This press release is available in French.
Using genome-wide analysis, investigators at the Sainte-Justine University Hospital Research Center and the University of Montreal have potentially eliminated a lifetime drug prescription that two children with a previously unknown type of adrenal insufficiency had been receiving for 14 years. Over a lifespan, the adjustment in treatment represents an approximate saving of $10,000 in drug and test costs per patient. Moreover, the less invasive treatment regime can potentially reduce the lifetime risk of hypertension in the patients. "This is a real case of personalized medicine made possible today through the use of novel techniques in genomics," stated Dr. Mark Samuels, lead author of a paper published on the subject in January 2013 in the Journal of Clinical Endocrinology and Metabolism. Dr. Johnny Deladoy was the senior author of the article.
Fourteen years ago both children were diagnosed with adrenal insufficiency, a condition that occurs when the adrenal glands do not secrete enough hormones to control sugar and mineral levels in the blood. After having sequenced the part of the genome that codes for genes in one patient, the investigators identified mutations in POMC, the gene behind the disorder. They then showed that the disorder in the second patient was also caused by a similar mutation in the gene POMC. Identifying the causal gene allowed them to conclude that the only thing missing in the patients was the production of cortisol, the hormone that regulates blood sugar. They thus advised the patients to continue cortisol treatment, but that fludrocortisone treatment was unlikely to be necessary. So far, fludrocortisone has been stopped in one patient without any adverse effects, while the condition of the second patient is still being evaluated.
In addition to reducing the risks of hy
|Contact: William Raillant-Clark|
University of Montreal