Rare Diseases and the Non-Physician Provider (Expired)
Faculty: Dawn Laney, MS, CGC, CCRC and Kara Anstett, MS, CGC Grant Support: Sanofi Genzyme
Joint Providers: Postgraduate Institute for Medicine and Enquiring Minds, LLC
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Optimize diagnostic and therapeutic strategies across families and lifespans.
Owen
An ophthalmologist performs a standard exam including routine slit lamp on his 12 year-old-son, Owen. He observes corneal whorls in both of Owen’s eyes, which were not seen on previous exams. The exam also reveals conjunctival vessel tortuosity.
Lori
Lori is a 33-year-old pregnant woman of European ancestry who is offered expanded carrier screening (ECS) during her first-trimester routine screening and ultrasound appointment.
Alex and Family
A husband and wife, both of Ashkenazi Jewish ancestry, decide to do direct to consumer (DTC) genetic testing to learn more about their ancestry and health risks. Their results indicate that they are both carriers of the N409S variant in the GBA gene.