June 19, 2018June 19, 2018

Cancer Treatment May Be Able to Prevent Heart Problems in Friedreich’s Ataxia, Study Suggests

News

A therapy already approved to treat cancer could potentially be used to prevent heart abnormalities in Friedreich’s ataxia patients, according to a study that used a fruit fly model ... Read more

June 12, 2018June 12, 2018

In FA Case Study, Baclofen Administered in Spinal Canal Resolved Severe Muscle Spasms

News

Painful muscle spasms in a patient with Friedreich’s ataxia (FA) were managed by administering baclofen in the spinal canal, a case study reports. The study was published in the journal Stereotactic and ... Read more

June 11, 2018June 7, 2018

Going Through the Depression Tunnel with Friedreich’s

Columns, Fighting FA - a Column by Frankie Perazzola

It’s been tough lately. Just when I thought there was a light at the end of my depression tunnel, it got dark again, and I found myself having to ... Read more

June 5, 2018June 5, 2018

US ‘Right to Try’ Law Meets with Mix of Praise and Criticism, Including Among Those with Rare Diseases

News

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third ... Read more

June 5, 2018June 5, 2018

Gene Therapy Fully Reverses Friedreich’s Ataxia Changes in Mouse Model, Study Shows

News

A gene therapy approach to deliver frataxin, the protein that’s deficient in Friedreich’s ataxia (FA) patients, was able to reverse disease-related changes in a new mouse model of the ... Read more

May 31, 2018May 31, 2018

Too-high Levels of Frataxin in FA Can Cause Cellular Stress and Toxicity, Researchers Say

News

As therapies for Friedreich’s ataxia seek to increase the amount of frataxin, whose shortage underlies the disease, scientists conducting an in vitro study warn that levels of the protein ... Read more

May 29, 2018May 29, 2018

Chronic Inflammatory State Linked to Friedreich’s Ataxia, Genetic Study Reveals

News

Friedreich’s ataxia is associated with a chronic inflammatory state, according to the genetic pattern of peripheral blood cells revealed in a research study. The UCLA study is titled “Peripheral ... Read more

May 29, 2018May 29, 2018

#ERDC2018 – When Treating Rare Disease Patients, Don’t Overlook Quality of Life, Panel Urges

News

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different ... Read more

May 24, 2018May 24, 2018

Endoplasmic Reticulum Stress Could Be Treatment Target for Friedreich’s Ataxia, Study Suggests

News

Endoplasmic reticulum stress due to loss of frataxin protein plays a major role in the development of Friedreich’s ataxia and could be targeted for therapy, a study involving fruit flies ... Read more

May 17, 2018May 17, 2018

Breath Testing Shows Promise as Reliable, Simple Method for Diagnosing FA, Other Diseases

News

Breath testing holds potential as an accurate, simple, and noninvasive diagnostic tool for Friedreich’s ataxia (FA) and other neurodegenerative diseases, a review suggests. The study, “Emergence of breath testing as ... Read more

May 17, 2018May 17, 2018

‘Rare Impact Awards’ Dinner Marks Orphan Drug Act and NORD at 35

News

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. ... Read more

May 17, 2018May 17, 2018

#ECRD2018 – EU Must Do More for Rare Disease Patients, Eurordis Leaders Say

News

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in ... Read more