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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 time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

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 disease, a French study reports. The study, “Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy…

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 must be tightly regulated because overproduction may result in detrimental effects. The study, “Adding a temporal dimension to the…

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 people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

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 blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients,” and is published in the…

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 shows. The study, “Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model…

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 a new non-invasive diagnostic modality for neurodegenerative diseases,” appeared in the journal Brain Research. Neurodegenerative diseases typically progress…

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. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

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 Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

The Muscular Dystrophy Association (MDA) awarded 13 grants totaling $2.6 million to promote and support research projects aimed at better understanding and treating muscular dystrophies and related life-threatening diseases, including Friedreich’s ataxia. Five of the new grants were awarded to recognized researchers in the neuromuscular field, and five were granted…