News

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.

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

Center Fellow Akos Herzeg, MD, and colleagues have conducted a scoping review of current literature to better understand the causes […]

September 10, 2024

Meet The Team

Each month we introduce you to one of our fantastic team members. Meet Nuriye Sahin-Hodoglugil, DrPH,   Fetal Sequencing Program Manager, managing […]

April 10, 2023
Headshot image of Dr. Mary Norton

UCSF Joins Maternal-Fetal Medicine Units Network

Mary Norton, MD Center Co-Director Mary Norton and team will join the Maternal-Fetal Medicine Units Network (MFMU) with funding from […]

March 27, 2023

2023 American Society of Hematology Scholar Award

Kyle Cromer, PhD Center Investigator and Assistant Professor of Surgery Kyle Cromer, PhD, MPhil, is a recipient of this year’s […]

February 1, 2023
ATM Quarterly Meeting Winger-Feb 15 2023, Pharmacokinetics of Chelators in Infants with Alpha Thalassemia Major

Pharmacokinetics of Chelators in Infants with Alpha Thalassemia Major

Beth Apsel Winger, MD, PhD Wednesday, February 15, 2023, 4:00-5:00 pm (San Francisco) In this session, Dr. Winger discussed: This […]

February 15, 2023
Image of Dr. Simon Chu in the lab

Meet The Team

Each month we introduce you to one of our fantastic team members. Meet Simon Chu, MD, MS, a Surgery Resident […]

January 30, 2023
Photograph of Ayla and her parents credit CHEO Media House

First-in-Human In Utero Enzyme Replacement Therapy

“As new treatments become available for children with genetic conditions, we are developing protocols to apply before birth.” Tippi MacKenzie, […]

November 9, 2022
Photograph of Center Investigator Teresa Sparks, MD, MAS

Meet The Team

Each month we introduce you to one of our fantastic team members. Meet Center Investigator Teresa Sparks, MD, MAS! Q. […]

November 8, 2022
Headshot photograph of Center member Akos Herzeg

Meet The Team

“Knowing what your genes hide and what to do about it is the single most important insight for your future. […]

October 10, 2022
Image of ultrasound

For nonimmune hydrops, prenatal exome sequencing does better than gene panels

Our group has just published a paper comparing our experience with the diagnostic yield of exome sequencing with targeted gene […]

September 15, 2021