Children’s Hospital Los Angeles (CHLA) has named Jaclyn Biegel, PhD, a leading academic expert on pediatric brain tumors, rhabdoid tumors, and cancer cytogenetics, as the Director of the Center for Personalized Medicine at CHLA.
Dr. Biegel, who formerly served as Director of the Cancer Cytogenetics Laboratory at Children’s Hospital of Philadelphia and Professor of Pediatrics in the Perelman School of Medicine at the University of Pennsylvania, is now Professor of Pathology (Clinical Scholar) at the Keck School of Medicine of the University of Southern California (USC), and also serves as Chief of CHLA’s new Division of Genomic Medicine in the Department of Pathology and Laboratory Medicine.
Goals of New Positions
Dr. Biegel is overseeing the development and implementation of new genomic tests for diagnosis and risk assessment for children and families with a variety of genetic disorders and cancer and is collaborating in multidisciplinary research with clinical teams at CHLA and at the Keck School of Medicine of USC.
The mission of CHLA’s Center for Personalized Medicine is to unravel the genetic basis of disease and set new standards for using genetic profiles to effectively diagnose, treat, and care for children. Dr. Biegel’s expertise in identifying the risk factors and genetic triggers that predispose patients to certain diseases is helping advance the long-term promise of personalized medicine: therapies, even cures, for diseases that currently have no treatment. And as Chief of CHLA’s new Division of Genomic Medicine, Dr. Biegel said her team supports the hospital’s Division of Medical Genetics to provide tools that help deliver superior onsite patient care and forge multi-institutional collaborations in the genomics of childhood disease.
A Pioneer in Rhabdoid Tumor Research
Dr. Biegel is well known for her work with rhabdoid tumors, an extremely rare and aggressive form of cancer that can affect the brain, kidneys, and other soft tissues in children and infants. Over her academic career, Dr. Biegel has played a major role in developing state-of-the-art diagnostic genetic tests for children with hematologic malignancies and solid tumors. At Children’s Hospital of Philadelphia, Dr. Biegel’s laboratory was the first in the United States to provide high-resolution genomic single-nucleotide polymorphism array studies for children with cancer on a clinical basis. Her laboratory first described that genetic abnormalities in the SMARCB1 gene can predispose children to rhabdoid tumor and demonstrated that specific genetic alterations in chromosome band 7q34 result in novel gene fusions involving BRAF, which characterize the vast majority of low-grade gliomas of the brain in children.
“Understanding the cytogenetic and molecular makeup of bone marrow and tissue samples from children diagnosed with bone marrow failure, leukemia, and solid tumors is important both in helping clinicians make the appropriate diagnosis and also in determining prognosis and appropriate treatment planning,” said Dr. Biegel. About 25% of patients with rhabdoid tumors, she explained, have no family history of cancer and yet are born with a genetic predisposition because they carry an abnormal SMARCB1 gene.
“Detailed molecular workup for these children is crucial, so they can be followed closely for additional tumors and their families can receive genetic counseling regarding risks for other family members who may have the same gene abnormality,” she said. “One of the goals of the Center is to provide this type of comprehensive genetic evaluation for all children with cancer.”
Dr. Biegel earned her PhD in Human Genetics from the University of Pittsburgh and also served as Editor-in-Chief of the scientific journal Cancer Genetics. ■