Dr Stickler is VERY busy compiling the data and will be reporting to the SIP conference in June. There are many Stickler syndrome History Making events included for your knowledge. As you may know the National Institutes of Health is in the second year of a 5 year connective tissue disorder study.
Stickler syndrome is one of three syndromes being studied.
These are the cells that eventually make bone and cartilage, and are thought to be the cells that will be the targets for gene therapy in Stickler syndrome and related disorders. Doug Wilkin has been a approached by the NIH group that studies these cells, and asked to lead the NIH effort. SIP will miss him, as a part of the Stickler study, AND we are very excited that he will take our work with him. As a result of the NIH studying Stickler syndrome, one medical journal article has already been published, determining that there is a fourth gene mutation for Stickler syndrome. Correlation of Linkage Data with Clinical Features in Eight Families with Stickler Syndrome.