rare disease Archives

Media Coverage
September 27, 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.

Media Coverage
September 25, 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.

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).

News Center Archives

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Tag: rare disease

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

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

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

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