Shattering News: How Chromothripsis Cured a Rare Disease

Caption: Karyotype of a woman spontaneously cured of WHIM syndrome. These chromosome pairings, which are from her white blood cells, show a normal chromosome 2 on the left, and a truncated chromosome 2 on the right.
Source: National Institute of Allergy and Infectious Diseases , NIH

The world of biomedical research is filled with surprises. Here’s a remarkable one published recently in the journal Cell [1]. A child born in the 1950s with a rare genetic immunodeficiency syndrome amazingly cured herself years later when part of one of her chromosomes spontaneously shattered into 18 pieces during replication of a blood stem cell. The damaged chromosome randomly reassembled, sort of like piecing together a broken vase, but it was still missing a shard of 164 genes—including the very gene that caused her condition.

Researchers say the chromosomal shattering probably took place in a cell in the bone marrow. The stem cell, now without the disease-causing gene, repopulated her immune system with healthy bone marrow-derived immune cells, resulting in cure of the syndrome.

How is this possible? The research story begins a couple of years ago when the woman, now 59, contacted researchers at NIH’s National Institute of Allergy and Infectious Diseases (NIAID), who study a rare immunodeficiency known as WHIM syndrome. The woman reported that she and two of her daughters had the autosomal dominant disorder.

It isn’t every day that researchers get a call out of the blue from someone with WHIM syndrome: fewer than 60 cases have been diagnosed worldwide over the past 50 years.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.