rare diseases

For kids with rare genetic disorders, customized CRISPR treatments offer hope

6:00am December 13, 2024

The gene-editing technique is effective for treating some illnesses but it's been too expensive to consider it for rare conditions. A new approach in the works could make it more widely available.

Sam Berns and Audrey Gordon, executive director of The Progeria Research Foundation and Berns's aunt, attend The New York Premiere Of HBO's "Life According To Sam" on October 8, 2013 in New York City.

FDA Approves First Drug For A Rapid Aging Disorder In Children

11:33am November 23, 2020

by Jon Hamilton

A newly approved drug can extend the lives of children with progeria, a rare disorder that causes rapid aging. The drug is the result of one family's effort to help a child with the fatal condition.

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A phlebotomist draws blood from a patient participating in a clinical trial for a cancer treatment. With hospitals focused on COVID-19, hundreds of studies are being put on hold.

Health & Safety

Coronavirus Pandemic Brings Hundreds Of U.S. Clinical Trials To A Halt

4:15pm April 11, 2020

by Sydney Lupkin

COVID-19 has led to the suspension of many clinical studies of experimental treatments. About a quarter of the stopped trials involved new cancer treatments, an NPR analysis finds.

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Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit.

Health & Safety

Fast DNA Sequencing Can Offer Diagnostic Clues When Newborns Need Intensive Care

7:59pm October 28, 2019

by Richard Harris

Rapid genome decoding and analysis have made it possible to quickly diagnose some baffling rare diseases that make babies sick. Even when there's no cure, the information can help families cope.

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Alex, at 4 years and 11 months old, throws a toy football.

A Boy's Mysterious Illness Leads His Family On A Diagnostic Odyssey

1:07pm October 16, 2019

by Richard Harris

Alex Yiu was born a seemingly healthy baby. But by age 2, his muscle control and speech were deteriorating. His baffling condition took a decade to diagnose. The reanalysis of a DNA test was the key.

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Zolgensma, a new drug approved by the FDA Friday, costs more than $2.1 million. It's made by AveXis, a drugmaker owned by pharmaceutical giant Novartis.

At $2.1 Million, New Gene Therapy Is The Most Expensive Drug Ever

9:45pm May 24, 2019

by Rob Stein

The Food and Drug Administration approved a new gene therapy for a rare but devastating genetic disorder. The drugmaker says the cost is worth it because it's a one-time treatment that saves lives.

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Seven-year-old Carson Miller (left), and his brother, 5-year-old Chase Miller (right), both have a degenerative brain disease called MEPAN syndrome. There are only 13 people in the world who have it.

Medical Detectives: The Last Hope For Families Coping With Rare Diseases

11:05am December 17, 2018

by Lesley McClurg

When Nikki and Danny Miller's two young sons developed strange symptoms, they began searching for a diagnosis. Their odyssey ended when a team of medical sleuths solved the case.

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The Food and Drug Administration has seen a sharp increase in applications for drug to treat rare diseases. An oversight report found problems with how agency is handling them.

Health & Safety

FDA Faulted For Lapses In Orphan Drug Program

4:07pm November 30, 2018

The Government Accountability Office found breakdowns in the way the Food and Drug Administration evaluates drugs for rare diseases. The analysis came after an investigation by Kaiser Health News.

Connor Webb and his mother, Kim Webb, stand outside of their home in Huntington Beach, Calif. Connor was treated for a rare cancer at 16. He's well now but his mother is fighting for new cures in case the cancer comes back.

Scientists And Parents Band Together To Research Cures For Rare Childhood Cancer

2:27pm October 26, 2018

by Esther Landhuis

A research start-up is connecting parents with scientists in hopes of sparking new research on diseases whose survival rates and treatment options haven't budged in 30 years