This event has been postponed. A new calendar invite will be sent once a new date has been confirmed.
We will discuss the idea of allele-specific ASO treatment for gain-of-function SCN2A-encephalopathy. Discussion will include a patient case history with a strong gain-of-function variant, for whom an allele-specific ASO has been developed. Discussion will include benefits/risks of an N of 1 approach when a non-allele specific ASO is available via clinical trial.
Dr. Olson is a member of the faculty in the Department of Neurology, Division of Epilepsy and Clinical Neurophysiology at Boston Children’s Hospital (BCCH). 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.