Krabbe Newborn Screening

Krabbe Disease is a rare neurodegenerative disorder caused by mutations in the galactocerebrosidase (GALC) gene. Advancements in Krabbe newborn screening are making early diagnosis possible.   Image Source: Unsplash‍ Krabbe disease affects approximately...

Trofinetide for the Treatment of Rett Syndrome

Ponni Subbiah, MD, MPH, Senior Vice President Global Head of Medical Affairs and Chief Medical Officer, Acadia Pharmaceuticals, discusses trofinetide for the treatment of Rett syndrome.   Overview of Rett Syndrome Rett syndrome is a neurodevelopmental condition...

Advancements in Cancer Diagnosis

Milan Radovich, PhD, Chief Scientific Officer at Caris Life Sciences, discussed the use of artificial intelligence (AI) to improve the diagnosis of different cancer patients. Each patient’s imaging data, electronic health records, exome sequencing data, etc.,...