The Association for Creatine Deficiencies hosted the 2020 Cerebral Creatine Deficiency Syndromes (CCDS) Virtual Conference on August 7th and 8th, as well as a keynote talk on August 2nd. The goal of this meeting was to share the latest CCDS research and to broaden our research network. Talks covered a variety of topics such as natural history data, computational analysis of mutations, structural insights, as well as new directions for treatments, including gene therapy.
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Virtual Conference 2020
August 7, 2020 - August 8, 2020
FreeSpeakers
Recordings are linked below the speaker’s name.
Not all talks were recorded.
*Due to technical difficulties, some recordings are incomplete.
Laura Trutoiu, Ph.D.
ACD, Director of Research
It is our great pleasure to welcome you to the CCDS 2020 Virtual Conference. As a parent-led organization, our responsibility is to support the widest range possible of relevant research efforts in the scientific community, including biotech, and industry, in order to maximize our chances of getting treatments. This virtual meeting is featuring 20 speakers covering the latest research on cerebral creatine deficiencies. As part of this welcome talk, we will share some of the ACD initiatives and success stories from the past year. Thank you for being part of our community!
Sangeetha Iyer, Ph.D.
ACD, Scientific Advisor
Dr. Sangeetha Iyer received her PhD in Molecular Pharmacology from the University of Pittsburgh and went on to complete her postdoctoral research at the University of Texas at Austin. She has over ten years of experience in model/assay development and drug screening for human disorders. Dr. Iyer is currently employed at Denali Therapeutics Inc, where she and her team develop assays for early as well as late stage therapeutic programs headed to the clinic. She works across multiple therapeutic modalities such as gene therapy, large molecules as well as small molecule drug candidates. Prior to Denali Therapeutics, Dr. Iyer was employed at Perlara PBC, a drug discovery company in San Francisco committed to finding therapeutics for rare genetic diseases. During her time there, she specialized in all aspects of the therapeutic discovery process- creating tools to study a specific disease, conducting drug discovery screens and identifying biomarkers for a successful transition to clinic. In her role, she also interacted with parents and foundations and laid the foundation for PerlQuests- a patient-driven personalized drug discovery program. With the assistance of clinical KOL’s and parent advocates, she was involved in generating a roadmap for an n=1 trial for phosphomannomutase 2 deficiency that is currently underway. Since 2020, Dr. Iyer has been working with the Association of Creatine Deficiencies as their scientific consultant to refine their scientific research roadmap. She brings her expertise in working with rare disease patient groups, clinical KOL’s and scientific discovery processes to her role with the ACD.
Ethan Perlstein, Ph.D.
Perlara
Ethan Perlstein received a Ph.D. in 2006 from Harvard University (Department of Molecular and Cell Biology) while working in the laboratory of Professor Stuart Schreiber. He completed an independent postdoctoral fellowship at the Lewis-Sigler Institute at Princeton University from 2007 to 2012. Since its founding in 2014, he is CEO of Perlara PBC, the first biotech PBC that partners with highly motivated families to cure rare genetic diseases. In 2019, he joined the Christopher & Dana Reeve Foundation as their first Chief Scientific Officer, but due to unexpected COVID-related financial constraints, his team was let go in Spring 2020. Recently, he became CEO of a new nonprofit, co-founded by Dr. Tim Yu and Julia Vitarello, whose mission is to make personal programmable medicines accessible to everyone.
Sylvia Stockler, MD, and Peter Axerio-Cilies, Ph.D.
BC Children’s Hospital & Department of Pediatrics UBC;
Djavad Mowafaghian Centre for Brain Health, UBC
Dr. Stockler is a Professor of Pediatrics at the Department of Pediatrics (UBC) and head of the Division for Biochemical Genetics at BC Children’s Hospital. She authored the first description of GAMT and AGAT deficiency and has published several articles on cerebral creatine deficiency syndromes. Her research focuses on the diagnosis and treatment of genetic conditions causing intellectual disability as well as on the evaluation of outcomes of treatment outcomes using innovative trial methodologies and outcome measures. Dr. Stockler has recently started a collaboration with Dr. Axerio-Cilies from the Department of Medicine and Psychiatry at the Djavad Mowafaghian Centre for Brain Health (UBC) with the aim to develop and evaluate new treatments for creatine transporter (SLC6A8) deficiency. He has extensive experience in generating lead drug prototypes for various protein targets associated with neurological disorders and rare genetic diseases (including solute carrier transporters), which have led to numerous successful patents and publications.
Aloïse MABONDZO, PhD, HDR
CERES BRAIN THERAPEUTICS
Dr. Aloïse Mabondzo joined the CEA, the Life Science Division, in May of 1998 as the leader of a neurovascular pharmacology Lab with a strong focus on in vitro blood-brain barrier (BBB) modeling and pathophysiology of the brain. His Lab has developed fully characterized in vitro screening tools allowing the optimization of the molecules under development for brain penetration. His innovative research has made possible the development of research programs in the neuroscience field: Alzheimer’s disease, nanotoxicology, ischemic hypoxia encephalopathy, X-linked creatine transporter deficiency disease. Dr. Aloïse Mabondzo is author or co-author of 59 articles in peer-reviewed journals, six patents, gave lectures as a lecturer and as well as guest speaker, poster presentation in the scientific congress, and he often reviews articles for scientific journals. He has directed twelve Ph.D. students, and six postdoctoral positions have been part of his team. As a Neuroscientist, Dr. Mabondzo aims to bridge the gap between experimental research and clinical therapy for cerebral diseases. He is a co-founder of CERES BRAIN THERAPEUTICS, a spin-off from the French alternative energies and Atomic Energy Commission (CEA), committed to focusing its resources to the preclinical development of advance drug over coming years in order to provide CTD patients with a therapeutic solution to deliver creatine in the brain.
Dr. Lee M. Graves, Ph.D.
University of North Carolina
Dr. Lee Graves is a Professor in the Department of Pharmacology at the University of North Carolina at Chapel Hill. He is currently the Faculty Director of the UNC Michael Hooker Proteomics Facility at UNC. His laboratory applies proteomics to study the biological mechanisms of disease as well as the pharmacological responses to targeted therapeutics. Over the last 25 years, his lab has focused on cellular adaptations to protein kinase inhibitors in cancer biology and other diseases. Recently his research has combined these studies with metabolomics analyses to gain a deeper understanding of mechanisms of acquired drug resistance. He has served on the Editorial Board of multiple journals (JBC, Mol Pharm, BBA-GEN), been a co-founder of two companies (KinoDyn, ViroKyn), and has trained multiple graduate students and post-doctoral fellows.
Fady Hannah-Shmouni, MD, FRCPC
NIH
Fady Hannah-Shmouni, M.D., DABIM, AHSCP, FRCPC, is a clinician investigator in endocrinology, hypertension, and biochemical genetics with clinical and research interests in the diagnosis and management of familial endocrinopathies, endocrine hypertension disorders, and inborn metabolism errors. For NICHD, he serves as director of the Office of Education’s Graduate Medical Education (GME); chief of the internal medicine, endocrinology, and genetics inpatient ward and outpatient endocrinology; associate program director of NIH’s Inter-Institutes Endocrinology & Metabolism Fellowship Program; and principal investigator of endocrine genetic and hypertension disorders for the Stratakis Laboratory’s section on endocrinology and genetics. He is the principal investigator on two NICHD protocols: “Clinical and Molecular Characteristics of Primary Aldosteronism in Blacks” and “Observational Study of Males with Creatine Transporter Deficiency.”
Matthew R. Skelton, Ph.D.
Cincinnati Children’s Research Foundation
Dr. Skelton received his Ph.D. in Molecular and Developmental Biology from the University of Cincinnati in 2006. His graduate work focused on the effects of prenatal MDMA exposure on learning and memory in rats. As a post-doctoral fellow at CCRF, Dr. Skelton characterized the first Slc6a8 knockout model. Dr. Skelton joined the CCRF faculty in 2011 where his lab focuses on the biological underpinnings of the cognitive deficits caused by CTD. He has over 50 publications (12 related to creatine) and has received funding from the NIH, pharmaceutical companies, and private foundations. He has routinely served as a reviewer for academic journals and grant review committees. Dr. Skelton has proudly served on the ACD SMAB since its inception and is even prouder to be the first recipient of an ACD grant in 2018.
Gai Ayalon, Ph.D.
Ultragenyx Pharmaceutical Inc.
Gai Ayalon, Ph.D., is a neuroscientist and a Senior Director at Ultragenyx Pharmaceutical Inc., a Bay Area, California company dedicated to developing therapeutics for rare and ultra-rare diseases. He is currently leading teams dedicated to developing treatments for neurodevelopmental disorders. Previously, Dr. Ayalon was a scientist at Genentech, where he led drug discovery programs focused on immunotherapeutic approaches to neurodegenerative diseases. Dr. Ayalon received his Ph.D. from the Hebrew University Medical School in Jerusalem, Israel, and conducted his postdoctoral research at Duke University Medical Center.
Jonathan Schlebach, Ph.D.
Indiana University, Bloomington
Jonathan received a BS in Biochemistry from the University of Illinois at Urbana-Champaign in 2007 after which he began his graduate studies at Purdue University in the laboratory of Chiwook Park. In 2012 he received a PhD for his studies on the kinetics and thermodynamics of integral membrane protein folding. Jonathan went on to pursue postdoctoral training in the laboratory of Charles R. Sanders at the Vanderbilt University School of Medicine, where he was awarded a Ruth L. Kirschstein National Research Service Award from the NIH for his studies of integral membrane protein misfolding and disease.
His current studies involve the physiochemical coupling between the folding and trafficking of integral membrane proteins in the cell. His laboratory utilizes an interdisciplinary array of biophysical, analytical, and cellular techniques to gain mechanistic insights into the key reactions that modulate the cellular proteostasis of integral membrane proteins and ultimately give rise to the molecular basis of disease. His group is also interested in adapting these tools and perspectives to address emerging issues in precision medicine.
Lara Gechijian, Ph.D.
Senior Scientist, Jnana Therapeutics
Lara Gechijian received her Ph.D. in Biomedical and Biological Sciences with a concentration in Therapeutics from Harvard Medical School in 2018. She conducted her graduate research in the labs of Dr. Jay Bradner and Dr. Nathanael Gray, where she focused on targeted degradation as an approach to developing novel cancer therapeutics. Lara is currently a biochemist at Jnana Therapeutics, a biotechnology company dedicated to developing new medicines for metabolic diseases.
Laura Baroncelli, Ph.D.
Neuroscience Institute CNR Pisa
Dr. Baroncelli graduated in Biology from the University of Pisa in 2005 and trained in the PhD program in Neurobiology at the Scuola Normale Superiore from 2006 to 2009. Following a fellowship at Scuola Normale Superiore, she was awarded in 2010 a two-year post-doctoral fellowship at the Accademia Nazionale dei Lincei, in Italy. Since 2011, she is Tenured Researcher at the Neuroscience Institute (IN) of CNR in Pisa. Recently, she was awarded a six-month travel grant within the program “Post-Doctoral Fellowship- 2017” of Fondazione Umberto Veronesi for a training period with two-photon microscopy at the University Medical Center of Göttingen. Her scientific production was highly fruitful leading to the publication of 36 original research papers in international peer-reviewed journals (H index: 18). She was awarded personal fundings by Fondazione Roma, LUMOS Pharma, Italian Ministry of Health, Lejeune Foundation and Telethon for the study of creatine-related disorders. She is also Academic Editor of Neural Plasticity and Scientific Report, and reviewer for various international journals and national agencies.
Prof. Olivier Braissant, Ph.D.
Service of Clinical Chemistry, University Hospital of Lausanne, Switzerland
Working on cerebral creatine for many years, I contributed to the understanding of how creatine can be transported from periphery to the central nervous system, as well as how creatine can be synthesized and transported within the brain. Our work also contributed to better understand creatine metabolism and transport in the brain under AGAT, GAMT, and SLC6A8 deficiencies (CCDS). We are currently developing and working on several in vitro and in vivo models of CCDS, including a new knock-in rat model of creatine transporter deficiency which I will present at the CCDS 2020 Virtual Conference.
Jagdeep S. Walia, MD, FRCPC, FCCMG
Queen’s University
Dr. Jagdeep Walia is a full-time faculty, Head of the Division of Medical Genetics, and Director of research in the Department of Pediatrics at Queen’s University. He is an Associate Professor and a Medical Geneticist. Dr. Walia is a graduate of the Guru Nanak Dev University School of Medicine. He did his post-doctoral fellowship at the University of Toronto and Medical Genetics training at the University of Manitoba. He joined the Department in 2012 and also started a research program in 2013. His work in Medical Genetics includes consultation on a broad range of genetic problems in children and adults including Cancer, Prenatal, Metabolics, and General Genetics. He teaches undergraduate students and residents in genetics.
He has an active clinical and basic genetics research program. His lab is focused on developing novel gene therapy approaches for inherited and acquired neurodegenerative disorders especially focusing on GM2-gangliosidoses and Creatine Deficiency disorders.
Ameya Kasture, Ph.D
University of Vienna, Vienna, Austria
Ameya Kasture is a postdoctoral researcher at the University of Vienna, Vienna, Austria. His research examines the use of pharmacological compounds to remedy protein misfolding. He primarily focuses on a group of proteins called solute carrier 6 (SLC6) transporters, which include transporters for creatine, amino acids, biogenic amines, and osmolytes. Mutations in the genes encoding the SLC6 transporters are linked to various diseases. In the case of creatine transporter, the disease-causing mutations retain the transporter in the endoplasmic reticulum, thereby affecting its surface availability. Pharmacological approaches can be used to restore the surface availability of at least some of the disease-causing mutations. Additionally, he uses Drosophila melanogaster as a model organism to understand dopamine and serotonin neurotransmission. He also teaches undergraduate and graduate students at the Department of Neuroscience and Developmental Biology, University of Vienna. He completed an MSc in Molecular Neuroscience at the University of Bristol, UK, and a Ph.D. in Cell Communication in Health and Disease at the Medical University of Vienna, Austria.
Dr. Claire Colas, Ph.D.
University of Vienna
Claire Colas is a postdoctoral scientist in the Pharmacoinformatics research group (University of Vienna). She completed her Ph.D. in 2011 at the Pasteur Institute in Paris, France, and worked for two years as a postdoctoral scientist at the Institut de Chimie des Substances Naturelles at Gif-sur-Yvette, France. Since 2013, Dr. Colas’ research has been focused on the structural characterization of Solute Carrier (SLC) transporters. First at the Mount Sinai School of Medicine in New-York City (2013-2018) and then in Vienna (2018-present), Dr. Colas has been working on distinct SLC families, involved in various diseases and disorders.
Dr. Colas uses various computational methods such as homology modeling and molecular docking to explore the structural determinants defining the substrate specificities of SLCs.
Prof. Emil Alexov, Ph.D.
Clemson University
Emil Alexov is a professor at Clemson University, SC, USA. He is affiliated with the Departments of Physics and Astronomy, Material Sciences, and the School of Nursing HealthCare Genetics. His research is focused on understanding the molecular effects caused by human DNA variants associated with diseases and developing treatments to eliminate these effects. Of particular interest are monogenic diseases and X-linked disorders. He also develops methods to predict the pathogenicity of mutations and their effect on the thermodynamic properties of macromolecules and their assemblages.
Axel Neu, MD
Department of Pediatrics, UKE, Hamburg, Germany
Axel Neu is a child neurologist at the university hospital Hamburg Eppendorf. His main interests are ion channel disorders and disorders of creatine metabolism. His research group Experimental Neuropediatrics works on the functional consequences of creatine deficiency in transgenic mouse models.
Nicola Longo, MD, Ph.D.
University of Utah
Dr. Nicola Longo received his M.D. and Ph.D. in molecular biology and pathology from the University of Parma, School of Medicine in Italy. He then trained in Pediatrics, Medical and Biochemical Genetics at Emory University in Atlanta, Georgia, USA. Currently, Dr. Longo is Professor of Pediatrics and Adjunct Professor of Pathology, Nutrition and Integrative Physiology at the University of Utah in Salt Lake City, UT. He is also Chief of the Division of Medical Genetics, Director of the Metabolic Service in the Department of Pediatrics, Director of the Training Program in Medical Biochemical Genetics and Medical co-Director of the Biochemical Genetics Lab at ARUP Laboratories in Salt Lake City. His research concerns the molecular bases of metabolic disorders, their natural history, and their identification through newborn screening.
He has a long-standing interest in membrane transporters for which he has worked on amino acid, glucose, carnitine and creatine transporters. He follows several patients with brain creatine deficiency and has an active interest in developing new methods to facilitate their detection by newborn screening, improving existing therapies and developing new ones for these conditions.
