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171 Results

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

2023

18 Ways Children’s Hospitals Are Pioneering Pediatric Treatments

Children’s Hospital Association

CHILDREN’S HOSPITAL ASSOCIATION: Children’s hospitals and health systems are leading the research and development of pediatric-specific treatments and technologies to ensure happier, healthier futures for kids.

October 26, 2023

Quick genetic test offers hope for sick, undiagnosed kids. But few insurers offer to pay.

CBS News / KFF Health News

CBS NEWS: Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction.

October 23, 2023

International Newborn Genome Sequencing Projects Discuss Differences, Future Goals

Precision Medicine Online

PRECISION MEDICINE ONLINE: Newborn genome sequencing projects focusing on seemingly healthy babies shortly after birth are forging ahead around the world, but their approaches differ according to each country’s population structure, disease prevalence, healthcare system, treatment availability, and more.

October 9, 2023

Rare Community Profiles: Inozyme’s Catherine Nester Discusses Newborn Screening and the GACI Diagnostic Delay

Patient Worthy

PATIENT WORTHY: Catherine Nester spoke with Patient Worthy about the importance of newborn screening, the challenges of diagnostic delays, and how Inozyme is working to transform the treatment landscape for ENPP1 Deficiency and ABCC6 Deficiency, also known as Generalized Arterial Calcification of Infancy (GACI) types 1 and 2, respectively.

September 27, 2023

Why Pharma Should Pay Attention to – and Be Part of – Rapid Whole Genome Sequencing Advancement

Fierce Pharma

FIERCE PHARMA: In part two of this series, we turn our attention to rWGS and the pharmaceutical industry – specifically, the great potential of rWGS in drug development and patient access, and the important role pharma plays in advancing this promising technology.

September 25, 2023

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