Three NHS Genetics Labs Fail to Share Variant Data Vital for Rare Disease Diagnosis
A BMJ investigation finds that three of England's seven NHS genetics laboratories are failing to routinely submit genetic variants to ...
Tag: rare diseases
Rare Disease Patients Tell Researchers Exactly What Digital Health Tools They Need Most
A mixed-methods study of 149 rare disease patients and caregivers identifies centralized health data, telehealth, patient-generated data, and emergency support ...
Rare Neurological Diseases in Children Are Rising Worldwide, First Global Analysis Finds
The first global assessment of rare neurological diseases in children finds rising prevalence and disability from 1990 to 2021, declining ...
Global Survey Reveals How Plasma Donors Transform Lives of Patients Worldwide
A new global survey of more than 1,100 patients, caregivers, and providers finds that 69 percent noticed health changes within ...
Predictive model identifies patients for genetic testing
Patients who, perhaps unbeknownst to their health care providers, are in need of genetic testing for rare undiagnosed diseases can ...
Treatabolome project designed to shorten diagnosis-to-treatment time for patients with rare diseases
Experts contribute systematic reviews on rare neurological disorders in this special issue of the Journal of Neuromuscular Diseases dedicated to ...
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