News & Events

Center Fellow Akos Herzeg, MD, and colleagues have conducted a scoping review of current literature to better understand the causes and the genetic basis of primary hydrocephalus. Among the over 160 genes linked to this condition, single-gene mutations in L1CAM, TRIM71, MPDZ, and CCDC88C have emerged to play a critical role in the development of primary hydrocephalus. Some may represent promising targets for prenatal somatic cell gene therapy, potentially preventing pathogenic phenotypes, improving neurodevelopmental outcomes, and reducing the need for pre- or postnatal surgical approaches. Considering the emerging nature of prenatal molecular therapies and the absence of established guidelines, this review provides a comprehensive overview of current knowledge, encouraging the clinical and scientific community to reassess and refine practices for optimal assessment and management.
News September 10, 2024

The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review
Picture of Ali Amid, MD
Events

Alpha Thalassemia Major Beyond the Neonatal Period: From a Pond of Knowledge to an Ocean of Unknowns

September 26, 2024
Picture of Hian Yan Voon, MD
Events

Southeast Asian Ovalocytosis: An Alpha Thalassemia Major Imposter?

January 23, 2024
Events

2024 Maternal-Fetal Precision Medicine Symposium

January 26, 2024
ATM Quarterly Meeting-Nov 7, 2023, Lentiviral Gene Therapy for Alpha Thalassemia Event-ATM Qrtly-Nov 7, 2023
Events

Development of a Lentiviral Gene Therapy for Alpha Thalassemia

Donald B. Kohn & Eva Segura, PhD Candidate Tuesday, November 7, 2023, 8:00-9:00 am (San Francisco) In this session:

November 7, 2023
ATM Quarterly Meeting Singapore Experience-Aug 12 2023, Rapid Evolution in Management Strategy of Bart's Hydrops Fetalis Syndrome(BHFS) - Singapore Experience.
Events

Management Strategy of Bart’s Hydrops Fetalis Syndrome – Singapore Experience

Rajat Bhattacharyya, MBBS & Lee Ming Wei, MBBS Tuesday, August 15, 2023, 8:00-9:00 am (San Francisco)  Check your time zone […]

August 15, 2023
Events

Prenatal Enzyme Replacement Therapy for Lysosomal Storage Diseases

Virtual Information Session Thursday, April 27, 2023, 8:00-9:30 AM PDT check your time zone Register: https://tinyurl.com/IUERT  Join us to learn […]

April 27, 2023