Finding SupportThrough Advocacy Organizations Patient advocacy organizations play a vital role in helping people with rare diseases live their best and fullest lives. We can help you find one or even start your own. Find your rare disease community...
Rare but Strong Together is the 2012 Rare Disease Day slogan. The NEI stands strong with rare disease patients and their families and is committed to providing research support and leadership for finding new treatments and cures for rare eye-related diseases. During Rare Disease Day,...
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 ...
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 ...
et al. Genome sequencing as a generic diagnostic strategy for rare disease. Genome Med 16, 32 (2024). https://doi.org/10.1186/s13073-024-01301-y Download citation Received21 September 2023 Accepted02 February 2024 Published14 February 2024 DOIhttps://doi.org/10.1186/s13073-024-01301-y ...
Finding SupportThrough Advocacy Organizations Patient advocacy organizations play a vital role in helping people with rare diseases live their best and fullest lives. We can help you find one or even start your own. Find your rare disease community...
Here's more on the genetic disease that contributed to Gottfried's death. What is myotonic dystrophy type II? According to the Genetic and Rare Diseases Information Center, which a part of the National Institutes of Health (NIH),myotonic dystrophy type IIis one of two types of myo...
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 ...
In aggregate, these data and the co-segregation data in the family support the concept that both alleles may be necessary for the development of the phenotype in the family, but contribute differentially to disease susceptibility, with the KDR-p.(Gly537Arg) variant having a larger effect than ...