Our Team

Staff

Mary Anne was a founding member of DSF, stepping off of the Board to take the position of Executive Director in 2012. She is a passionate advocate for the Dravet syndrome community and has served in various capacities for the community prior to the inception of DSF in 2009. In addition to her role at DSF she currently serves on several epilepsy working groups, including the Epilepsy Leadership Council, as well as several other advisory panels.

She has owned and managed several small businesses with an emphasis on project management in the private sector for over 25 years. This business experience has translated well into her role as Executive Director. She is responsible for the overall organizational development and staff management and has continued to expand programming and fund development for DSF.

Mary Anne resides in North Carolina with her husband and the youngest of her three children, Elliot, who has Dravet syndrome. It is her son who drives her to be a catalyst for change within the Dravet syndrome community.

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Veronica joined DSF in 2020. She has an MS in Biology from East Tennessee State University and a PhD in Cell, Stem Cell, and Developmental Biology from the University of Colorado. She spent 10 years in laboratory settings researching how small changes in genetic and molecular regulation contribute to complex neurological diseases. In 2007, Veronica had a son, Gabriel, who faced severe developmental challenges. Gabriel presented with initial seizure activity within his first two months of life, and his medical needs quickly became quite complex. Despite endless testing, a diagnosis remained elusive, and at the age of 8, Gabriel passed away. These experiences fueled Veronica’s passion to advance medical research and shaped her desire to support other families facing similar challenges. She hopes to apply her scientific knowledge and her understanding of the caregiver experience to support the Dravet community by facilitating Dravet-focused research and acting as a liaison between researchers, professionals, and families.

Veronica currently lives in Tennessee. She enjoys spending time with her partner Scott and their pets and being outdoors in her free time.

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jamie-cohen

Jamie holds a B.S. in accounting from Rutgers University and is a licensed certified public accountant. She has 7 years of experience in public accounting and over 10 years experience in nonprofit accounting. She currently serves as the accountant and Program Director for Dravet Syndrome Foundation. When not working, she enjoys volunteering her time, running, and being with her family. She and her husband Jason have three children, including a daughter who has a SCN1A-related seizure disorder.

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Misty resides in South Carolina, with her husband Ben and their two children, Braxton and Allie. In 2009 her son, Braxton, was diagnosed with Dravet syndrome at just 15 months old. With very little information given to them by their neurologist, they immediately went online in search of other parents to help educate and guide them in the right direction. After meeting with one of the founders of DSF, Misty knew that one day she would become part of the “Fight for a Cure”.

Soon after, her journey to raise funds for the foundation took off! Between 2010 and 2016 she hosted five events raising over $100,000.00. Her events have included Steps Toward a Cure walks, a golf tournament, a 5K and a Burn-a-thon. Her mission in life is to spread awareness about Dravet syndrome, mentor parents of newly diagnosed children and help raise funds for patient assistance and research. Misty joined the DSF staff as their Campaign Director in late 2016.

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Jenny was born and raised in a small town in Morris County NJ where she lives with her daughter Lena who has Dravet syndrome and Autism and her partner Dennis.  At 8/12 months old, Lena had her first tonic-clonic (grand mal) seizure which lasted 20-25 minutes which was not brought on by fever. Lena continued to suffer many more tonic-clonic seizures as well as developing absence and myoclonic jerks leading to genetic testing. The testing would reveal a mutation in the SCN1A gene arriving at a diagnosis of Dravet syndrome in 2009 at the age of 2. 


Jenny has her BA in Psychology from the College of Saint Elizabeth and previously worked as a Behavior Health Counselor, Administrative Assistant and a Network Project Program Manager in a telecom company. She is Co-President of the PTO at her daughter’s school, a member of the Family Leaders for Perform Care of NJ, a member of The Regional Family Support Planning Council #1, and a POAC Autism Services member.

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Erin Reoyo is the newest member to our DSF Team, joining early in 2021 as an online support group moderator. Erin and her husband Leo live outside of Seattle, WA, and are parents to Eloise and Leonel. Erin began fundraising for DSF soon after her Leonel’s Dravet syndrome diagnosis in 2016. She has been a volunteer Parent Ambassador for the West region with the DSF Family Network since 2017 and helped bring Day of Dravet to Seattle in 2018. Erin is an active PTA member as a Special Education Representative at her children’s elementary school. She earned her M.A. in Communication Sciences and Disorders from Western Washington University and although she is on a continued leave of absence, she began her career as a speech-language pathologist in both the school and pediatric clinic settings.

The Reoyo Family enjoys various outdoor activities and traveling within the Pacific Northwest, cheering for the Seattle Sounders, Seahawks, and (soon!) Kraken. Erin is an avid reader (via audiobooks) and has recently started exploring alcohol ink painting for creative expression.

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Board of Directors

Kate’s daughter Morgan was diagnosed with Dravet syndrome at only 6 months old. Although they received an early diagnosis, Morgan was medically fragile for the first 2 years of life; suffering frequent seizures and related medical complications. Her family turned to organizations like the Dravet Syndrome Foundation for guidance and support. The outreach and leadership of the organization inspired Kate to get involved in advocacy work.

She joined Compassionate Care NY in 2013, a group raising awareness for patients using or in need of medicinal cannabis in New York state. She currently volunteers as State Director. 
Prior to this, Kate spent 10 years in the wedding gown industry focusing on production and logistics for companies such as Pronovias, Priscilla of Boston, Reem Acra, and Marchesa. She graduated from the Chicago Academy for the Arts, a performing arts high school, and is passionate about supporting young artists. She lives Westchester County, NY and enjoys exploring the Husdon Valley with her husband and Morgan.

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Ted lives in Bannockburn, Illinois with his wife Pat. They have three adult children. They have three granddaughters, and their 2nd, Anna. was diagnosed with Dravet syndrome in 2018. Ted has been in leadership roles at both large and small companies in the pharmaceutical industry over the last 40 years. Dr.Ted earned his Ph.D. from University of Minnesota, and a B.S. and M.S. from the University of Missouri. When Anna was diagnosed, her parents and extended family turned to the DSF for information and support. Ted and his family believe strongly in the foundation’s mission, and have devoted their efforts to fundraising. Their fundraising site is at www.annaanddsf.org. Ted as a board member wants to apply his experience and know-how to help further the goals of the foundation to the benefit of all Dravet patients and families.

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Ross lives in Atlanta, GA with his wife Polly and their three children Millie, Finn, and Henry – who has Dravet syndrome.

Henry was diagnosed in March 2008. He had his first seizure at 3 months, lasting over an hour.  By his second birthday, Henry had spent over 70 days in the hospital: often in pediatric intensive care after prolonged seizures. Henry was so little, and Ross and his family had no idea how to help. Fortunately, the family was able to connect with a wonderful group of parents, doctors, and other caregivers to work together and treat the symptoms of the disease.

Every rare disease needs a champion and DSF is a great one. It is because Ross has benefitted from the past efforts that he feels honored to serve where he can.

Ross is a business consultant, and he applies this broad set of business, operational, and personal experiences to his role on the board.

Ross describes his life as messy and full. In his free time, he enjoys chasing his children, squeezing in a workout, run, or a round of golf when he can.

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tim-wood-webTim lives in Marin County, Northern California, with his wife Ashley, their son Owen and twin daughters, Mimi and Piper – who has Dravet syndrome.

Soon after Piper’s first prolonged tonic clonic seizure on December 31, 2006 at 8 months old, genetic testing confirmed a SCN1A mutation. Soon after Piper’s diagnosis, Tim found strength and purpose advocating for Dravet syndrome. His work with DSF is driven by a belief that all those affected by Dravet syndrome may benefit from improved awareness and continuously improving best practices.

Tim is inspired by the collective work of DSF’s Scientific and Medical Advisory Boards, staff workers, volunteers, fundraisers, donors along with his fellow board members and their efforts leading towards life changing research and advancements for Dravet.

When not spending time with his family, Tim enjoys mountain biking, trail running, tennis, skiing and painting.

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jenny-t

Jenny lives in Menomonee Falls, Wisconsin, with her husband, son and daughter. Jenny is the mother of three children, a stay-at-home mom, a student, and a volunteer at the local children’s hospital. Jenny’s oldest daughter Maddie, was diagnosed with Dravet syndrome in 2008 and lost her battle with the syndrome when she died in June of 2010, at the age of 2 ½.

Jenny joined the board in 2012 and her focus as a board member is now offering support to parents and family members who have lost a child due to Dravet syndrome. She began her schooling through the University of Wisconsin Milwaukee, working to obtain her license to become a grief counselor. Jenny also works with the bereavement coordinator at the Children’s Hospital of Wisconsin campus. Jenny takes what she has learned on her grief journey to help other bereaved parents. She believes that no parent should have to grieve alone.

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Ashley resides in Westlake, Louisiana with her three children, Michael, age 9, and Samuel, age 6, and Katie, age 1.

Ashley’s daughter, Katie was diagnosed with Dravet Syndrome at six months old. The Dravet Syndrome Foundation and community is a source of strength and comfort to her. She is proud to be part of an organization that will work tirelessly at making the world a better place for our children. Ashley currently serves on the committee for the Double-Down fundraiser in Houston, Texas.

Ashley Kerns is Vice President of her family’s business, Mike Hooks, LLC.  The company is among the largest dredging contractors in the country. Ashley received her Bachelor of Science Degree in Civil Engineering from Louisiana Tech University in 1999. She also obtained a Masters Degree in Business Administration from McNeese State University in 2002.

Ashley is an active member of several professional organizations. She has served on the Board of the Dredging Contractors of America (DCA) since 2011. In 2014, Ashley was elected President of that organization and served a second term as President in 2016. Ashley is the first female President of DCA and the first President to serve consecutive terms.  Ashley was also selected to serve on the Board for the Western Dredging Association in 2016.

Ashley enjoys serving in various community organizations. Ashley was the President of the Parent Teacher Organization and a School Board Member at her sons’ school from 2017 to 2018. Ashley has also held various positions on other local community organizations. She served as Vice President of Finance/Treasurer for several years for the Junior League of Lake Charles and was awarded “Active of the Year” in 2014. She also served as a Board Member for the Literacy Council of Southwest Louisiana for many years and chaired the fundraising committee.

In her free time, Ashley enjoys running, mountain biking, hiking, and traveling.

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Joseph Sullivan is an Associate Professor of Neurology & Pediatrics and Director of the UCSF Pediatric Epilepsy Center. As a clinician, Dr. Sullivan sees patients on both the outpatient and inpatient setting and has specific interests in epilepsy surgery as well as genetic epilepsies such as Dravet syndrome and PCDH19 Girls Clustering Epilepsy.

His research has focused on EEG and clinical phenotyping of these pediatric epilepsies and he was a member of the EPGP EEG core. His recent projects include a collaboration sponsored by DSF using a Delphi process to look at Diagnosis and Treatment Consensus in Dravet Syndrome as well as the principal investigator at UCSF for the Epilepsy Genetics Initiative.

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Those who serve on our Board of Directors do so on a voluntary basis, without compensation. We appreciate each of them sharing their gifts and talents with the organization. If you are interested in serving on our Board, please view this page for additional information.

Medical Advisory Board

DSF’s Medical Advisory Board (MAB) is comprised of recognized authorities in the clinical treatment of Dravet syndrome. They have devoted their time and medical expertise to improving the lives of those afflicted with Dravet syndrome and associated epilepsies. Their role is to provide strategic advice and counsel to support the mission of DSF. The MAB offers input on clinical trials that impact the Dravet community; serve as a representative link between DSF and the medical community; and update the best practices for the North American Dravet Syndrome Treatment Consensus.

Dr. Laux is an Attending Physician in the Neurology and Epilepsy Center of the Ann & Robert H. Lurie Children’s Hospital, as well as an Assistant Professor of Pediatrics at Northwestern University Feinberg School of Medicine. She received her medical degree from Saint Louis University School of Medicine and has been in practice for more than 20 years. Her special interests include pediatric epilepsy and Dravet syndrome.

 

Dr. Andrade is a Professor of Medicine (Neurology) at the University of Toronto. She is the Medical Director of the Epilepsy Program of University Health Network, University of Toronto, and the founder and Director of Krembil Neuroscience Adult Epilepsy Genetics Program, where she studies the causes and long-term outcomes of pediatric-onset epilepsies. Dr. Andrade is also the Director of the Epilepsy Transition Program, a program in collaboration with The Hospital for Sick Children that helps promote coordinated, smooth and efficient transition from the pediatric to the adult health systems for patients with intractable epilepsy. She was the chair of the epilepsy implementation task force sub-group for the development of Guidelines for Transition in Epilepsy for the Province of Ontario.

Dr. Andrade graduated in Medicine at Universidade Federal do Parana (Brazil) and completed her Neurology Residency at Hospital N.S. Gracas (Brazil). She then completed a Masters of Sciences at The Hospital for Sick Children, University of Toronto, Canada, studying “Protein Therapy for Unverricht-Lundborg Progressive Myoclonus Epilepsy”. In 2006 Dr. Andrade completed an Epilepsy and Clinical Electrophysiology Fellowship at Toronto Western Hospital, University of Toronto.

Kelly Knupp is an Associate Professor of Pediatrics and Neurology at the University of Colorado. She received her medical degree from the University of New Mexico – School of Medicine, completed her residency in Pediatrics at Children’s Hospital of New York followed by Pediatric Neurology Residency at Columbia University at Children’s Hospital of New York. After her residency, she trained as a Clinical Fellow in Pediatric Epilepsy at the Columbia Comprehensive Epilepsy Center at New York Presbyterian Hospital.

Dr. Knupp now practices at Children’s Hospital Colorado in Aurora, CO. and is the Associate Research Director of Neuroscience Institute and Director of the Dravet Program. Her interests are epileptic encephalopathies including Dravet Syndrome and infantile spasms. She was a founding member of the Pediatric Epilepsy Research Consortium and continues on the steering committee. This group focuses on developing collaborative research across the country for children with epileptic encephalopathies. She also serves on the medical advisory boards of the Epilepsy Foundation of Colorado, Roundup River Ranch, and DSF.

Dr. Koh is the chief of the UNMC Division of Pediatric Neurology. She currently serves as the director of pediatric epilepsy research at Emory University in Atlanta. Dr. Koh is board certified in neurology with a special qualification in child neurology, clinical neurophysiology and epilepsy. Dr. Koh earned her PhD in neurobiology from the University of Rochester in New York.

Dr. Perry is the Medical Director of Neurology and the Genetic Epilepsy Clinic at the Jane and John Justin Neurosciences Center of Cook Children’s Medical Center, Fort Worth, TX. He completed his MD at the University of Mississippi School of Medicine and general pediatrics and child neurology training at Emory University. He completed a Clinical Neurophysiology fellowship at Miami Children’s Hospital before joining Cook Children’s in 2009. His clinical and research interests include the use of epilepsy surgery for the treatment of intractable childhood epilepsy and the evaluation and treatment of genetic epilepsy syndromes.

Laureate Professor Ingrid Scheffer’s work has resulted in major paradigm shifts in epilepsy syndromology and classification over many years. Her work has formed the essential basis for successful gene discovery such that her larger collaborative group has been the leaders in epilepsy gene identification for 18 years since they discovered the first gene associated with epilepsy. This body of work has resulted in insights into the biology of seizures.

Professor Scheffer is Chair of Paediatric Neurology at The University of Melbourne and Senior Principal Research Fellow at the Florey Institute of Neuroscience and Mental Health. Professor Scheffer currently leads the Australian Academy of Health and Medical Sciences as its President.

Ingrid and her colleagues have described a range of novel epilepsy syndromes beginning in infancy, childhood and adult life.  Her work has meant that children and adults with sodium channel disorders such as Dravet syndrome and related epilepsies are diagnosed earlier and treated appropriately which improves their long term outcomes. Her recent work on a fascinating disorder occurring exclusively in females, Epilepsy limited to Females with Mental Retardation, is changing the way family histories are interpreted and will benefit affected women and transmitting men by improving genetic counseling. She has considerably expanded our understanding of the spectrum of epilepsies associated with glucose transporter deficiency; this body of work carries major treatment implications as this disorder responds to the ketogenic diet. Her work is important as it has changed our concepts of the underlying neurobiology of genetic epilepsies.

In 2012, Professor Scheffer was awarded the L’Oréal-UNESCO Laureate for Women in Science for the Asia-Pacific Region, and travelled to Paris to receive the award. In the past Prof Scheffer has received the 2007 American Epilepsy Society Research Recognition Award and the 2009 Eric Susman Prize from the Royal Australasian College Of Physicians.  She has served the International League Against Epilepsy in many capacities  and held the Chair of the ILAE Commission for Classification and Terminology from 2009 until 2013. The ILAE presented her with the Ambassador for Epilepsy award in 2013 and in the same year, she received the Emil Becker Award for an outstanding contribution to child neurology, the Australian Neuroscience Medallion and the prestigious national prize, the GlaxoSmithKline Award for Research Excellence. In 2014, she was elected a fellow of the Australian Academy of Science and an Officer of the Order of Australia (AO) in the Queen’s Birthday Honours List, for distinguished service to medicine in the field of paediatric neurology as a clinician, academic and mentor, and to research into the identification of epilepsy syndromes and genes. Professor Scheffer was awarded the Prime Minister’s Prize for Science together with Professor Samuel Berkovic in 2014. In 2018, Ingrid was elected a Fellow of the Royal Society. ​

In 2019, she was elected President of the Australian Academy of Health and Medical Sciences, following her term as its founding Vice President. She recently completed a six year term sitting on the National Health and Medical Research Council.

Professor Scheffer is Director of Paediatrics at Austin Health, Co-Director of its Epilepsy Research Centre and her private practice is located at the Victorian Children’s Clinic.

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Dr. Joseph Sullivan, is an Associate Professor of Neurology & Pediatrics and Director of the UCSF Pediatric Epilepsy Center, where he specializes in the evaluation and treatment of children with epilepsy, in particular the treatment of refractory epilepsy that does not respond to medications. He also has a specialized Dravet/PCDH19 clinic, where he follows a large cohort of children with these types of genetic epilepsy.

Sullivan is a member of the Pediatric Epilepsy Consortium, which brings together pediatric epilepsy centers across the United States to collaborate on various studies in pediatric epilepsy. Sullivan has been involved in research using functional magnetic resonance imaging (fMRI) to identify areas in the brain that control language in children with epilepsy. He is a member of the DSF Medical Advisory Board, as well as the DSF Board of Directors.

Prior to joining UCSF Benioff Children’s Hospital in 2007, Sullivan completed residencies in pediatrics at Children’s Memorial Hospital at Northwestern University where he spent an additional year as chief resident. He then completed his child neurology, clinical neurophysiology and epilepsy training at Children’s Hospital of Philadelphia.

elaine-wirrell-mdDr. Elaine Wirrell is the director of pediatric epilepsy and professor of neurology at the Mayo Clinic in Rochester, Minnesota. She completed medical school at the University of British Columbia and her pediatric neurology training at Dalhousie University in Halifax, Nova Scotia.

She is the co-chair of the Nosology and Status Epilepticus Task Force and a member of the Psychiatric Issues in Pediatric Epilepsy Task Force of the International League Against Epilepsy. She is also the chair the Pediatric Content Committee at the American Epilepsy Society and a member of the Medical Advisory Board for DSF.

Dr. Wirrell’s main research interests are in early onset, medically intractable epilepsies, and epileptic encephalopathies.

Scientific Advisory Board

Dravet Syndrome Foundation’s Scientific Advisory Board (SAB) oversees the organization’s research activities. They review and approve all research grant applications and meet annually with other interested researchers and scientists to discuss innovative and promising research in the field of Dravet syndrome and associated epilepsies at DSF’s Research Roundtable.

Jack M. Parent, MD, is a professor of neurology, director of the Neurodevelopment and Regeneration Laboratory, and co-director of the Comprehensive Epilepsy Center in the University of Michigan Medical School.

His current research interests include neural stem cell transplantation to treat brain injury and neurodegeneration, and the modification of adult neural stem cells to promote brain repair after stroke or prevent epilepsy.

Dr. Parent earned a Bachelor of Arts degree, with distinction, in human biology from Stanford University and his medical degree from the Yale University School of Medicine. He completed a medical internship and neurology residency at the University of California, San Francisco (UCSF), where he was selected chief resident. He stayed at UCSF for clinical fellowship training in epilepsy and clinical neurophysiology, and postdoctoral training in neuroscience research.

An internationally recognized research leader in the fields of neural stem cell biology, regeneration after brain injury and epilepsy, Dr. Parent established the Neurodevelopment and Regeneration Laboratory at the University of Michigan in 2000.

Dr. Parent is a member of the Epilepsy Foundation of America Research Council, the Medical Advisory Board of the Global Ischemia Foundation, the Independent Science Review Panel of the New Jersey Commission on Brain Injury Research, and the National Scientific Advisory Council of the American Federation for Aging Research. He also serves as an associate editor of Neuroscience Letters, and is on the editorial boards of Experimental Neurology and Epilepsy Currents.

He has received several awards for his research, including a Junior Investigator Award from the American Epilepsy Society, a Paul Beeson Physician Faculty Scholars in Aging Award, a Dreifuss-Penry Epilepsy Award from the American Academy of Neurology, and a Grass Foundation Award in Neuroscience from the American Neurological Association.

Dr. Isom is the Maurice H. Seevers Professor and Chair of the Department of Pharmacology, Professor of Molecular and Integrative Physiology, and Professor of Neurology at the University of Michigan Medical School. Prior to becoming Chair of Pharmacology she served as Director of the Program in Biomedical Sciences and Assistant Dean for Graduate Education in the University of Michigan Medical School. She received her PhD in Pharmacology at Vanderbilt University School of Medicine and then trained as a postdoctoral fellow in the laboratory of Dr. William A. Catterall at the University of Washington. Dr. Isom’s postdoctoral research included the first cloning, sequencing, and expression of voltage-gated sodium channel SCN1B and SCN2B, encoding b1 and b2 subunits, respectively.

Dr. Isom’s laboratory employs a variety of techniques, including cellular and molecular biology, genetics, and electrophysiology. Highlights of Dr. Isom’s research program include the discovery that sodium channel b subunits, in addition to functioning as ion channel modulators, are multi-functional cell adhesion molecules of the immunoglobulin superfamily that regulate neuronal migration, pathfinding, and fasciculation. She reported the first mutation in SCN1B linked to Dravet syndrome and collaborates with Dr. Jack Parent and Dr. Miriam Meisler to investigate SCN1A, SCN1B, and SCN8A epileptic encephalopathy mutations in mouse models and human induced pluripotent stem cell (iPSC) neurons and cardiac myocytes.

Her research has focused on the physiology and pharmacology of voltage-gated sodium channels and the role of sodium channel mutations in epilepsy, cardiac arrhythmia, and demyelinating disease. She has played a critical role in using translational research to model and find treatment for a rare form of infantile epilepsy known as Dravet syndrome (DS) that increases risk for Sudden Unexpected Death in Epilepsy (SUDEP). The syndrome has been linked to loss of function mutations in the SCN1A gene that causes an improper folding of NaV1.1 channels in GABAergic interneurons. Decreased excitation of GABA interneurons can lead to neuronal hyper-excitability and seizures as well as cardiac arrhythmias. Dr. Isom’s lab has published over 90 articles and received $22 million in funding to investigate genetic links between neuronal excitability and epileptic encephalopathy.

In addition to her research activities, Dr. Isom serves as PI of an NIH funded T32 grant, co-chairs the Dravet Syndrome Foundation Scientific Advisory Board with Dr. Parent, serves on NIH grant study sections and editorial boards of scientific journals, and has received awards for research and mentoring, including a recent NINDS Javits R37 MERIT award and the University of Michigan Rackham Distinguished Graduate Mentoring Award. In 2011, she was elected a Fellow of the American Association for the Advancement of Science for her work in Neuroscience and Graduate Education.

Scott C. Baraban, PhD is a Professor of Neurological Surgery and William K. Bowes Jr. Endowed Chair in Neuroscience Research at the University of California, San Francisco. Dr. Baraban’s lab studies the cellular and molecular basis of epilepsy, specifically catastrophic epilepsies of childhood. While some seizures can be controlled with available medications, a large number of pediatric epilepsy patients are medically intractable. Combining pharmacology, genetics, electrophysiology, cell transplantation, and unique zebrafish models of genetic epilepsies they are identifying new treatments for these patients.  The first zebrafish models for epilepsy were developed in the Baraban lab over 15 years ago and recent drug screening efforts in a zebrafish model for DS have led to new therapeutic candidates. Publications from the Baraban laboratory (>100) have appeared in Science, Nature Neuroscience, Nature Communications, Journal of Neuroscience, Proceedings of the National Academy of Sciences, and Neuron.

Dr. Baraban is the recipient of awards from the Esther and Joseph Klingenstein Fund, the Sandler Family Supporting Foundation, the UCSF Innovation in Basic Science Award, a EUREKA grant and Javits Neuroscience Award from the NIH. In 2016, he received the Basic Science Research Recognition Award from the American Epilepsy Society. He was co-Chair (with Jack Parent) of the 2014 Gordon Research Conference on epilepsy and Scientific Program Committee Chair for the 2015 AES meeting. He serves on the Scientific Advisory Board of the Dravet Syndrome Foundation, the Gruppo Famiglie Dravet association (Italy) and as a regular member of CNNT study section at NIH.

Dennis J. Dlugos, MD, MSCE, is a professor of neurology and pediatrics at Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania School of Medicine. He is Director of the Section of Clinical Neurophysiology and the Epilepsy/Clinical Neurophysiology Fellowship. He holds the Catherine D. Brown Endowed Chair in Pediatric Epilepsy.

Dr. Dlugos obtained his medical degree at Columbia University College of Physician and Surgeons in 1988, and a Master of Science Degree in Clinical Epidemiology (MSCE) from the Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine in 2002.  He completed an internship in Pediatrics at the National Naval Medical Center in Bethesda, Maryland, in 1989, and served as an Undersea Medical Officer in the U.S. Navy from 1989 to 1993.  He then completed a residency in Pediatrics at Thomas Jefferson University and Alfred I. duPont Institute in Philadelphia, Pennsylvania, and Wilmington, Delaware.  Dr. Dlugos then completed a residency in Neurology/Child Neurology and a fellowship in Epilepsy and Clinical Neurophysiology at the University of Pennsylvania Medical Center and The Children’s Hospital of Philadelphia.

Dr. Dlugos is board certified in Neurology with special qualifications in Child Neurology, Pediatrics, Clinical Neurophysiology, and Clinical Neurophysiology with special qualifications in Epilepsy Monitoring. Dr. Dlugos is a co-investigator on NIH grants involving epilepsy genetics, pharmacogenetics, and epilepsy surgery.  Dr. Dlugos is course director of Brain and Behavior, a 9-week Clinical Neuroscience course in the University of Pennsylvania School of Medicine curriculum.

Dr. Dlugos is a member of the American Academy of Pediatrics, the American Academy of Neurology, the American Epilepsy Society, the American Clinical Neurophysiology Society, and the Child Neurology Society. Dr. Dlugos is a frequent lecturer locally and at national medical meetings on topics related to pediatric neurology, epilepsy, and electroencephalograms.  He has published papers in journals such as Neurology, Epilepsia, Archives of Neurology, Pediatric Neurology, and Journal of Child Neurology.

Ethan Goldberg, MD, PhD, is a pediatric neurologist in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP) and Director of the Epilepsy NeuroGenetics Initiative (ENGIN). He sees patients in the Neurogenetics Clinic at CHOP.

Dr. Goldberg specializes in the diagnosis and care of children with neurodevelopmental disorders including epilepsy, developmental delay/intellectual disability, and autism spectrum disorder. He has a particular interest in the genetic basis of these disorders, and has specific expertise in evaluating and caring for children with Dravet syndrome and other epilepsies due to ion channelopathy such as KCNC1, SCN2A, SCN3A, and SCN8A-related epilepsies.

“I am interested in how alterations in the building blocks of brain function lead to large-scale brain dysfunction such as is seen in these disorders, and in the development of new treatments and potentially cures for such conditions,” he says.

Along with his work at CHOP, Dr. Goldberg is an Assistant Professor in the Departments of Neurology and Neuroscience at the Perelman School of Medicine at the University of Pennsylvania.

Dr. Goldberg’s research focuses on the mechanisms of these neurodevelopmental disorders. He notes that advances in neurogenetics — the study of the role of genetics in the development and function of the nervous system — have drastically improved diagnoses. Advances in brain science hold promise for innovative new treatments, he says.

“Modern 21st-century neuroscience techniques such as stem cell technology, large-scale electrical recordings, optogenetics, novel imaging techniques, and computational neuroscience approaches allow us to dream of new ways to use genetic information to develop specific therapies,” he says. Learn more about Dr. Goldberg’s research in the Goldberg NeuroLab.

Jennifer Kearney, PhD, associate professor of Pharmacology, focuses her research on studying the genetic modifiers that influence the clinical severity of epilepsy. She received her Ph.D. in Neuroscience from The University of Michigan in 1997. She remained at The University of Michigan for postdoctoral training in Genetics and joined the faculty in 2002 as a Research Investigator in Human Genetics. In 2007, she moved to Vanderbilt University to join the Division of Genetic Medicine and the Institute for Integrative Genomics. In July of 2014, Dr. Kearney joined the Department of Pharmacology at Northwestern University Feinberg School of Medicine.

Since joining Northwestern Medicine, she described a new mutation linked to severe childhood epilepsy in a paper published in the Oct. 2014 issue of Annals of Neurology. Her team found an anomaly in a potassium channel gene that causes neurons to misfire, which can lead to seizures and disrupted development. Her research program is focused on studying the genetic basis of epilepsy and epileptic encephalopathies. Isolation of epilepsy genes will help us understand the underlying pathophysiology and suggest novel therapeutic strategies for improved treatment of patients. Her lab uses classical genetic approaches to identify modifier genes in mouse models and then investigates whether the same genes contribute to epilepsy risk in human patients. One of their current projects is focused on identifying genetic modifiers of Dravet syndrome, a severe epileptic encephalopathy in which patients have intractable epilepsy accompanied by intellectual disability and autistic features. They developed a mouse model of Dravet syndrome that exhibits variable phenotype severity depending on the genetic background. Identifying genetic modifiers and understanding how they contribute to disease development and progression may suggest novel, genome-guided therapeutic strategies. The ultimate goal of her research is to translate our genetic knowledge toward precision medicine in epilepsy and improve patient outcomes.

 

Dr. Mefford is a physician scientist with training in pediatrics and human genetics. She works for the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital, and has a research laboratory devoted to the discovery of novel genetic and genomic causes of pediatric disease.

A major focus of her group’s work is to identify genetic causes of pediatric epilepsy. Using state-of-the-art technology, including next-generation sequencing, the group has recently identified numerous new epilepsy genes. She has also been involved in the discovery and characterization of several new genomic disorders — conditions caused by small deletions or duplications (copy number changes) of DNA. Examples include deletions of chromosomes 1q21, 15q13, and 17q12, each of which causes a range of clinical features. She is continuing to investigate individuals with these conditions to better understand the variable outcomes.

Using the same technologies, her research group works to discover new genes and copy number changes that underlie a variety of pediatric conditions. Examples include neurocognitive disorders such as autism and intellectual disability and congenital abnormalities including craniosynostosis and kidney defects. Mefford’s clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with neurocognitive defects of unknown etiology.

Dr. Meisler is the Myron Levine Distinguished University Professor, Professor of Human Genetics and Professor of Neurology at the University of Michigan Medical School. She earned her PhD at The Ohio State University in Physiological Chemistry and carried out postdoctoral training funded by a NSF Postdoctoral Fellowship at the Roswell Park Cancer Institute.

For the past 25 years, Dr. Meisler’s lab has focused on the role of sodium channel mutations in epilepsy, studying human genetic disorders and mouse models that are relevant to human health. The lab most recently identified VAC14, a cause of pediatric neurological decline.

Dr. Meisler served as the first president of the International Mammalian Genome Society, a Fellow of the American Association for the Advancement of Science, and a Senior Fellow in the Michigan Society of Fellows. She received an Eleanor Roosevelt Cancer Fellowship, and from the University of Michigan the Distinguished Faculty Achievement Award, Myron Levine Distinguished University Professorship in Human Genetics, Sarah Goddard Power Award, and Distinguished Faculty Lectureship Award. She has also served on the AES Scientific Program Committee, the External Advisory Board of the Center for Molecular Genetics at Wayne State University, the American Society of Human Genetics Program Committee, and the Scientific Advisory Board of the Dravet Syndrome Foundation.

Sarah Weckhuysen MD, PhD is an Assistant Professor at the University of Antwerp in Belgium with interest in both clinical epilepsy and genetic research. As a neurologist she worked in several tertiary epilepsy centers, including the Epilepsy Center Kempenhaeghe in the Netherlands, the Hôpital Pitié Salpêtrière in Paris, France, and currently the University Hospital of Antwerp in Belgium. She obtained a PhD on the topic of genetics of epileptic encephalopathies under the mentorship of Prof. P. De Jonghe, who discovered de novo SCN1A mutations as the genetic cause of Dravet Syndrome back in 2001. Since 2018 Sarah is heading the epilepsy research team of the Applied & Translational Neurogenomics group at the VIB-Center for Molecular Neurology in Antwerp. The primary focus of her research group is the identification of novel genes and genetic mechanisms implicated in epilepsy, using state-of-the-art multi-omics approaches. The developmental and epileptic encephalopathies are of specific interest to her group, as she strongly believes that the study of the underlying genetic mechanisms can be the entry point for the development of more potent, targeted therapies. Her lab therefore uses patient derived induced pluripotent stem cells as a tool to translate the genetic work of her group into biological understanding and better treatments for people with epilepsy. Over the years, her work contributed to many novel epilepsy gene discoveries and disease characterizations.

Family Network Ambassadors

Family Network Ambassadors work to support our community by facilitating opportunities for engagement, support, and advocacy. Learn more about the DSF Family Network here.

Director Emeriti

Abby Hemani is a mother of three and full-time attorney. She graduated from Yale University and Harvard Law School, and she currently works as an in-house litigator at Fidelity Investments in Boston. Prior to her work for Fidelity, she clerked for two federal appeals court judges and was a member of the law firm Goodwin Procter LLP. When not working, Ms. Hemani enjoys spending time with her husband, Micah, her seven-year-old twins, Jonah and Norah, and her younger son, Nathaniel. Abby’s daughter, Norah, was diagnosed with Dravet syndrome in 2009, at eleven-months old, and Abby immediately became involved in fundraising for DSF. She joined the board in 2012 and has served as both board President and Vice President.Abby Hemani is a mother of three and full-time attorney. She graduated from Yale University and Harvard Law School, and she currently works as an in-house litigator at Fidelity Investments in Boston. Prior to her work for Fidelity, she clerked for two federal appeals court judges and was a member of the law firm Goodwin Procter LLP. When not working, Ms. Hemani enjoys spending time with her husband, Micah, her seven-year-old twins, Jonah and Norah, and her younger son, Nathaniel. Abby’s daughter, Norah, was diagnosed with Dravet syndrome in 2009, at eleven-months old, and Abby immediately became involved in fundraising for DSF. She first joined the board in 2012 and has served as both Board President and Vice President, prior to being named a Director Emeritus.

Amanda is a mom to three beautiful girls and wife to an incredibly supportive guy. The family of five lives in Connecticut. Her oldest daughter, Molly, has an unnamed syndrome that is closely associated with Dravet syndrome. Amanda has been with DSF since its inception in 2009, originally serving as a board member and then as the Executive Assistant to assist in day-to-day tasks. Upon leaving her staff position, she was appointed a Director Emeritus by the DSF Board of Directors to thank her for her many years of service to the Dravet syndrome community.

Before DSF came into her life, Amanda was a middle school music teacher and holds a Master’s degree in education. Now, in her spare time, she teaches and assists in the local adaptive arts dance and theater program and is an active member of her Church community, teaching Sunday school and singing in the choir.

Our Partners

Dravet Syndrome Foundation recognizes that by opening lines of communication, connecting scientists, and forming partnerships with doctors, researchers, and patient organizations, we can assure rapid distribution of information and avoid duplication of efforts. DSF chooses to partner with like-minded organizations who share our priorities of finding better treatments and a cure, and who share our integrity and values. Through these meaningful collaborations we can have a much greater impact than working alone. DSF welcomes partnerships with other organizations who wish to contribute and participate in projects that are in-line with their mission and which appeal to their supporters. The quickest way to a cure for a rare disease such as Dravet syndrome is through global collaboration.

Advocacy organizations, medical partners, industry or other parties interested in partnering with DSF should email Mary Anne.