We all have our lumps, the quirky features we develop with time.
Some of these are bone spurs, extra growths of bone.
These can be caused from damage to joints, like the lumpy joints seen in elderly people with arthritis. Bone spurs from differing causes can develop in many parts of the body, spine, toes, heel and hands.
Most bone spurs are associated with damage and old age, but some have genetic origins.
Figure 1A from Sobreira et al. (see Reference)
Metachondromatosis is a rare disorder that affects bone growth, where benign bone tumours produce lumps, mostly on the hands and feet.*
These lumps develop in children, with some of them reducing or resolving over time, others persisting.
Nara Sobreira and her colleagues set out to find genes that might cause this disease using a new approach that exploits sequencing of the whole genome of one patient.
Genetic changes that cause a disease can be as small a changing a single base in the roughly three billion bases in our DNA.
We have many, many differences that make us unique.
The art of locating the cause of a genetic disease is to determine which of those many changes from a lot of DNA is the one that has a role in causing the disease.
