DiseasesGeneticsMedical researchBiomedicinegeneralHuman GeneticsCancer ResearchAgricultureGene FunctionThe genetics community has a particularly important part to play in accelerating rare disease research and contributing to improving diagnosis and treatment. Innovations in sequencing technology and machine learning ...
Public interventions have incentivized treatment development, yet up to this day, many rare disease patients are deprived of timely diagnosis and treatment in comparison to patients with more common diseases. This study evaluates the challenges that rare disease patients and healthcare systems face in ...
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of rare diseases do not have an approved treatment Striving for Equity in Rare People living with rare diseases can face significant challenges like lack of treatment options and access to care. These challenges weigh even more heavily on racial and ethnic minorities and marginalized groups, leading...
Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare. Methods Parents completed an online survey on health pr...
Successful development of new treatments for rare diseases (RDs) and their sustainable patient access require overcoming a series of challenges related to research and health technology assessment (HTA). These impediments, which may be unique to RDs or also apply to common diseases but are particular...
Patient challenges Because these diseases affect such a small group of people, it can be difficult to gather enough people for a clinical trial even with the Rare Disease Clinical Research Network is in place. Kelly explained that while heart disease studies may have tens of thousands of patients...
People with undiagnosed diseases have some unique challenges relative to people with other types of chronic disease. Encounters with the medical system are beset with communication difficulties caused by a lack of clear definition concerning medical signs and symptoms. Prognosis and treatment are imprecise...
Rare Disease and Orphan Drugs Journal, with Daniel Scherman as Editor-in-Chief, covers research on genetics, non-hereditary rare diseases, rare cancers, rare tropical diseases, etc. The content of the journal provides in-depth research on ALS, Gaucher di
TRACK 1: Rare Diseases and Orphan Drugs: Rare diseases affect a small percentage of the population but collectively impact millions worldwide. Orphan drugs, developed specifically for these conditions, face unique challenges due to the limited market size. However, incentives such as the Orphan Drug...