From HUCF’s founder

Dr. Wenhui Laura Li’s Research on Gene Sequencing Helps Pediatric Patients at Children’s Hospital Los Angeles, California 

Dr. Wenhui Laura Li, founder of Help Undiagnosed Children Foundation, and her innovative research on the next generation of gene sequencing, are helping pediatric patients (some as young as 4 months old) at Children’s Hospital Los Angeles by determining whether they have the specific mutations in their RB1 gene which leads to the development of retinoblastoma, a common form of pediatric cancer which attacks the eyes. Through this specialized testing, doctors can give an accurate diagnosis and thus the appropriate treatment for the patient at a very young age. Currently in the U.S., there is an over 95% cure rate for retinoblastoma, which usually shows up in children by age 2.

Through the Hospital’s Department of Pathology and Laboratory Medicine, where Dr. Li has worked as an Associate Director of Molecular Pathology and Genetics, her research along with other top-notch scientists led to the creation of the complex genetic sequencing which today can precisely determines an entire gene structure. Children’s Hospital Los Angeles is one of the few places in the world able to do this type of specialized gene sequencing for patients.

For a report on the Children’s Hospital Los Angeles use of this gene sequencing for pediatric retinoblastoma patients, access this link for the April 15, 2015 report by KPCC 89.3, a member of National Public Radio in Pasadena, California, “Detecting Infant Eye Cancer Advancing in SoCal” by Deepa Fernandes:

A professional paper with Dr. Wenhu L. Li as a principal author, entitled “A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improve Care for Retinoblastoma Patients and their Families,” was published in the Journal of Molecular Diagnostics, Vol. 18, No. 4, July 2016, and detailed the research supporting the RB1 gene sequencing used at Children’s Hospital Los Angeles for detection of retinoblastoma in children.

Paper Abstract

Retinoblastoma is a childhood eye malignancy that can lead to the loss of vision, eye(s), and sometimes life. The tumors are initiated by inactivating mutations in both alleles of the tumor-suppressor gene, RB1, or, rarely, by MYCN amplification. Timely identification of a germline RB1mutation in blood samples or either somatic RB1 mutation or MYCN amplification in tumors is important for effective care and management of retinoblastoma patients and their families. However, current procedures to thoroughly test RB1 mutations are complicated and lengthy. Herein, we report a next-generation sequencing-based method capable of detecting point mutations, small indels, and large deletions or duplications across the entire RB1 gene and amplification of MYCN gene on a single platform. From DNA extraction to clinical interpretation requires only 3 days, enabling early molecular diagnosis of retinoblastoma and optimal treatment outcomes. This method can also detect low-level mosaic mutations in blood samples that can be missed by routine Sanger sequencing. In addition, it can differentiate between RB1 mutation- and MYCN amplification-driven retinoblastomas. This rapid, comprehensive, and sensitive method for detecting RB1 mutations and MYCN amplification can readily identify RB1 mutation carriers and thus improve the management and genetic counseling for retinoblastoma patients and their families.

Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved

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