Biology Presentation on Fibrodysplasia Ossificans Progressiva (March 2015)

In biology, as we were studying genetics at the time, our teacher asked if any of us wanted to give presentations on genetic disorders. I decided to produce one on the disease that I had discovered from seeing the skeleton of Mr Jeffs at the Hunterian Museum. I was limited to ten minutes, but still managed to go into quite a lot of detail.

Here are my PowerPoint slides:



I first became fascinated by the disease when I went to the Hunterian Museum and saw the skeleton of Mr Jeffs, although I found his neighbour, the Irish Giant, more interesting until many years later.


Around 700 cases recorded worldwide. Falls and trauma can act as catalyst for further ossification. Sufferers eventually have to make the awful decision of what posture to adopt for the rest of their life, as they are “frozen” into place.


Patients often given treatment for cancer, which just gives them unnecessary side-effects.


In 1965 orthopaedic surgeon Marshall Urist found that small scraps of dead bone without minerals placed in the muscles of live rabbits led to growth of new bone. He speculated this was caused by chemicals in the bone called bone morphogenetic proteins (BMPs). Damaged muscle or connective tissue incorrectly express an enzyme for bone repair during apoptosis/autolysis, resulting in lymphocytes containing far too much BMP4 provided during the immune system response.


The disease is more severe in patients with a homozygous dominant than heterozygous genotype. Although many can’t/don’t want to have children, it is possible that 2 heterozygous affected parents can have an unaffected child.


Surgery and injections cause inflammation, triggering further bone growth. Most people avoid medical intervention until the condition becomes acutely life-threatening. A team of scientists in 2008 showed that a chemical derivative of dosomorphin called LDN-193189 blocked ACVR1 so well that it reduced bone formation in mice that had been genetically engineered to have FOP. This chemical reduced the activity of several BMP receptors, including ACVR1.


I ended with this shocking slide to indicate the progression of the disease. By the time Eastlack died, 6 days before his 40th birthday, he could move only his lips.


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