Topic
An Introduction to Autosomal Recessive Conditions Due to Specific Founder Mutations in the Puerto Rican Population

Presented By
Michael Schneider, MD, chief, Department of Genetics, St. Christopher’s Hospital for Children

Rosie Bishop, MGC, licensed, Certified Genetic Counselor, Department of Genetics, St. Christopher’s Hospital for Children

Learning Objectives

• Define the mechanism of founder mutations in isolated populations
• Identify specific characteristics of named conditions to prompt appropriate genetic referrals
• Describe recommended evaluations for, treatments of, and outside referrals needed for conditions identified in higher incidence in individuals of Puerto Rican descent

Target Audience
Physicians, nurse practitioners, nursing personnel, fellows, residents, medical students and other health care professionals who take care of children

Accreditation Statement
Tower Health is accredited by the Pennsylvania Medical Society to provide continuing medical education for physicians.

Tower Health designates this live activity for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Claiming CME Credits
Attendees MUST sign in with the six-digit activity code provided at the session using eeds within 24 hours of the conference start time and complete the online evaluation within 30 days at