1 According to the NIH, there are more than 7000 rare diseases in the United States, affecting more than 30 million—approximately 1 in every 10—people in the country.2 Given that February is Rare Disease Month, it seems appropriate to discuss how a physician or scientist may go about ...
National Institutes of Health (NIH) to develop drugs for rare diseases. The new NIH project attempts to organize its own pipeline of facilities and cooperating academic researchers to carry preclinical and clinical testing. According to Stephen Groft, director of the NIH Office of Rare Diseases ...
Orphanet Journal of Rare Diseases 2024, 18(1): P9 The Patient Lifestyle and Disease Data Interactium (PaLaDIn), is an ambitious four-year Innovative Health Initiative (IHI) funded initiative which launched on 1st January 2024. PaLaDIn [https://www.project-paladin.eu/] will drive innovative re...
This annual event aims to provide a basic understanding of important and generalisable concepts of rare disease medicine through a short afternoon of lectures. It has been popular and well-received, with a 2024 Net Promoter Score of 62. This concept was the precursor to development of the e-...
Analysis of 5,041 health traits from the UK Biobank (UKB) found relationships between CHIP and severe COVID-19 outcomes, cardiovascular disease, haematologic traits, malignancy, smoking, obesity, infection and all-cause mortality. Longitudinal and Mendelian randomization analyses revealed that CHIP is ...
We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 ...
Protheragen specializes in providing a range of preclinical research services for rare disease research, addressing many of the challenges encountered in drug discovery and development. Its end-to-end rare disease therapy development solutions cover a full package of the...
Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial and maximal doses. We aim...
Nat Rev Genet 25, 401–415 (2024). https://doi.org/10.1038/s41576-023-00683-w Download citation Accepted22 November 2023 Published18 January 2024 Issue DateJune 2024 DOIhttps://doi.org/10.1038/s41576-023-00683-w Subjects Disease genetics DNA sequencing Genetic testing This article is cited...
following heart-lung transplantation revealed the presence of plexiform lesions. Two of the proband’s offspring were also diagnosed with childhood-onset PAH, one of which had an atrial septal defect. The proband’s parents, siblings and a third child showed no evidence of cardiovascular disease. ...