rare disease Archives

Media Coverage
September 12, 2023

How Rapid Whole Genome Sequencing Can Change the Rare Disease Game for Every Newborn

FIERCE Healthcare

FIERCE Healthcare: The rare disease journey can be long and difficult. rWGS could offer newborns a greater chance of successful diagnosis and intervention at birth.

Media Coverage
July 11, 2023

Testing Entire Genome Twice as Good at Spotting Genetic Disorders as Targeted Tests Are

U.S. News & World Report

U.S. NEWS & WORLD REPORT: Identifying genetic disorders in newborns and infants can help them get the care they need, but one approach -- whole genome sequencing -- appears far superior to another.

Media Coverage
June 15, 2023

Tackling Rare Diseases in 2023

Inside Precision Medicine

INSIDE PRECISION MEDICINE: While the field of rare diseases has seen much progress both in diagnostics and the development of new therapies, there are still significant challenges that need to be overcome to reach the majority of the 300 million people worldwide who are affected by these conditions.

Media Coverage
March 28, 2023

The doctor will see your phone now: Sequencing and speedy diagnosis give chance of timely care

New Zealand Doctor

NEW ZEALAND DOCTOR: In this cover story, journalist Alan Perrott grills a leader in genome sequencing and artificial intelligence on the future of healthcare.

Media Coverage
February 28, 2023

It takes an average of 8 years for a rare disease patient to get diagnosed. Why is it so hard to get life-altering genetic testing in the U.S.?

Fortune

Fortune: No one wants to find themselves sick or in need of a medical diagnosis. But there are those out there who already are—and are desperately seeking answers.

Media Coverage
February 28, 2023

Communications Medicine Q&A With Dr. Stephen Kingsmore

Nature Communications Medicine

NATURE COMMUNICATIONS MEDICINE: Stephen Kingsmore talks about the challenges in diagnosing rare diseases and how diagnosis could be improved in the future.

Press Releases
June 14, 2022

RCIGM Launches Program to Advance Newborn Screening for Treatable Genetic Diseases

Press Releases
January 12, 2022

Sanford Children’s Genomic Medicine Consortium Sequences Genomes in Immune-Compromised Children

Ten hospitals in the Sanford Children's Genomic Medicine Consortium are participating in genome sequencing research of patients who have primary immune deficiency diseases (PIDD) or primary immune regulatory disorders (PIRD).

Media Coverage
December 27, 2021

Baby Fitz was born without an immune system. His treatment offers hope for curing rare diseases.

USA Today

Babies with Fitz's condition, commonly known as "bubble boy disease," rarely survive to toddlerhood. He became one of the first babies anywhere to get a specific diagnosis within days of birth and an experimental therapy several months later that appears to have worked.

Media Coverage
December 1, 2021

A Rare Moment? Advances Spurring Rare Disease Diagnosis and Treatment

Clinical OMICs

While companies and investors have learned how to profit handsomely from rare diseases, they are still a healthcare desert to most people who suffer from them.

News Center Archives

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Tag: rare disease

How Rapid Whole Genome Sequencing Can Change the Rare Disease Game for Every Newborn

Testing Entire Genome Twice as Good at Spotting Genetic Disorders as Targeted Tests Are

Tackling Rare Diseases in 2023

The doctor will see your phone now: Sequencing and speedy diagnosis give chance of timely care

It takes an average of 8 years for a rare disease patient to get diagnosed. Why is it so hard to get life-altering genetic testing in the U.S.?

Communications Medicine Q&A With Dr. Stephen Kingsmore

RCIGM Launches Program to Advance Newborn Screening for Treatable Genetic Diseases

Sanford Children’s Genomic Medicine Consortium Sequences Genomes in Immune-Compromised Children

Baby Fitz was born without an immune system. His treatment offers hope for curing rare diseases.

A Rare Moment? Advances Spurring Rare Disease Diagnosis and Treatment

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