OBJECTIVE: Economic assessments of newborn screening programs for rare diseases involve the use of models and require huge efforts to synthesize information from different sources. Sharing and automatically or semi-automatically reusing this informat...
BMC medical informatics and decision making
Feb 14, 2019
BACKGROUND: Existing resources to assist the diagnosis of rare diseases are usually curated from the literature that can be limited for clinical use. It often takes substantial effort before the suspicion of a rare disease is even raised to utilize t...
Genetics in medicine : official journal of the American College of Medical Genetics
Jan 24, 2019
PURPOSE: Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the current diagnostic rate is still far from satisfactory because of heterogeneity, imprecision...
BACKGROUND: Conversion of human somatic cells into induced pluripotent stem cells (iPSCs) is often an inefficient, time consuming and expensive process. Also, the tendency of iPSCs to revert to their original somatic cell type over time continues to ...
BACKGROUND: The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical...
AMIA ... Annual Symposium proceedings. AMIA Symposium
Dec 5, 2018
Rare diseases, although individually rare, collectively affect one in ten Americans. Because of their rarity, patients with rare diseases are typically left misdiagnosed or undiagnosed, which leads to a prolonged medical journey. The diagnosis pathwa...
Computer methods and programs in biomedicine
Jul 20, 2018
BACKGROUND AND OBJECTIVE: There is a huge amount of rare diseases, many of which have associated important disabilities. It is paramount to know in advance the evolution of the disease in order to limit and prevent the appearance of disabilities and ...
Narcolepsy is a rare life-long disease that exists in two forms, narcolepsy type-1 (NT1) or type-2 (NT2), but only NT1 is accepted as clearly defined entity. Both types of narcolepsies belong to the group of central hypersomnias (CH), a spectrum of p...
OBJECTIVE: Death certificates are an invaluable source of cancer mortality statistics. However, this value can only be realised if accurate, quantitative data can be extracted from certificates-an aim hampered by both the volume and variable quality ...
In the USA, rare diseases are defined as those affecting fewer than 200,000 patients at any given time. Patients with rare diseases are frequently misdiagnosed or undiagnosed which may due to the lack of knowledge and experience of care providers. We...