“Gene Sequencing and Gene Therapy” – Matthew Skelton, PhD Watching the videos that are posted from the conference brings back the excitement and all the feels from being at the […]
Creatine Deficiency Educational Video When it was decided to do the first ACD Scientific Symposium and Family Conference in Austin, TX 2018, the idea that so many of us would […]
“GAMT Novel Therapeutics” – Andreas Schulze, MD PhD FRCPC The ACD Conference held in Austin, TX in July 2018 was truly a wonderful experience and opportunity for so many of […]
“CCDS Seizures” – Denise Morita, MD Our son Dylan, who is 5 and was diagnosed with CTD earlier this year, was originally diagnosed with epilepsy at the age of 2. […]
“A Deeper Understanding of CCDS” – Sarah Young, PhD, FACMG Did you know the Association for Creatine Deficiencies has an amazing patient registry? For rare diseases, patient registries are critical […]
“Newborn Screening Presentation” – Kim Tuminello & Nicola Longo, MD PhD September is National Newborn Screening Awareness Month, and on that note, we would like to share with you the […]
“Three Lessons from the First ACD Patient and Family Symposium” – Laura On a balmy night in late July we flew into Austin for the first Cerebral Creatine Deficiencies Syndrome […]