Author: Catherine Despot

NOT all in the family: Tackling rare genetic diseases that aren’t inherited

Finding the genetic cause of a non-inherited disorder is a challenge–especially when the gene is abnormal in only some of a person’s cells.

How do you find the genetic cause of a disease that doesn’t appear to be inherited, presents with a variety of symptoms—and has been diagnosed in just a few hundred people worldwide? Add to that the fact that the genetic defect occurs in only a portion of a patient’s cells, and a formidable challenge emerges.

As a team of researchers from Boston Children’s Hospital has discovered, and as is true in many rare diseases, depth and breadth of clinical experience can prove pivotal.

It all started in 2006. That’s when, after poring over years’ worth of patient records and photos, Ahmad Alomari, MD, an interventional radiologist at Boston Children’s and co-director of its Vascular Anomalies Center, defined a condition he called CLOVES syndrome. CLOVES is complex and looks somewhat different in every patient, causing a combination of vascular, skin, spinal and bone or joint abnormalities. It’s a rare and progressive disease for which no known cure or “one-size-fits-all” treatment exists.

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