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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 new gene mutation was identified in five family members with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), a Chinese case report describes. The study, “A Novel AIFM1 Mutation in a Chinese Family with X-linked Charcot-Marie-Tooth disease type 4,” appeared in the journal Neuromuscular Disorders. Mutations in…

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…

Muscle weakness due to excessive or repetitive muscle use, a symptom known as “overwork weakness,” is evident in the hands of patients with Charcot‐Marie‐Tooth (CMT) disease, a study reported, suggesting that greater awareness and better therapy programs could help to prevent the loss of upper-limb strength in these people. The…

A cochlear implant — a complex electric device that partially restores hearing — is a viable option to manage hearing loss associated with Charcot-Marie-Tooth (CMT) disease, according to a case report. The report, “Cochlear Implantation in Charcot-Marie-Tooth Disease: Case Report and Review of the Literature,” was…

A specific mutation in a small RNA molecule called miR-149 was found to be linked to both age of onset and severity in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), according to researchers. Their study, “Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease…

Specific genetic sequences are critical for normal expression of Pmp22, the critical gene in Charcot-Marie-Tooth disease type 1A (CMT1A), a new study shows. The study, “Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer,” was published in the journal Human Molecular Genetics. CMT1A is caused by…

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),…

Inhibition of a tumor suppressor enzyme called MST1 could reverse the effects of the genetic mutations that cause Charcot-Marie-Tooth disease type 4J (CMT4J), researchers show in a fruit fly study. The study, “Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown,”…