Dr. Mark Levin is a board certified pediatric cardiologist at the National Institutes of Health (NIH) and the National Heart, Lung & Blood Institute (NHLBI), and has gained experience working with Creatine Transporter Deficiency (CTD) patients through his work on the Vigilan Observational Study. Dr. Levin presented at the 2021 CCDS Virtual Conference on “Cardiac Abnormalities in Patients and Animal Models of Creatine Transporter Deficiency” and a video of his presentation is available on the ACD YouTube channel.
Creatine Decoded: ACD-Funded CTD Drug Repurposing Fellowships Make Progress in Year One
Patient Samples from Coriell Biobank in Studies Seeking to Understand CTD Mutations & Explore Existing FDA-Approved Drugs as Potential Treatments
#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays and interviews feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about.
Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org.Continue reading
Creatine Decoded: The power of patient registries and patient-led research initiatives
How CCDS Families and Caregivers Can Drive ResearchCreatine Decoded: The power of patient registries and patient-led research initiatives – How CCDS Families and Caregivers Can Drive Research
#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays and interviews feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about.
This interview is brought to you by Kirsten Wiebe, Science Writer at the University of British Columbia, Dr. Sylvia Stockler, MD, University of British Columbia, and Sofia Balog, ACD Patient Registry Coordinator.
Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org.Continue reading
Creatine Decoded: How to Read your Genetic Test Report – Webinar Recap & Video
This essay was written by Erin Coller, ACD Director of Communications with support from Sofia Balog, ACD Patient Registry Coordinator and Laura Trutoiu, ACD Director of Research.
#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about. Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org. Continue reading
This essay was written by Laura Trutoiu, ACD Director of Research, with support from Erin Coller, ACD Director of Communications, and Sangeetha Iyer, ACD Scientific Advisor.
#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors, often parents, who, with the help of the ACD, explore in their own words the CCDS science you want to know more about. Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org.
When we got Rohan’s Creatine Transporter Deficiency (CTD) genetic diagnosis mid-2017 he was two and a half and had barely started to walk. Though sweet and loving, Rohan wasn’t using words and wasn’t quite doing what other two year olds do. It was a long road to a diagnosis and finding the genetic cause was a blow and a sigh of relief. I got the call at work and jumped out of an ordinary meeting into a brave new world full of genes and mutations. Continue reading
Creatine Decoded: Featured Scientist, Dr. Jonathan Schlebach PhD
This essay was written by Celeste Graham, ACD Director of Education, with the support ofSangeetha Iyer, ACD Scientific Advisor.
#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant forCerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors,often parents, who with the help of the ACD, explore in their own words the CCDS science youwant to know more about. Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Directorof Research auract@creatineinfo.org.
Dr. Jonathan Schlebach, PhD (Indiana University-Bloomington) participated in the ACD’s 2020 Virtual Conference and gave an informative talk on the “Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter”. ACD Director of Research, Laura Trutoiu, noticed a recent informative publication from Schlebach’s lab and invited him to attend the 2020 Virtual Conference. “It has been a pleasant surprise to learn about all of the exciting, ongoing research in the ACD community!” Schlebach noted. As a new member of the CCDS community, we are thankful that he has been willing to jump right in with presenting some of his lab’s research findings. Read on to learn a little more about Schlebach, his lab, and his research as it relates to CCDS!
Creatine Decoded: Behavior Support and the First ACD Webinar for Parents
This essay was written by Celeste Graham, ACD Director of Education with support from Laura Trutoiu, ACD Director of Research and Heidi Wallis, ACD President.
#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about. Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org.
Education is one of the key parts of our mission here at the ACD. This “Creatine Decoded” blog post gives a brief overview of a topic near and dear to many of us as CCDS parents: what science and psychological theory say about what therapies work for our kiddos related to their behaviors. The ACD recently held a webinar focused on supporting parents in the CCDS community in regards to challenging behaviors. I’m not sure about you, but we have seen an increase in behaviors the past few months in our house!
Creatine Decoded: Pharmacochaperoning & CTD Research Participation
This essay was written by Erin Coller with the support of Laura Trutoiu, Director of Research, and Sangeetha Iyer, ACD Scientific Advisor.
#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about. Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org.
Pictured: Dr. Sonja Sucic from the Medical University of Vienna presenting on pharmacochaperoning at the Creatine Deficiency Workshop in Rotterdam in September 2019
Being a CCDS/CTD mom, I understand that it can be very easy to put a huge amount of hope in the idea of prospective treatments. The exciting news is that it’s not just a cliché to say that we can each make a difference. Our individual participation in the research process is vital and necessary to help researchers in the quest to find a cure for CTD. There are researchers around the world working on innovative new ideas for therapies that could really work to help our loved ones. Providing access to patient data is in our hands as parents and caregivers, and it is not an understatement to say that if we don’t do our job, the researchers can’t do their jobs. Continue reading
