March 22-24, 2017
The 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.
Dr. 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.
ACD Ambassador and pediatric genetic counselor, Laura Martin, attended ACMG and helped staff the booth and answer questions.