News & Events

News Research May 20, 2025

Antisense oligonucleotides delivered into amniotic fluid improve spinal muscular atrophy in mice
Photo of Evangelia Vlachodimitropoulou
Events

In Utero Transfusions Beyond 35 Weeks Gestation in Alpha Thalassemia Major

June 12, 2025
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

The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review

September 10, 2024
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?

Hian Yan Voon, MD Tuesday, January 23, 2024, 4:00-5:00 pm (San Francisco) In this session:

January 23, 2024
Events

2024 Maternal-Fetal Precision Medicine Symposium

Friday, January 26, 2024 Symposium 1-5 PM followed by Reception at 5 PM Stem Kitchen and Garden, 499 Illinois Street, […]

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