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DTSTART;TZID=America/Denver:20211022T130000
DTEND;TZID=America/Denver:20211022T140000
DTSTAMP:20260430T114704
CREATED:20211007T201128Z
LAST-MODIFIED:20220917T204957Z
UID:19800-1634907600-1634911200@creatineinfo.org
SUMMARY:FDA Webinar: The Clinical Trials Process
DESCRIPTION:Register today! The FDA is presenting an important webinar to the CCDS community Friday\, October 22nd\, from 3:00-4:00 EST. Dr. Sheila Farrell\, MD\, MPH from the FDA’s Center for Drug Evaluation and Research will discuss the clinical trials process. \nView the recording here.
URL:https://creatineinfo.org/event/fda-webinar-the-clinical-trials-process-2/
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20210910
DTEND;VALUE=DATE:20210912
DTSTAMP:20260430T114704
CREATED:20210413T124055Z
LAST-MODIFIED:20210908T162912Z
UID:18734-1631232000-1631404799@creatineinfo.org
SUMMARY:2021 CCDS Virtual Conference
DESCRIPTION:[vc_row][vc_column][vc_column_text]The 2021 CCDS Virtual Conference will be held virtually on September 10th and 11th\, 2021. The meeting will cover two days of scientific talks by international researchers and physicians from around the world. The meeting is hosted by the Association for Creatine Deficiencies (ACD). \nThe mission of the ACD is to advocate\, educate\, and promote research for patients and families coping with the effects of a creatine deficiency. Given our mission\, we believe it is imperative to hold open and collaborative scientific meetings and to unite knowledge of creatine deficiencies across the globe. \nEvent Details/Registration\n[/vc_column_text][/vc_column][/vc_row]
URL:https://creatineinfo.org/event/2021-ccds-virtual-conference-event/
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20210821
DTEND;VALUE=DATE:20210822
DTSTAMP:20260430T114704
CREATED:20210413T123918Z
LAST-MODIFIED:20220518T164428Z
UID:18732-1629504000-1629590399@creatineinfo.org
SUMMARY:Walk for Strength 2021
DESCRIPTION:Join us on Saturday\, August 21st\, 2021 for the ACD’s sixth annual Walk for Strength!\nClick here to register!
URL:https://creatineinfo.org/event/wfs-2021/
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Denver:20210714T080000
DTEND;TZID=America/Denver:20210722T170000
DTSTAMP:20260430T114704
CREATED:20210614T113521Z
LAST-MODIFIED:20210614T113521Z
UID:19123-1626249600-1626973200@creatineinfo.org
SUMMARY:Rare Disease Week
DESCRIPTION:Rare Disease Week is July 14-22. EveryLife Foundation invites you to attend virtually on Capitol Hill this year. By attending and participating in different events\, you will have the opportunity to meet and network with rare disease advocates from across the country and your own state\, share your rare disease story and meet with your Members of Congress and/or their staff\, and earn points for participating in Rare Disease Week. The top 50 point-earners from the week will win a grant from $1\,000 to $5\,000 each for their rare disease organization of choice\, totaling $100\,000 awarded by the EveryLife Foundation. \nTo see a detailed agenda and to register\, click here.
URL:https://creatineinfo.org/event/rare-disease-week/
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Denver:20210609T130000
DTEND;TZID=America/Denver:20210609T140000
DTSTAMP:20260430T114704
CREATED:20210608T140556Z
LAST-MODIFIED:20210608T184700Z
UID:19107-1623243600-1623247200@creatineinfo.org
SUMMARY:ACD ClinGen Webinar: How to Read Your Genetic Report
DESCRIPTION:Have you wondered about your child’s specific mutation of creatine deficiencies? Do you want to know what missense mutations are? \nJoin ACD and ClinGen on June 9th at 12 pm PT for a webinar for parents and caregivers to learn about:\n– How to read your genetic testing report\n– How to participate in the ClinGen Data Sharing Program\n– Your questions answered on a Live Q&A Session \nSpeakers: Juliann Savatt\, Clinical and Research Genetic Counselor at Geisinger\, Sofia Balog\, Patient Registry Coordinator at Association for Creatine Deficiencies. Moderator: Erin Coller\, Director of Communications for Creatine Deficiencies \nRegister Here
URL:https://creatineinfo.org/event/acd-clingen-webinar-how-to-read-your-genetic-report/
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20210604T120000
DTEND;TZID=America/Los_Angeles:20210604T130000
DTSTAMP:20260430T114704
CREATED:20210520T201528Z
LAST-MODIFIED:20210520T201528Z
UID:18979-1622808000-1622811600@creatineinfo.org
SUMMARY:ACD - ClinGen Webinar
DESCRIPTION:“How to read your genetic test report & ClinGen Data Sharing Program”\nSpeakers: Juliann Savatt\, Clinical and Research Genetic Counselor at Geisinger\, Laura Trutoiu\, Ph.D.\, Director of Research at Association for Creatine Deficiencies\, Sofia Balog\, Patient Registry Coordinator at Association for Creatine Deficiencies. \nHave you wondered about your child’s specific mutation of creatine deficiencies? Do you want to know what missense mutations are? Join ACD and ClinGen to learn about: \n\nHow to read your genetic testing report\n\n\nHow to participate in the ClinGen Data Sharing Program (CreatineInfo Registry)\n\nPart 1: \nHow to read your genetic test report \n\nIntroduction to chromosomes\, DNA\, and genes\nTypes of genetic changes (variants) –  missense\, frameshift\, nonsense\nTypes of genetic testing\nOther common terms on testing reports – autosomal dominant\, autosomal recessive\, de novo\, inherited\, mosaic\nExamples of how to read your genetic testing report\nQ&A\n\nPart 2:\nClinGen Data Sharing Program Opt-in \n\nBenefits of enrolling in data sharing as outlined in the CreatineInfo Registry consent form\nHow to enroll in the program\, if interested (Step by step)\nSharing your genetic report with ACD and with ClinGen \nQ&A
URL:https://creatineinfo.org/event/acd-clingen-webinar/
LOCATION:Zoom Webinar
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20210315
DTEND;VALUE=DATE:20210316
DTSTAMP:20260430T114704
CREATED:20210105T202506Z
LAST-MODIFIED:20210312T141458Z
UID:18437-1615766400-1615852799@creatineinfo.org
SUMMARY:CreatineInfo Registry Launch
DESCRIPTION:The ACD\, in partnership with NORD\, is launching a Natural History Study Patient-reported Registry on March 15th. Join the registry and help us further research for a better quality of life for those impacted by Creatine Deficiencies. Join at creatineinfo.iamrare.org.
URL:https://creatineinfo.org/event/creatineinfo-registry-launch/
CATEGORIES:Community Events
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Denver:20210228T080000
DTEND;TZID=America/Denver:20210228T233000
DTSTAMP:20260430T114704
CREATED:20210105T202256Z
LAST-MODIFIED:20210224T013623Z
UID:18434-1614499200-1614555000@creatineinfo.org
SUMMARY:Rare Disease Day 2021
DESCRIPTION:February 28th is Rare Diseases Day. This year\, we will raise awareness AND empower research!  Stay tuned for the launch of our CreatineInfo Registry. Together we will search for answers and help move research forward. \nTo learn more\, contact registry@creatineinfo.org or sign up for updates here: https://bit.ly/ACDpatientregistry.
URL:https://creatineinfo.org/event/rare-disease-day-2021/
CATEGORIES:Community Events
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20210201
DTEND;VALUE=DATE:20210202
DTSTAMP:20260430T114704
CREATED:20200906T035007Z
LAST-MODIFIED:20210105T202002Z
UID:17748-1612137600-1612223999@creatineinfo.org
SUMMARY:CCDS Day 2021
DESCRIPTION:  \nCCDS Day 2021 is February 1st. How has CCDS changed your story? If you’d like to participate in our #CCDSDay2021 Campaign\, send us a picture of your child/family and a quote answering this question. Email faith@creatineinfo.org.  \nPlease also sign and complete this release form\, giving us permission to share your picture and quote.
URL:https://creatineinfo.org/event/ccds-day-2021/
CATEGORIES:Community Events
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20201101
DTEND;VALUE=DATE:20210101
DTSTAMP:20260430T114704
CREATED:20200906T032144Z
LAST-MODIFIED:20201103T015207Z
UID:17743-1604188800-1609459199@creatineinfo.org
SUMMARY:Holiday Heroes Fundraiser
DESCRIPTION:Holiday Heroes is our annual fundraiser and this year we will be fundraising to support the continuation of Gene Therapy Advancement Awards in 2021 as well as drug development research. Visit our Holiday Heroes page to learn more and donate now! \nLearn more about the initiatives funded by the 2020 Holiday Heroes at ACD’s research strategy page and the Gene Therapy Consortium page.
URL:https://creatineinfo.org/event/hhf/
CATEGORIES:Community Events
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20200930
DTEND;VALUE=DATE:20201029
DTSTAMP:20260430T114704
CREATED:20200906T031207Z
LAST-MODIFIED:20200906T035806Z
UID:17739-1601424000-1603929599@creatineinfo.org
SUMMARY:Newborn Screening Bootcamp- EveryLife Foundation
DESCRIPTION:The EveryLife Foundation is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy. In this spirit\, EveryLife is hosting a weekly one hour “Newborn Screening Bootcamp” virtual event each Wednesday from September 30 – October 28. \nThis is a great opportunity to learn more about the newborn screening system and how we can work together to get GAMT added to all newborn screening panels universally. \nCheck out the weekly offerings and get registered here.
URL:https://creatineinfo.org/event/everylife-nbs-2020/
CATEGORIES:Exhibits & Workshops
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20200910
DTEND;VALUE=DATE:20200926
DTSTAMP:20260430T114704
CREATED:20200906T025806Z
LAST-MODIFIED:20200906T035829Z
UID:17737-1599696000-1601078399@creatineinfo.org
SUMMARY:Global Genes Virtual Summit
DESCRIPTION:Global Genes was founded to empower patients\, build communities\, and drive forward momentum for rare diseases globally. ACD attends this summit every fall and we are excited to invite our families to join in this year on this virtual platform. \nThis event is open to CCDS families interested in learning more about how we can advocate together for our three rare disorders. \n\nSeptember 10 is an orientation for those who have not attended before.\nSeptember 15-20 includes a variety of free sessions streamed live on Facebook.\nSeptember 21-25 requires registration at a cost of $25.\n\nCheck out the schedule and get registered here.
URL:https://creatineinfo.org/event/globalgenes-2020/
CATEGORIES:Exhibits & Workshops
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20200807
DTEND;VALUE=DATE:20200809
DTSTAMP:20260430T114704
CREATED:20200421T070437Z
LAST-MODIFIED:20221205T164350Z
UID:16630-1596758400-1596931199@creatineinfo.org
SUMMARY:Virtual Conference 2020
DESCRIPTION:[vc_row][vc_column][vc_column_text]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.[/vc_column_text][vc_separator border_width=”4″][/vc_column][/vc_row][vc_row][vc_column][vc_column_text] \nSpeakers\nRecordings are linked below the speaker’s name.\nNot all talks were recorded.\n*Due to technical difficulties\, some recordings are incomplete.\n[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”1/2″][vc_column_text]Laura Trutoiu\, Ph.D.\nACD\, Director of Research \nConference Talk Recording \nIt 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![/vc_column_text][/vc_column][vc_column width=”1/2″][vc_column_text]Sangeetha Iyer\, Ph.D.\nACD\, Scientific Advisor \nConference Talk Recording \nDr. 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.[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”1/2″][vc_column_text]Ethan Perlstein\, Ph.D.\nPerlara \nConference Talk Recording \nEthan 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.[/vc_column_text][/vc_column][vc_column width=”1/2″][vc_column_text]Sylvia Stockler\, MD\, and Peter Axerio-Cilies\, Ph.D.\nBC Children’s Hospital & Department of Pediatrics UBC;\nDjavad Mowafaghian Centre for Brain Health\, UBC \nDr. 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.[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”1/3″][vc_column_text]Aloïse MABONDZO\, PhD\, HDR\nCERES BRAIN THERAPEUTICS \nConference Talk Recording \nDr. 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.[/vc_column_text][vc_column_text][/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Dr. Lee M. Graves\, Ph.D.\nUniversity of North Carolina \nConference Talk Recording \nDr. 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.[/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Fady Hannah-Shmouni\, MD\, FRCPC\nNIH \nConference Talk Recording \nFady 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.”[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”1/3″][vc_column_text]Matthew R. Skelton\, Ph.D. \nCincinnati Children’s Research Foundation \nConference Talk Recording \nDr. 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.[/vc_column_text][vc_column_text][/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Gai Ayalon\, Ph.D.\nUltragenyx Pharmaceutical Inc. \nGai 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.[/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Jonathan Schlebach\, Ph.D. \nIndiana University\, Bloomington \nConference Talk Recording \nJonathan 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.\nHis 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.[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”1/3″][vc_column_text]Lara Gechijian\, Ph.D.\nSenior Scientist\, Jnana Therapeutics \nLara 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.[/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Laura Baroncelli\, Ph.D.\nNeuroscience Institute CNR Pisa \nConference Talk Recording \nDr. 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.[/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Prof. Olivier Braissant\, Ph.D.\nService of Clinical Chemistry\, University Hospital of Lausanne\, Switzerland \nConference Talk Recording \nWorking 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.[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”1/3″][vc_column_text]Jagdeep S. Walia\, MD\, FRCPC\, FCCMG\nQueen’s University \nConference Talk Recording \nDr. 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.\nHe 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.[/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Ameya Kasture\, Ph.D\nUniversity of Vienna\, Vienna\, Austria \nConference Talk Recording \nAmeya 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.[/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Dr. Claire Colas\, Ph.D.\nUniversity of Vienna \nConference Talk Recording \nClaire 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.\nDr. Colas uses various computational methods such as homology modeling and molecular docking to explore the structural determinants defining the substrate specificities of SLCs.[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”1/3″][vc_column_text]Prof. Emil Alexov\, Ph.D.\nClemson University \nConference Talk Recording \nEmil 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.[/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Axel Neu\, MD\nDepartment of Pediatrics\, UKE\, Hamburg\, Germany \nAxel 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.[/vc_column_text][/vc_column][vc_column width=”1/3″][vc_column_text]Nicola Longo\, MD\, Ph.D. \nUniversity of Utah \nConference Talk Recording \nDr. 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.\nHe 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.[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column][vc_row_inner][vc_column_inner][vc_separator border_width=”4″][/vc_column_inner][/vc_row_inner][/vc_column][vc_column][vc_single_image image=”17562″ img_size=”full” alignment=”center” onclick=”img_link_large”][vc_separator border_width=”4″][/vc_column][/vc_row][vc_row][vc_column][vc_btn title=”Full Conference Proceedings PDF” style=”classic” align=”center” link=”url:http%3A%2F%2Fcreatineinfo.org%2Fwp-content%2Fuploads%2F2020%2F04%2FFinal-Virtual-Conerence-Program.pdf|target:_blank”][/vc_column][/vc_row]
URL:https://creatineinfo.org/event/virtual-conference-2020/
CATEGORIES:Symposium
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20200802T140000
DTEND;TZID=America/Los_Angeles:20200802T150000
DTSTAMP:20260430T114704
CREATED:20200708T022854Z
LAST-MODIFIED:20200802T184812Z
UID:17089-1596376800-1596380400@creatineinfo.org
SUMMARY:Keynote Speaker - Dr. Judith Miller
DESCRIPTION:Keynote: Lessons Learned From 2 Years of the Vigilan Natural History Study\nDr. Judith Miller\, Ph.D.\, Children’s Hospital of Pennsylvania\nClick Here for the Direct Webinar Link\nDr. Judith Miller is a clinical psychologist with 25 years’ experience in developmental disorders. She has a joint appointment as Assistant Professor in both the Psychiatry and Pediatrics departments at the Children’s Hospital of Philadelphia (CHOP)\, which is affiliated with the Perelman School of Medicine at the University of Pennsylvania. She is also the Clinical Training Director at the Center for Autism Research\, and the Associate Director for the Leadership in Education in Neurodevelopmental Disorders (LEND) program at CHOP.  She has been studying Creatine Transporter Deficiency since 2015 and is the coordinating Principal Investigator for the Vigilan Observational Study. \nAbstract:\nThe Vigilan Observational Study of Creatine Transporter Deficiency is the largest and longest-running natural history study of a creatine deficiency syndrome. Our goals are to study how children with CTD develop over time and to identify the best measures for a future interventional study.  We now have nine sites across the US and Canada and are approaching our fourth year\, with almost 50 participants completing nearly 200 visits.  Children and families have been participating in extensive testing and medical evaluations every 6 months\, with an additional visit to the National Institutes of Health (NIH) in Washington DC for imaging and other biomarker studies.  While the study is still ongoing\, we now have sufficient data to examine how children with CTD develop over time\, including the earliest symptoms that led to a CTD diagnosis\, as well as the children’s cognitive and intellectual development\, self-help skills\, behavior\, and co-occurring medical conditions.  Dr. Miller will present the preliminary findings\, discuss what we’ve learned so far\, and outline how it will inform the next steps for the Vigilan study.
URL:https://creatineinfo.org/event/keynote-speaker/
CATEGORIES:Community Events
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20200802T130000
DTEND;TZID=America/Los_Angeles:20200802T140000
DTSTAMP:20260430T114704
CREATED:20200607T075042Z
LAST-MODIFIED:20200802T012513Z
UID:16733-1596373200-1596376800@creatineinfo.org
SUMMARY:Community Social Hour
DESCRIPTION:
URL:https://creatineinfo.org/event/community-social-hour/
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20200802
DTEND;VALUE=DATE:20200803
DTSTAMP:20260430T114704
CREATED:20190410T235516Z
LAST-MODIFIED:20200708T024413Z
UID:7111-1596326400-1596412799@creatineinfo.org
SUMMARY:Walk for Strength 2020
DESCRIPTION:[vc_row full_width=”stretch_row” css=”.vc_custom_1554925123026{background-color: #0d2947 !important;}”][vc_column][vc_column_text css=”.vc_custom_1590597617727{padding-top: 5px !important;padding-left: 10px !important;background-color: #062849 !important;border-radius: 5px !important;}”] \nSunday\, August 2nd\, 2020\n[/vc_column_text][vc_row_inner][vc_column_inner][vc_column_text] \nThis year we’re walking as one big team!\n[/vc_column_text][/vc_column_inner][/vc_row_inner][/vc_column][/vc_row][vc_row full_width=”stretch_row_content_no_spaces” content_placement=”middle” css=”.vc_custom_1523336611845{background-color: #ffffff !important;}”][vc_column css=”.vc_custom_1523072040122{background-color: #ffffff !important;}”][vc_single_image image=”16697″ img_size=”506×369″ alignment=”center” css_animation=”flipInY” css=”.vc_custom_1590598427909{background-color: #ffffff !important;}”][/vc_column][/vc_row][vc_row][vc_column width=”1/2″][vc_single_image image=”16747″ img_size=”medium”][/vc_column][vc_column width=”1/2″][vc_empty_space height=”150px”][vc_column_text]This year\, while respecting local health guidance\, CCDS families\, friends\, researchers\, and supporters worldwide will be walking in support of those affected by GAMT\, AGAT\, and CTD. Hold your family’s walk when and where it suits you and join us afterward at the Community Social Hour. #socialdistance #quarantine2020 #keepcalmandwalkon \n*Register by July 4 to receive a “Keep Calm & Walk On” walk shirt![/vc_column_text][/vc_column][/vc_row][vc_row][vc_column][vc_single_image image=”5036″ img_size=”1920×600″ alignment=”center”][/vc_column][/vc_row][vc_row full_width=”stretch_row” css=”.vc_custom_1516844439530{background-color: #f5f5f5 !important;}”][vc_column][vc_column_text] \nRegister to Walk or Support a Team\n[/vc_column_text][vc_row_inner][vc_column_inner width=”1/2″][vc_column_text] \nRegistration Details\nRegistration is $20 for adults and $15 for youth. \nRegistration includes a 2020 walk shirt if received by July 1st. After July 1st\, a shirt is not included with registration. \nAsk Friends and Family for Support\nIf you are unable to participate in the Walk for Strength but would still like to show your support\, please make a donation below. \nGroup Discount\nGroups of four or more receive 15% off registration by using code “WFSGROUP”.[/vc_column_text][/vc_column_inner][vc_column_inner width=”1/2″][vc_column_text] \nBecome a Sponsor or Recruit a Sponsor\nSponsors are recognized on the back of t-shirts\, on our website\, and on our Facebook\, Instagram\, and Twitter feeds. The ACD has a social media reach of over 180\,000 views per year. \nIf you have a business you’d like to approach\, write them a personalized letter about why CCDS advocacy\, education\, and research are important to you and include our Walk Sponsorship Information PDF. Sponsorship information must be received by July 3 in order to be featured on the t-shirts. \nFor more information\, contact andrea@creatineinfo.org.[/vc_column_text][/vc_column_inner][/vc_row_inner][vc_raw_html]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[/vc_raw_html][/vc_column][/vc_row][vc_row css=”.vc_custom_1523072188788{background-color: #ffffff !important;}”][vc_column css=”.vc_custom_1523072220244{background-color: #ffffff !important;}”][vc_column_text css=”.vc_custom_1523294682111{background-color: #ffffff !important;}”] \nSponsors\n[/vc_column_text][/vc_column][/vc_row][vc_row full_width=”stretch_row” css=”.vc_custom_1523068988712{background-color: #ffffff !important;}”][vc_column css=”.vc_custom_1558114072380{background-color: #ffffff !important;}”][vc_row_inner content_placement=”middle”][vc_column_inner width=”1/3″][/vc_column_inner][vc_column_inner width=”1/3″][vc_single_image image=”16695″ img_size=”medium”][/vc_column_inner][/vc_row_inner][/vc_column][/vc_row]
URL:https://creatineinfo.org/event/walk-for-strength-2020/
CATEGORIES:Community Events
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20200321
DTEND;VALUE=DATE:20200322
DTSTAMP:20260430T114704
CREATED:20200122T234950Z
LAST-MODIFIED:20200123T032258Z
UID:14393-1584748800-1584835199@creatineinfo.org
SUMMARY:Swing Fore CCDS
DESCRIPTION:[vc_row][vc_column][vc_column_text] \nSwing Fore CCDS\nA Charity Golf Tournament Benefitting The Association for Creatine Deficiencies’ PatientStrong™\n[/vc_column_text][vc_single_image image=”14416″ img_size=”large” alignment=”center” onclick=”link_image”][/vc_column][/vc_row]
URL:https://creatineinfo.org/event/golftournament/
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20190906
DTEND;VALUE=DATE:20190908
DTSTAMP:20260430T114704
CREATED:20190527T205524Z
LAST-MODIFIED:20190722T155923Z
UID:7664-1567728000-1567900799@creatineinfo.org
SUMMARY:CCDS Workshop -Rotterdam
DESCRIPTION:[vc_section css=”.vc_custom_1562958237098{background-color: #c0378f !important;}”][vc_row][vc_column][vc_column_text] \nChoose a Language\n[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”1/3″ el_id=”english-box”][vc_cta h2=”English” txt_align=”center” shape=”square” style=”flat”][/vc_cta][/vc_column][vc_column width=”1/3″ el_id=”dutch-box”][vc_cta h2=”Dutch” txt_align=”center” shape=”square” style=”flat”][/vc_cta][/vc_column][vc_column width=”1/3″ el_id=”french-box”][vc_cta h2=”Française” txt_align=”center” shape=”square” style=”flat”][/vc_cta][/vc_column][/vc_row][/vc_section][vc_row css=”.vc_custom_1561668931427{margin-top: 0px !important;border-top-width: 0px !important;border-bottom-width: 0px !important;padding-top: 0px !important;padding-bottom: 0px !important;}”][vc_column][vc_column_text] \nSponsors & Partners\n[/vc_column_text][vc_raw_html]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[/vc_raw_html][/vc_column][/vc_row][vc_row disable_element=”yes” css=”.vc_custom_1563218696228{margin-top: -20px !important;margin-bottom: 0px !important;border-top-width: 0px !important;border-bottom-width: 0px !important;padding-top: 0px !important;padding-bottom: 0px !important;}”][vc_column width=”1/3″][vc_single_image img_size=”” alignment=”center” onclick=”custom_link” img_link_target=”_blank” link=”https://www.alzchem.com/” css=”.vc_custom_1563218543457{margin-top: 0px !important;}”][/vc_column][vc_column width=”1/3″][/vc_column][vc_column width=”1/3″][vc_single_image img_size=”” alignment=”center” onclick=”custom_link” img_link_target=”_blank” link=”https://everylifefoundation.org/” css=”.vc_custom_1563218571682{margin-top: -60px !important;}”][/vc_column][/vc_row][vc_column_inner width=”1/2″][/vc_column_inner][vc_column_text][/vc_column_text]
URL:https://creatineinfo.org/event/ccds-workshop-rotterdam/
CATEGORIES:Symposium
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20190408T133000
DTEND;TZID=America/Los_Angeles:20190408T173000
DTSTAMP:20260430T114704
CREATED:20181129T050830Z
LAST-MODIFIED:20190320T154312Z
UID:6433-1554730200-1554744600@creatineinfo.org
SUMMARY:CCDS Workshop at SIMD
DESCRIPTION:For more information\, and to register for this event\, please visit creatineinfo.org/simd.
URL:https://creatineinfo.org/event/ccds-workshop-at-simd/
CATEGORIES:Exhibits & Workshops
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Chicago:20180726T183000
DTEND;TZID=America/Chicago:20180729T120000
DTSTAMP:20260430T114704
CREATED:20180124T042202Z
LAST-MODIFIED:20230505T222445Z
UID:4516-1532629800-1532865600@creatineinfo.org
SUMMARY:2018 CCDS Scientific + Patient Symposium
DESCRIPTION:The first-ever in-person CCDS Symposium was held in Austin\, Texas with patients\, clinicians\, and researchers attending July 26 through July 29. Learn more here. Find the recordings of talks here.
URL:https://creatineinfo.org/event/ccds-symposium-2018/
CATEGORIES:Symposium
ATTACH;FMTTYPE=image/png:https://creatineinfo.org/wp-content/uploads/2018/01/conferenceheader-e1516495325145.png
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20180701
DTEND;VALUE=DATE:20180702
DTSTAMP:20260430T114704
CREATED:20180609T150018Z
LAST-MODIFIED:20180503T204351Z
UID:4536-1530403200-1530489599@creatineinfo.org
SUMMARY:Walk For Strength
DESCRIPTION:Walk For Strength\nJune 9\, 2018\n\nRegistration is now open for the third annual Walk for Strength. This walk is meant to be participated in by all CCDS families in their local communities. Your group may be as small as 1 or as large as you can recruit! Email us for more ideas and flyers to distribute\, etc. at info@creatineinfo.org.
URL:https://creatineinfo.org/event/walk-for-strength-4/
CATEGORIES:Community Events
ATTACH;FMTTYPE=image/jpeg:https://creatineinfo.org/wp-content/uploads/2016/12/Walk-For-Strength-3.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20180228
DTEND;VALUE=DATE:20180301
DTSTAMP:20260430T114704
CREATED:20180124T050107Z
LAST-MODIFIED:20180202T163334Z
UID:4534-1519776000-1519862399@creatineinfo.org
SUMMARY:Rare Disease Day
DESCRIPTION:Rare Disease Day\nWednesday\, February 28\, 2018\nCCDS are considered rare disorders and the ACD is proud to support Rare Disease Day.\nHelp us join with other rare disease groups in spreading Rare Disease and CCDS Awareness on February 28\, 2018. \nRare Disease Day is a worldwide initiative. For more information on this international event\, visit rarediseaseday.org. \nFor more information about Rare Disease Day in the US\, click here. \nShop and support ACD to get your CCDS Awareness merchandise today! \nFor ideas of how to participate in rare disease day and both support this initiative and raise awareness of Cerebral Creatine Deficiency Syndromes\, Click Here. \n\n[horizontal_line style=”4″ margin_top=”10″ margin_bottom=”20″] \nRare Disease Day CCDS Feature:\nTexas Children’s Hospital National featured this CCDS story for Rare Disease Awareness Week: “My Son’s Story”\nhttp://www.texaschildrensblog.org/2015/02/national-rare-disease-awareness-week-my-sons-story/
URL:https://creatineinfo.org/event/rare-disease-day/
CATEGORIES:Community Events
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20180201
DTEND;VALUE=DATE:20180202
DTSTAMP:20260430T114704
CREATED:20180124T050011Z
LAST-MODIFIED:20180929T181850Z
UID:4532-1517443200-1517529599@creatineinfo.org
SUMMARY:CCDS Awareness Day
DESCRIPTION:CCDS Awareness Day\nThursday\, February 1\, 2018\nIt’s official! February 1st is “Cerebral Creatine Deficiency Syndrome Awareness Day.”\nHelp spread awareness of CCDS by celebrating this day in your community.\nWe kicked off our first celebration of CCDS day in 2017 and are already working on plans to make 2018 even better! \nSome ideas for individuals in their hometown include: \n\nCreate a personalized campaign on our Crowdrise Page (Scroll down to the orange button “Create a Fundraiser”\, enter your CCDS story and pictures\, post on Facebook and it links back to support ACD’s campaign!)\nSpeak at your child’s school about CCDS.\nWear CCDS apparel\, available at the ACD Shop.\nDistribute awareness brochures and share your story with pediatricians\, developmental pediatricians\, pediatric neurologists\, and geneticists in your area. For brochures and other materials to share on CCDS Awareness day\, please email info@creatineinfo.org.\nBlog\, Tweet\, Facebook\, and Instagram your CCDS story and pictures of you spreading awareness on CCDS day\, using the hashtags #ccds #ccdsday and #acd.
URL:https://creatineinfo.org/event/ccds-awareness-day/
CATEGORIES:Community Events
ATTACH;FMTTYPE=image/jpeg:https://creatineinfo.org/wp-content/uploads/2015/09/TyPaigeCCDS-scaled.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20171004
DTEND;VALUE=DATE:20171007
DTSTAMP:20260430T114704
CREATED:20180124T050530Z
LAST-MODIFIED:20180916T190947Z
UID:4540-1507075200-1507334399@creatineinfo.org
SUMMARY:Children's Neurology Society Meeting 2017
DESCRIPTION:Children’s Neurology Society Meeting 2017\nKansas City\, MO\nOctober 4-6\, 2017\n\nAt this meeting\, we were able to speak to many children’s neurologists about the need for early diagnosis of CCDS. We were also able to answer their questions thanks to information from a survey completed by CCDS families.
URL:https://creatineinfo.org/event/childrens-neurology-society-meeting-2017/
CATEGORIES:Exhibits & Workshops
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20170930
DTEND;VALUE=DATE:20171001
DTSTAMP:20260430T114704
CREATED:20180124T050610Z
LAST-MODIFIED:20180124T050610Z
UID:4542-1506729600-1506815999@creatineinfo.org
SUMMARY:Rockin' For A Cause
DESCRIPTION:Rockin’ For A Cause\nDripping Springs\, TX\nSaturday\, September 30\, 2017\n\nACD’s first ever benefit concert\, “Rockin’ for a Cause”\, was held in Austin\, Texas at the Mercer Street Dance Hall. Live music was provided by Worn Out Souls and headliner Micky and the Motorcars. The event brought in over 200 people in support of CCDS and raised over $52\,000! All proceeds from Rockin’ for a Cause go directly toward supporting programs for research\, education\, newborn screening advocacy efforts\, and patient support initiatives.
URL:https://creatineinfo.org/event/rockin-for-a-cause-2/
CATEGORIES:Exhibits & Workshops
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20170610
DTEND;VALUE=DATE:20170611
DTSTAMP:20260430T114704
CREATED:20180124T045820Z
LAST-MODIFIED:20180124T045904Z
UID:4529-1497052800-1497139199@creatineinfo.org
SUMMARY:Walk For Strength
DESCRIPTION:Saturday\, June 10th\nHost a local walk\, join an existing team\, or make a donation of support! Here’s how: \n[columns]\n[column layout=”two border”] \nTo host a local walk:\n\nChoose a Team Name\, Walk Location\, and Start Time.\nLocations may include neighborhoods\, parks\, hike and bike trails\, school tracks\, etc.\nGet Registered!\nRegister Here \nBe sure to enter your Team Name and share it with friends and family that plan to join your team. Get registered by May 15th. **Registrations received after May 15th will not include a shirt.\nNote: Shirts will be sent to the host to distribute on walk day.\nInvite Your Friends and Neighbors to Join.\nIdeas include: Create a Facebook page for your team or send out a letter or email to friends and loved ones that you would like them to join in your walk. Explain why you are walking and what their support means to you! No team is too small! Contact Heidi with questions. If your group is large\, we can help with the logistics.\nWalk on June 10th & Take Pictures to Share!\nShare your walk day pics by emailing them to heidi@creatineinfo.org.\n\n[/column]\n[column layout=”two border last”] \nTo join an existing team or walk alone:\n\nGet Registered!\nRegister Here \nBe sure to enter the *Team Name created by your walk host or enter “SOLO” if you’ll be walking alone.\nGet Your Gear.\nIf you are walking with a team\, your shirt will be sent to the host to distribute on walk day. *If you are walking alone\, enter “SOLO” for your team name\, and your shirt will be mailed directly to you.\n\nShow of Support\nIf your friends and family can’t make it on walk day\, but want to support your team\, they can \nDonate Here \nto make a donation. Choose “Walk for Strength” and enter the team’s name in the “in honor or memory of” section. \n[/column]\n[/columns]
URL:https://creatineinfo.org/event/walk-for-strength-2/
CATEGORIES:Community Events
ATTACH;FMTTYPE=image/png:https://creatineinfo.org/wp-content/uploads/2018/01/Screen-Shot-2018-01-23-at-10.57.38-PM.png
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20170422
DTEND;VALUE=DATE:20170424
DTSTAMP:20260430T114704
CREATED:20180124T050406Z
LAST-MODIFIED:20180124T050406Z
UID:4538-1492819200-1492991999@creatineinfo.org
SUMMARY:MedX- Stanford University Abstract Presentation: Benefitting the Rare Disease Community Through Collaboration
DESCRIPTION:MedX- Stanford University Abstract Presentation: Benefitting the Rare Disease Community Through Collaboration\, April 22-23\, 2017
URL:https://creatineinfo.org/event/medx-stanford-university-abstract-presentation-benefitting-the-rare-disease-community-through-collaboration/
CATEGORIES:Exhibits & Workshops
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20170322
DTEND;VALUE=DATE:20170325
DTSTAMP:20260430T114704
CREATED:20180124T050705Z
LAST-MODIFIED:20180124T050705Z
UID:4544-1490140800-1490399999@creatineinfo.org
SUMMARY:American College of Medical Genetics Conference 2017
DESCRIPTION:American College of Medical Genetics Conference 2017\nPhoenix\, AZ\nMarch 22-24\, 2017\nThe 2017 ACMG conference in Phoenix\, Arizona was well attended by geneticists from all over the world as well as other allied health care members. The ACD was privileged to speak with hundreds of attendees that visited their booth\, including Dr. Simona Bianconi from the NIH. Dr. Bianconi has a current publication in the Rare Neurological Disease Special Report on Creatine Transporter Deficiency Disorder. The publication can be viewed here on page 51. \n Dr. Simona Bianconi and Linda Cooper\nDr. Judy Miller from Children’s Hospital of Philadelphia was in attendance and presented her research findings in the poster “Early Warning Signs and Clinical Endpoints for Creatine Transpoter Deficiency”\, raising even more awareness of CCDS in the genetics community. \n Dr. Judy Miller\nACD Ambassador and pediatric genetic counselor\, Laura Martin\, attended ACMG and helped staff the booth and answer questions. \n Kim Tuminello and Laura Martin
URL:https://creatineinfo.org/event/american-college-of-medical-genetics-conference-2017/
CATEGORIES:Exhibits & Workshops
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20170201
DTEND;VALUE=DATE:20170202
DTSTAMP:20260430T114704
CREATED:20180124T050759Z
LAST-MODIFIED:20180923T204649Z
UID:4546-1485907200-1485993599@creatineinfo.org
SUMMARY:CCDS Day & Rare Disease Day
DESCRIPTION:CCDS Day & Rare Disease Day\nIn 2017 we celebrated our first Cerebral Creatine Deficiency Syndrome Awareness Day on February 1st. This is a fitting time of year to recognize the importance of these rare disorders\, as the world-wide Rare Disease Day falls on February 28th. The month was filled with posts of support and sharing CCDS education amongst all. The sense of community was inspiring as profiles on FaceBook were changed to a virtual CCDS ribbon and pictures were posted of families wearing “We Are Rare” t-shirts. ACD is already planning towards the next CCDS Day\, February 1\, 2018! \n The Robinson Family on CCDS Day
URL:https://creatineinfo.org/event/ccds-day-rare-disease-day/
CATEGORIES:Community Events
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20161205
DTEND;VALUE=DATE:20161207
DTSTAMP:20260430T114704
CREATED:20180124T050837Z
LAST-MODIFIED:20180124T050837Z
UID:4548-1480896000-1481068799@creatineinfo.org
SUMMARY:CTD Workshop
DESCRIPTION:CTD Workshop\nParis\, France\nDecember 5 – 6\, 2016\n\nThe ACD was honored to attend the CTD workshop\, organized by Dr. Aurore Curie\, Dr. Vincent des Portes and representatives of DeficSience and Xtraordinaire. For two days\, CTD held center stage. Discussions focused on the disease itself\, importance of collecting natural history data\, potential intervention therapies\, and the need for clinical trials. The call for a CTD treatment is getting louder. With data provided by our patient community\, we were able to share the patient perspective relating to natural history outcomes and feelings surrounding clinical trials. The ACD’s CTD Presentation can be viewed here.
URL:https://creatineinfo.org/event/ctd-workshop/
CATEGORIES:Exhibits & Workshops
END:VEVENT
END:VCALENDAR