Possible treatment breakthrough for the rare disease arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5) is a fatal genetic disease for which there is unfortunately no cure. Now, scientists at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) and Puerta de Hierro Majadahonda Hospital (Spain) have discovered a possible treatment for this rare disease. The research team, whose findings Continue Reading

Families of children with rare diseases open to advanced care plans with caregiver support

A novel palliative care intervention developed at Children’s National Health System for caregivers of children and adolescents with rare diseases has shown preliminary success at helping families talk about potentially challenging medical decisions before a crisis occurs. “Our goal was to find out if it the tools we’ve developed are Continue Reading

Molecular traffic jam may underlie rare kidney disease, other protein misfolding disorders

Researchers have long known that dozens of inherited diseases, called toxic proteinopathies, are caused by the build-up of specific misfolded proteins in cells. But, the molecular mechanisms responsible for this accumulation have remained a mystery—hampering efforts to develop therapies. Now, researchers at the Broad Institute of MIT and Harvard and Continue Reading

Two deaths and 23 cases of rare cancer in the U.K. linked to controversial textured breast implants

Since the year began, two women in the U.K. have died from cancer after receiving breast implants, revealed the Medicines and Healthcare Products Regulatory Agency (MHRA). The organization has reported another 23 cases of women who’ve developed the same type of cancer: anaplastic large cell lymphoma (ALCL). The disease is Continue Reading