If you've ever wondered how the work of geneticists is essential to the ongoing research supported by the NA Advocacy, Gabriel Miltenberger-Miltenyi included this description of the geneticist's role as part of a presentation he gave in April. In the management of ChAc patients, the geneticist:

• Creates a bridge between patients, physicians and molecular labs, basic scientists
• Supports genetic analyses
• Cares about each step (e.g. informed consent, human biological tissue handling)
• Not only provides results, but writes and signs clinical genetic reports (the responsibility of a physician) to patients world-wide
• Offers genetic counseling and answers questions of patients, family members, physicians and care givers (in different languages (e.g. Portuguese); personally or via Skype – depending on the situation;
• Provides predictive, prenatal testing, NIPD
• Leads and collaborates in research projects

Our thanks to Dr. Miltenberger-Miltenyi for helping us better understand his important work.