The field of genetics continues to grow and evolve, and Dr. Neena Champaigne is on the forefront of pediatric genetics.
Dr. Champaigne’s passion for Punnett squares in 9th grade lead her to a career as a clinician where she helps patients every day.
At the Medical University of South Carolina, Dr. Champaigne serves as an Associate Clinical Professor and is the Division Chief of Pediatric Genetics.
She’s particularly passionate about newborn screenings, which sometimes detects illnesses in babies who may not otherwise be diagnosed until symptoms appear (which could be too late) to receive life-saving treatment.
Dr. Champaigne shares the story of her start into genetics, tells us why newborn screenings are so important, she talks about walking with patients on their “diagnostic odyssey,” shares advice for new geneticists, and more.
Links Dr. Champaigne mentioned during the interview:
Newborn Screening Info: https://www.babysfirsttest.org
National Coordinating Center for the Regional Genetics Networks: https://nccrcg.org
Learn more about the MUSC Children’s Hospital: https://musckids.org
Topical time codes:
00:00 – Interview starts
1:06 – Finding the field of genetics
3:40 – Passion behind the work
4:17 – Newborn screenings, story about Pompe
6:17 – Therapy for genetic conditions
7:30 – How conditions are added to newborn screenings
9:46 – Helping patients on their “Diagnostic Odyssey”
12:22 – Equity in genetics, from insurance to access to treatment
14:48 – Resources to access providers
17:02 – Advice for people beginning the genetics journey
18:17 – Advice for new geneticists
