A young boy was transferred to the Children’s Hospital of Philadelphia to receive palliative care for a mysterious illness. The boy’s body was producing so much lymphatic fluid that his legs were swelling, he was having difficulty breathing, and there was a build up of lymphatic fluid around his heart, but there was no clear diagnosis.
Researchers from the hospital’s Center for Applied Genomics set about finding the genetic cause of the lymphatic disorder. They found an abnormality in the ARAF gene on the X chromosome, which had never previously been linked to lymphatic abnormalities. ARAF makes an enzyme which can cause cells to proliferate if too much is created. The researchers suspected that in the patient’s case the extra enzyme was causing his lymphatic vessels to grow unchecked.
To confirm this was correct, the team bred genetically engineered zebrafish that had the same ARAF gene mutation as the patient. The fish developed lymphatic vessels that grew and grew just like the patient, proving that the mutation was responsible. The zebrafish were then treated with different drugs to see which ones might be effective in saving the young boy’s life. Trametinib, a drug used in melanoma patients, was effective in stopping lymphatic vessel growth in the fish, so the team asked for FDA approval to treat their patient with the drug.
Source: STAT news
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