Our first-ever KCNH1 patient/professional conference on January 14th, 2023 was a tremendous success! We had a world-class line-up of dedicated doctors, researchers, and patient advocates, and it was amazing to see so many people come together from all over the world to help our kids. We recruited numerous new scientist and families, and were able to get over 100 people from 14 different countries to attend! Many of the researchers were offering to share models and collaborate on projects, and we couldn't be more excited about the results that this increased collaboration and engagement will bring. Looking forward to building on this momentum throughout 2023!!
If you missed out on this milestone event, you can access the recording of the full conference here, or watch individual presentations by clicking on the hyperlinks below. Please note that two of the presentations were not recorded due to the sharing of pre-published research.
KCNH1 Family and Scientific Summit 2023 Agenda
(All times PST)
Session 1, Background and Clinical Picture
8:00 Intro, Cure KCNH1 Foundation Progress Update - Michaelle Jinnette, MA, LMFT
8:15 Path to Clinical Trials - Wendy Chung, MD, PhD
8:30 Laying the Foundation: Genetics 101 for KCNH1 - Stephanie Telesca, MS, CGC
8:45 Clinical Presentation of KCNH1-Related Disorders - Tracy Gertler, MD, PhD
Session 2, Current Research Projects
9:00 Family Stories
9:10 KCNH1 Treatment Roadmap - Ethan Perlstein, PhD
9:25 Open Questions After 30 Years of Research on KCNH1 - Luis Pardo, MD, PhD
9:40 High Throughput Functional Evaluation of KCNH1 Variants - Al George, MD
Session 3, Future Directions
10:00 Family Stories
10:10 KCNH1 in Human Pathogenesis - Viviana Caputo, PhD
10:25 Mouse Models for KCNH1 - Jennifer Kearney, PhD
10:35 Patient Data, Natural History, and Endpoints - Terry Jo Bichell, PhD, MPH
10:50-11 Closing Remarks - Effie Parks
11-12, Researcher Roundtable Discussion, Moderated by Al George
Terry Jo Bichell, PhD, MPH
Terry Jo Bichell worked as a documentary filmmaker in the early days of videotape, then became a public health nurse-midwife after filming a difficult birth in West Africa. When her youngest child, Lou, was diagnosed with Angelman syndrome, she switched from midwifery to clinical research on Angelman syndrome. Eventually, she went back to school to earn a PhD in neuroscience from Vanderbilt University in an effort to find treatments for her son. Along the way, she studied gene-environment interactions in Huntington disease as well as circadian aspects of Angelman syndrome and was a columnist for HDBuzz. After graduating, she was the Founding Director of the Angelman Biomarkers and Outcome Measures Alliance until 2018. Dr. Bichell founded a new non-profit in 2019, COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders), to assist other rare and ultra-rare neurogenetic disorders with clinical trial preparations.
Viviana Caputo, PhD
Dr. Caputo is a biologist with a PhD in Medical Genetics. Currently, she is an associate professor of Medical Genetics at the Department of Experimental Medicine at Sapienza University of Rome. As a human molecular geneticist, in the last ten years she has been studying the molecular bases of human rare genetic diseases. Her work focuses on the use of both in silico and in vitro approaches to discover new genes implicated in human diseases and to characterize the pathogenic mechanisms underlying rare disorders. She has performed several studies to identify pathogenic variants through Next Generation Sequencing approaches and to define altered molecular and cell mechanisms in cell models. In 2015, she contributed to identifying KCNH1 as the gene causing a neurodevelopmental phenotype and since, has been studying cell processes that are perturbed by the KCNH1 pathogenic
Wendy Chung, MD, PhD
Dr. Wendy Chung is an ABMG board-certified clinical and molecular geneticist with 20 years of experience in human genetic research of monogenic and complex traits. She has extensive experience mapping and cloning genes in humans, and describing the clinical characteristics and natural history of novel genetic conditions and characterizing the spectrum of disease, and developing tailored care and treatments for rare genetic diseases. Dr. Chung leads the Precision Medicine Resource in the Irving Institute at Columbia University. She has authored over 300 peer-reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, the New York Academy Medal for Distinguished Contributions in Biomedical Science, and the Rare Impact Award from the National Organization of Rare Disorders. Dr. Chung is renowned for her teaching and mentoring and received Columbia University's highest teaching award, the Presidential Award for Outstanding Teaching. She led the pilot newborn screening study of spinal muscular atrophy in NY which helped lead to the nationwide adoption of this test in newborns. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and served on the Institute of Medicine Committee on Genetic Testing. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost-effective manner. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from Rockefeller University in genetics.
Alfred George, MD
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 been a pioneer in elucidating the genetics and pathogenesis of channelopathies with a focus on genetic disorders caused by voltage-gated ion channel mutations associated with disorders of membrane excitability including epilepsy. He currently directs the NINDS-funded Channelopathy-associated Epilepsy Research Center without Walls.
Tracy Gertler, MD, PhD
Dr. Gertler completed her undergraduate degree in molecular biology and neuroscience at Princeton University, her medical school degree at Northwestern University Feinberg school of medicine, her graduate degree studying neuromodulation in altered dopamingeric states in the basal ganglia at Northwestern University in the lab of Dr. D. James Surmeier, and her pediatrics/child neurology residency at Lurie Children's Hospital in Chicago. The goal of her basic science research is to understand the mechanisms by which genetic ion channel variants identified in patients with early-onset epilepsy translate to altered channel biophysics when isolated in an expression system, to abnormal intrinsic neuronal excitability when studied in patient-derived neurons (made from induced pluripotent stem cell lines), and to circuit-level disruption resulting in epileptogenesis in transgenic animal models. This three-pronged approach shares a common pathophysiologic protein, and is intended to identify new therapeutic targets by complementary ion channel, neuronal, and synaptic modulation.
Jennifer Kearney, PhD
Dr. Kearney 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. Her research program is focused on identifying genetic factors that contribute to childhood epilepsies and neurodevelopmental disorders. To understand how genetic variations contribute to the underlying pathophysiology, her laboratory develops and uses mouse models for genomic, transcriptomic, physiological, and pharmacological studies. The overarching goal is to translate this knowledge into better treatments for childhood epilepsy syndromes.
Luis Pardo, MD, PhD
Luis A. Pardo leads a research group on ion channels in cancer at the Max Planck Institute for Multidisciplinary Sciences in Göttingen, Germany. His group studies the biophysical properties of potassium channels and their roles in controlling crucial cellular functions such as proliferation or migration, with particular attention to those leading to malignant transformation and tumor progression. The main target of his research has been the channel encoded by KCNH1; he studies the properties and functions of this potassium channel in health and disease and looks for possible therapeutic interventions against excessive or extemporary functions of the channel. Luis Pardo graduated as MD from the University of Oviedo, Spain, where he also obtained his Ph.D. Since then, he has investigated ion channels at the same university and different Max-Planck Institutes in Germany.
Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings. After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks. When Effie learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world.
Ethan Perlstein, PhD
Ethan Perlstein is the founder and CEO of Perlara PBC, the first biotech Public Benefit Corporation, which is on a mission to accelerate the discovery of cures for rare genetic diseases. Ethan is also cofounder and CEO of Maggie's Pearl, a clinical-stage joint venture of Perlara and a rare disease family that is currently sponsoring a Phase 3 drug repurposing study at Mayo Clinic. Over the course of the last decade, first as a graduate student at Harvard University in the Department of Molecular and Cell Biology with PhD advisor Professor Stuart Schreiber and then as an independent postdoctoral fellow at the Lewis-Sigler Institute at Princeton University, Dr. Ethan Perlstein developed an approach to studying old drugs and discovering new drugs in model organisms called evolutionary pharmacology.
Stephanie Telesca, MS, CGC
Stephanie Telesca received her Masters of Human Genetics from Sarah Lawrence College in 2013 and is an American board certified genetic counselor. She has worked at Mount Sinai Hospital in Toronto, Canada since 2016. Since entering the field of genetic counseling, she has primarily focused on preconception and prenatal genetics. She is involved in the supervision of medical students, genetic counseling students, and fellows through the OBGYN department. Stephanie has a passion for advocating for her patients and supporting their own advocacy through didactic discussions regarding their medical care. In 2021 Stephanie's daughter was born and later diagnosed with an ultra-rare genetic condition, KCNC1-related disorder, and Stephanie subsequently started The KCNC1 Foundation. The foundation aims at supporting the development of treatments/a cure for all children impacted by KCNC1-related disorders through funding science.
We're always looking for support for our mission.