A SMALL SKIN BIOPSY COULD SPARE PATIENTS A MORE INVASIVE TEST.
Functional testing on skin cells helped close difficult mitochondrial-disease diagnoses across samples from more than 30 medical centres.
One of the largest studies of mitochondrial functional testing found that cells grown from a small skin biopsy can often deliver the evidence clinicians need when genetic testing is inconclusive.
WHAT HAPPENED
The study evaluated samples from more than 30 medical centres across North America, Europe and Australia/New Zealand. Genetic testing identifies a definitive cause in only about 50% to 65% of suspected cases. The researchers found that a broad panel of functional tests on fibroblasts can distinguish many affected patients without immediately turning to muscle or liver tissue.
WHY THIS IS HOPESLOP
Rare-disease diagnosis can become an ordeal of uncertainty and procedures. This work does not make every hard case simple, but it shows that better laboratory evidence may let many families trade a deeply invasive biopsy for a small skin sample and a clearer answer.
ORIGINAL SOURCEChildren’s Hospital Colorado / EMBO Molecular MedicineRead the original report
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