From the BBC
From his death in 1890 and for most of the 20th century Joseph Merrick, otherwise known as the Elephant Man, was thought to have suffered from neurofibromatosis type 1, a disease upon which his case typified. However, research in the 1980s proposed that Merrick suffered from Proteus Syndrome instead and later research has questioned whether he was afflicted with both. It looked as if the syndrome Merrick defined was not the syndrome he may have had.
The early 2000s saw DNA testing on hair samples and bones samples that proved inconclusive due to the influence of preservation techniques. Professor Richard Trembath, vice-principal for health at Queen Mary University of London, and the custodian of Merrick’s body explains the problem.
“The skeleton, which is well over a hundred years old now, is actually very clean. This represents a significant problem. On a number of occasions over the years the skeleton has been bleached during the preservation process. Bleach is not a good chemical to expose DNA to. It gives us an added problem in trying to extract sufficient quantities of DNA in order to undertake sequencing.”
Currently, Dr Michael Simpson from King’s College London is tackling the problem of extracting useful DNA from Merrick’s bones.He is working on new techniques of DNA extraction from sample bones of the same age that have been bleached.
The hope is that new techniques can verify exactly what syndrome/s Merrick had and possibly discover a well documented case where the patient suffered from two in dependant syndromes.