Scrutinizing variant effects in these membraneless organelles could refine prioritization, enhance diagnostics, and unveil the molecular underpinnings of rare diseases. Integrating comprehensive genome sequencing, transcriptomics, and computational models can unravel variant pathogenicity and disease mechanisms, ...
In China, rare diseases affect over 20 million people, with the impact of these conditions highlighted through Rare Disease Day and the story of a young girl in Shenzhen with Tuberous Sclerosis Complex. High treatment costs...
How has rare disease care changed over the last few years? And what might we expect from the next five? We attended the Rare Disease Day Virtual Parliamentary Event to find out. The rare disease community has a golden opportunity to transform the way car
Sobi is dedicated to developing and delivering innovative therapies to improve the lives of rare disease patients.
Developer Alexion AstraZeneca Rare Disease; AstraZeneca Class Anti-inflammatories; Antithrombotics; Eye disorder therapies; Monoclonal antibodies; Urologics Mechanism of Action Complement C5 inhibitors Orphan Drug Status Orphan designation is assigned by a regulatory body to encourage companies to deve...
Making these strides forward is only possible through partnering with patient and professional communities and Rare Disease Day plays a vital role in advancing these processes. Improving knowledge around rare diseases can help educate and empower patients to join us in drivin...
Public health impacts of INoPSU 01-Aug-2009 Rare childhood diseases: how should we respond? 01-Jun-2008 Beyond counting cases: public health impacts of national Paediatric Surveillance Units 01-Jun-2007 Rare disease surveillance: an international perspective ...
(VUS in a known disease gene, novel disease gene or non-coding variant) and (ii) detection (missing second variant in a recessive disorder, causative variant lies in difficult to sequence region or is masked due to biases in reference genome and genomic datasets). In Fig.2, we summarize ...
“FCS is an ultra-rare and debilitating disease. Our disappointment extends to the patient and physician community who currently do not have a treatment available to them.” The FDA decision comes as a surprise after the FDA Advisory Committee voted 12-8 to support approval of the drug in May...
Myiasis is the infestation of live human and vertebrate animals with maggots that feed on the host's dead or living tissue, depending on the life cycle of the fly. It is a rare condition and often misdiagnosed. Tropical and subtropical regions of the world are commonly affected. The aim of...