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176 Results

2025

Long-Read Sequencing Pinpoints Genetic Basis for Psychiatric Diagnosis in Pediatric Case

Genetic Engineering and Biotechnology News

Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego have successfully applied long-read genome sequencing to reveal the genetic underpinnings of complex psychiatric conditions in a 17-year-old patient, showcasing the potential of this advanced technology for clinical diagnosis and future gene therapies.

April 30, 2025

Genetics in Schizophrenia Management: Emerging Technological Strategies

Reach MD

Growing evidence shows that genetic testing can inform schizophrenia management by identifying rare genetic variants that may influence treatment and outcomes. Dr. Aaron Besterman, a Health Sciences Associate Clinical Professor at USCD, explores the newest technological advancements in schizophrenia care.

April 18, 2025

Genetics and Schizophrenia: Key Ethical Considerations

Reach MD

While using genetics to inform schizophrenia management has become a promising new method, it also comes with several ethical challenges. Dr. Aaron Besterman, a Health Sciences Associate Clinical Professor at UC San Diego, explains how limited research and potential risks can complicate how we leverage these genetic technologies.

April 18, 2025

Championing Children’s Health

Our Tennessee The University of Tennessee

Routine newborn screenings showed the seemingly healthy little boy she and her husband, Daniel, had named Fitz had severe combined immunodeficiency (SCID), a rare genetic disorder that results in a nonfunctioning immune system.

March 28, 2025

BeginNGS Program Seeks to Improve Pediatric Rare Disease Dx, Treatment via Rapid NGS, Data Curation

GenomeWeb

In a paper published this week in the American Journal of Human Genetics, collaborators led by the Rady Children’s Institute for Genomic Medicine (RCIGM) formally spelled out plans to improve detection and treatment of rare hereditary pediatric diseases through rapid whole-genome sequencing (rWGS).

March 17, 2025

2024

Tennessee’s Medicaid program started covering DNA mapping to find genetic conditions

WPLN Tennessee Public Radio

When Christina Kettler gave birth to her first child, Fitz, in the summer of 2019, he seemed happy and healthy.

October 10, 2024

A teenager faced constant seizures. Could a drug developed just for him stop them?

Endpoints

ENDPOINTS: The story of a 14-year-old with an extremely rare genetic disease who was treated at Rady Children’s Hospital – San Diego with a drug specially developed for him by the N-Lorem Foundation.

July 16, 2024

Hudson the Hero: Genetic testing solves a medical mystery

Healthy Kids Magazine

Healthy Kids Magazine: At 13 months, seemingly out of nowhere, Hudson started having trouble breathing.

June 24, 2024

Pioneering studies show promise in sequencing a baby’s genome at birth

Washington Post

Washington Post: Early research study results show that genome sequencing is catching conditions not found through traditional newborn screening.

June 21, 2024

Super-speedy sequencing puts genomic diagnosis in the fast lane

Nature

NATURE: Streamlined workflows for DNA and RNA sequencing are helping clinicians to deliver prompt, targeted care to people in days — or even hours.

February 21, 2024

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