in Neuroscience at University College London. Tom received his B.S. and M.Sc. degrees in Biological Sciences in 1988 and his Ph.D. degree in Neuroscience in 1993, all from Stanford University. Prior to SWC/UCL, he led a team of 45 scientists conducting early-stage drug development in neurodevelopmental disorders and psychiatry at Hoffman La Roche Pharmaceutical Company. Before Roche, he served as the Edith Agnes Plumb Chair of the Department of Neurobiology at the University of California, Los Angeles. His research has focused on cellular and circuit function of the cerebellum and hippocampus, as well as preclinical models of spinocerebellar ataxia and amyotrophic lateral sclerosis.
Scott Demarest, MD
Scott Demarest, MD is the Co-Medical Director of the new Neurogenetic Multidisciplinary Clinic at Children’s Hospital of Colorado in Aurora and Assistant Professor of Pediatric Neurology at University of Colorado School of Medicine. He believes in a collaborative approach to management of epilepsy and neurogenetic conditions.
Dr. Demarest graduated from The University of Texas School of Medicine at San Antonio and completed his residency at the Children’s National Medical Center/George Washington University Program before a 2015 Fellowship brought him to Children’s Hospital Colorado. His research focuses on the characterization of clinical features, clinical trial design for disease modifying treatments and the development of novel precision therapies for epilepsy and neurogenetic conditions.
Stephan Sanders, PhD
Stephan Sanders is a Professor of Paediatric Neurogenetics in the Department of Paediatrics at the University of Oxford and a member of faculty at the University of California, San Francisco (UCSF). He trained as a paediatrician before undertaking a PhD and Postdoctoral studies in Genetics at Yale University. In 2014, he started his lab at the University of California, San Francisco (UCSF) before moving to Oxford in 2022. His group specialises in the genetics of neurodevelopmental disorders, including genomics, functional genomics, and therapeutics. Dr. Sanders is a leader of the Autism Sequencing Consortium, the BrainVar Project, and a SFARI autism sex-bias project. He was awarded the Theodore Reich Young Investigator Award by the International Society of Psychiatric Genetics (ISPG) in 2019 and a NARSAD Young Investigator Award by the Brain and Behavior Research Foundation in 2015.
Alfred L. George, Jr., M.D.
Dr. George is the Alfred Newton Richards Professor and Chair of the Department of Pharmacology, and Director of the Center for Pharmacogenomics at the Northwestern University Feinberg School of Medicine. He has more than 30 years of experience investigating the structure, function, molecular genetics and pharmacology of human ion channels. As an internationally regarded leader in the field of channelopathies, Dr. George’s research represents a unique blend of human molecular genetics, ion channel biology and pharmacology. He directs the NINDS-funded Channelopathy-associated Epilepsy Research Center without Walls.
Work in his laboratory strives to elucidate the molecular and cellular mechanisms responsible for early-life epilepsy and related developmental neurological disorders associated with SCN2A. Dr. George works closely with FamileSCN2A.
Eloise Austin, MD
Eloise Austin, MD is an Infectious Diseases specialist affiliated with Columbia University and lives in New York City with her husband Justin Muzinich and her two children, William and Isabelle. Dr. Austin graduated from the Yale University School of Medicine and completed training in Internal Medicine and Infectious Diseases at Columbia University Irving Medical Center, where she also served on the faculty, teaching medical students and residents. William was born in 2013, diagnosed with an autism spectrum disorder early in life and found to have a SCN2A mutation through genetic testing at age 7. Despite language delays and other challenges, William has made big strides over the past few years and is a great enthusiast for marine animals, NYC architecture, and music. Eloise is passionate about advancing research and development of SCN2A-related therapies, and she is thrilled to work with the FamilieSCN2A community to support its work.