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ASO treatment for SCN2A-encephalopathy, allele-specific vs non-specific

September 11, 2023 12:30-1:30 pm US EST -

We will discuss the idea of ASO treatment for gain-of-function SCN2A-encephalopathy, including benefits/risks of an allele specific compared to non-allele specific approach.

Heather Olson, MD, MS is a member of the faculty in the Department of Neurology, Division of Epilepsy and Clinical Neurophysiology at Boston Children’s Hospital (BCH). She is an academic pediatric neurologist focusing on Epilepsy Genetics and Fetal/Neonatal neurology. She directs the CDKL5 Center of Excellence, a multidisciplinary clinic and clinical research program, at BCH. Her work includes clinical care, training of residents and fellows, and clinical research. Her patients and families have inspired her through their strength and perseverance. They motivate her to achieve better understanding of their children’s diseases and to contribute to development of better treatments.

She has a Master of Science Degree in Epidemiology with a concentration in Genetics, providing formal training in clinical research methods. Dr. Olson has also led international collaborations to define genotype-phenotype correlations such as in Ohtahara syndrome and defined novel neurogenetic disorders such as PACS2- and GABRB2-related disorders. Dr. Olson was involved in early phenotypic and genotypic descriptions of SCN2A encephalopathy (PMIDs: 26291284, 28133863), and she has collaborated with basic researchers for functional analysis of variants from her clinical cohort at BCH (Theodore Cummins, Albert George). She is on the medical advisory board for FamilieSCN2A.

She completed a K23 career development award from the NINDS, on the topic of neonatal epilepsy genetics and CDKL5 Deficiency Disorder, and has a 1 year supplement to this award through 3/2024. Her research including comparing CDKL5 Deficiency Disorder (CDD) to other early life genetic epilepsies, genotype-phenotype correlations in CDD, and response of epileptic spasms to first line medications in CDD compared to controls from the National Infantile Spasms Consortium. Much of her work and that of her research team is collaborative with the other Centers of Excellence and the International CDKL5 Disorder Database through the International CDKL5 Clinical Research Network. Together we have published initial data from our Centers of Excellence (Epilepsia 2019, PMID: 31313283), developed a disease specific severity assessment (Pediatric Neurology 2019, PMID: 31147226), performed content validation of clinician measures (PMID 34378447), proposed diagnostic criteria (PMID 31313283), defined the ophthalmologic phenotype (PMID 34028805), and demonstrated poor response to first-line treatments for epileptic spasms in CDD (Epilepsia, in press). She co-authored a review in Lancet Neurology, led a review of treatment for CNS drugs, published our own treatment experience in CDD (PMID: 34530725) and co-authored the key manuscript for the clinical trial for ganaxolone which is now the first approved treatment for CDD (PMID: 35429480). She also recently published on medical impact of genetic testing in epilepsy (PMID 36403551). She is site Principal Investigator for a U01 grant for clinical trial readiness in CDKL5 Deficiency Disorder and site Principal Investigator for clinical trials for CDKL5 Deficiency Disorder and other genetic Developmental and epileptic encephalopathies. She has a team or coordinators, fellows and genetic counselors, and she collaborates closely with basic and translational scientists in the Kirby Neurobiology program at BCH to advance translational work in CDD.

She received the Adelyn Stroup award and visiting lectureship in Pediatric Epilepsy from the Division of Pediatric Neurology at Johns Hopkins as a rising star in the field in 2018. She also received the Eleanor and Miles Shore faculty development award through Harvard Medical School in 2018.

Her career path balances clinical care, teaching, and patient-oriented research as well as collaboration with basic scientists to develop multidisciplinary translational research efforts.

Elizabeth Berry-Kravis MD, PhD is a Professor of Pediatrics and Neurological Sciences at Rush

University Medical Center in Chicago. She established the Fragile X Clinic and Research

Program in 1991, through which she has provided care to over 800 patients with fragile X

syndrome (FXS). She has studied medical issues, epilepsy and psychopharmacology in FXS,

and has been a leader in translational research in FXS for 20 years, including development of

clinical outcome measures and biomarkers, natural history studies, newborn screening, and

particularly clinical trials of new targeted treatments in FXS, for which she has been PI or Co-PI

of 27 trials, both industry and investigator sponsored. Her laboratory studies the cellular role of

fragile X mental retardation protein (FMRP), relationship between FMRP and clinical function,

and optimization of genetic testing methods. More recently she has expanded clinical and

translational work to other neurodevelopmental disorders in addition to FXS, including autism

spectrum disorders and single gene models of ASD, including Phelan McDermid syndrome,

Rett syndrome, and Angelman syndrome. She also is working on translational research in rare

neurogenetic disorders including Niemann-Pick type C, Battens disease, pantothenate kinase-

associated neurodegeneration, and creatine transporter deficiency. She is on Advisory and/or

Review Boards for the FRAXA Research Foundation, National Fragile X Foundation, Phelan

McDermid Syndrome Foundation, International Rett Syndrome Foundation, Angelman

Syndrome Foundation, Foundation for Angelman Syndrome Therapeutics, Combined Brain,

N=1 Collaborative, n-Lorem Foundation and the GATHER Foundation. She has received the

NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, NFXF William and Enid Rosen

Research Award, March of Dimes Jonas Salk Research Award, American Academy of

Neurology Sidney Carter Award in Child Neurology, John Merck Fund Sparkplug Award, the

FRAXA Ingenuity Award, the FAST Innovation Award, and the inaugural Martha Bridge Denckla

Award from the Child Neurology Society for work in cognitive disorders of children.



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