Genetic counselor Amy Patterson kicks off our three-part hypophosphatasia (HPP) series explaining the disorder and diagnosis.
All tagged skeletal dysplasias
#401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan
Our third installment of our Achondroplasia Series, sponsored by BioMarin, explores the FDA approved vosoritide treatment with the doctor who led the clinical trials.
#386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs
The second installment of our Achondroplasia Series, sponsored by BioMarin, focusing on lifelong medical monitoring and care coordination with guest Dr. Ricki Carroll.
#359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains
A leading expert in pediatric genetics and skeletal disorders, Dr. Janet Laegare, provides her expertise.
#348: NIPT Beyond the Basics: Screening for Single-Gene Conditions
Dr. Fred Ushakov explains how combining single gene NIPT with imaging offers smarter, earlier insights in pregnancy.
#301 Dwarfism with Colleen Gioffreda
It Happened To Me episode featuring guest Colleen Gioffreda shares her experience living with dwarfism including her roles at Johns Hopkins, Little People of America, and as a mother.