Showing 2 ideas for tag "rare-cancers"
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What treatments can be adopted from similar mutations and adenocarcinomas to urgently treat advanced Gallbladder Cancer?

GBC is the most common biliary cancer, most often symptomless until metastasized. Young and otherwise healthy people are getting shocking stage 4 GBC diagnoses, only to be told that there are no treatment options besides one palliative protocol of debilitating chemotherapy. We need a clinical trial that carefully considers the specifics of advanced GBC patients and urgently applies strategies from related mutations (KRAS... more »

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AoU Research Priorities Use Cases

What genetic markers can lead to early diagnosis of late-onset rare diseases (Huntington, Crohn, CMT, ALS, etc.)?

Most rare diseases, defined as those affecting fewer than 200,000 people, are genetic disorders with signs observable at birth or in childhood. However, a number have adult-onsets, such as Crohn, Charcot-Marie-Tooth, ALS or thyroid cancer. Of this subset, many have not been linked to a single genetic mutation or origin and similarly, do not have a usable biomarker for early diagnosis. Are there any genetic markers that... more »

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