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 ...
ICON can help you navigate the clinical development challenges in rare and orphan diseases We understand the unique challenges rare disease patients face generally and in clinical research studies, compared to those in more common indications. Lives are uprooted and postponed in search of treatment, ...
Transform market challenges into opportunities With Sciensus as your rare diseases consulting services partner, you can confidently expand into the European market, ensuring that patients receive life-changing treatments without unnecessary delays.
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...
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...
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...
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...
Here, we discuss the increasing opportunity for diagnosis and therapy of rare diseases and how to tackle the associated challenges.doi:10.1038/nrd.2017.246Boycott, Kym M.Ardigó, DiegoNat Rev Drug DiscovNature Reviews Drug Discovery
Background: Caregiving experiences in rare diseases (RDs) vary based on factors such as specific clinical entity, disease severity, the child’s age, and available support and resources, leading to challenges that significantly impact caregivers’ lives. This study investigates whether caregivers of ch...