About

Thing
A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not due to any immediate external injury.
Disease
Definition
A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not due to any immediate external injury.
Disease
Disease
A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not due to any immediate external injury.

Mentions

Based on the AveXis studies, the FDA approved Zolgensma Friday, making it only the second gene therapy ever approved for a genetic disorder. There are currently around 700 patients eligible for the treatment, according to Novartis, and roughly 30 babies are born each month with the disease.

One of Eli Lilly's drugs, Trijardy XR, was approved by the FDA this week, and top-line results were announced from a Phase 3 clinical trial for another. Trijardy XR combines three type 2 diabetes medications into one pill that, combined with diet and exercise, lowers blood-sugar levels in adults. This combination of different diabetes medications marks an important advancement in the treatment of the disease.

The program will aim to develop and evaluate next-generation genomics and informatics tools to improve the diagnosis, treatment, and prevention of disease. It will leverage available tools and recent research in genomic technologies, computation, and data science, as well as large genomic datasets, DNA from hundreds of thousands of participants collected and stored in biobanks, and electronic health records.

DNA sequencing was still very expensive and rare at the time, but Mangubat and her cofounders at Spiral Genetics anticipated a day when the cost of sequencing a genome would drop enough to allow scientists to sequence hundreds of thousands or millions of human genomes, whole populations, and compare them to learn about disease. To analyze such a volume of data, with the technology of the time, would have been prohibitively difficult and time-consuming, Mangubat predicted. Her company aimed to leverage cloud-based computing to crunch those huge gene sets, taking a fraction of the time.

See also

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