Johns Hopkins researchers have published a study showing that a lack of diverse racial and ethnic data negatively impacts the treatment and diagnosis of a rare disorder. This study results from analyzing 79 US studies related to the diagnosis and treatment of Hereditary Hemorrhagic Telangiectasia (HHT), which occurs in 1 in 5,000 people. The researchers suggest that future HHT studies should include a broader spectrum of patients across multiple racial and ethnic backgrounds, thereby reducing potential bias.
Worldwide Clinical Trials (Contract Research Organization, CRO) and molecular diagnostics company Invitae announced a partnership in the field of clinical trials for rare diseases. Worldwide Clinical Trials plans to use Invitae's data platform 'Explorer' to efficiently recruit clinical patients and determine clinical trial locations.
A project begins to investigate the effects of Friedreich's Ataxia, a rare disease affecting the brain and spinal cord, on patients living situations. The study aims to evaluate the health-related, psychosocial and economic impacts. And Germany's German Center for Neurodegenerative Diseases (DZNE) will work with several institutions worldwide to recruit patients and collect data based on an app.
Gathering together accurate symptom information is important for an accurate genetic diagnosis. The researcher in the article is introducing a deep phenotyping technique based on Natural Language Processing (NLP) as a technique for this. It is a method of analyzing free notes recorded in EHRs (Electronic Health Records) and converting them into Human Phenotype Ontology (HPO) terms.