Results for Epilepsy Gene Discovery

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Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future.

Katherine L. Helbig, MS, LCGC

Katherine Helbig’s research focuses on identifying new genetic causes of epilepsy and understanding how genetic variation leads to seizures. An additional research focus is improving access to genetic services for people with epilepsy and investigating the impact of genetics on health outcomes.

E-mail:

helbigk [at] chop.edu

In the News: Big Data Analysis, High-risk Neuroblastoma, D3b Supports Tumor Sample Milestone

Published on

Apr 14, 2023

in Cornerstone Blog

Learn about a technique to analyze large datasets, preclinical results that show safety and efficacy of a drug that could help children with high-risk neuroblastoma, and a milestone in the CORSICA project that seeks to cure rare sinonasal cancers.

In the News: Parent-Adolescent Relationships, Infant Seizure Prediction Model, Society of Pediatric Research Award

Published on

Mar 31, 2023

in Cornerstone Blog

In the News: Parent-Adolescent Relationships, Seizure Prediction Model

Read about a first-of-its-kind seizure prediction model and a study that found parents and teens with healthy relationships have better long-term health outcomes.