A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is ...
Researchers have created an artificial intelligence model that can identify which mutations in human proteins are most likely ...
When our son Peter was diagnosed with an ultra-rare form of muscular dystrophy at the age of 10, the first question we asked was: Is there a treatment? The answer was no. By the time our daughter ...
Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...
Dr. Jennifer Adams, whose daughter was diagnosed at 18 months with PH1, calls Oxlumo a "life-changing medication." As a result, her daughter's "quality of life has improved, hospital visits were ...
Misdiagnosis or underdiagnosis of rare diseases in patients with diagnoses of common diseases can lead to delayed or inappropriate treatments, thereby complicating the management of both rare and ...
Rare Disease Day raises awareness for the thousands of rare diseases affecting millions. Advancements in technology, such as gene therapy, offer hope for potential cures for rare diseases in the ...
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