
Research
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Research into the causes of Klippel-Feil Syndrome:
Klippel-Feil syndrome (KFS) is a complex skeletal disorder characterized by congenital fusion of vertebrae within the anterior/cervical spine (Clarke et al. 1998; Tassabehji et al. 2008).
The KFS Research Program directed by Dr Raymond A. Clarke (Raymondclarke.info) from St George Hospital in Sydney has confirmed a role for the GDF6 gene in the aetiology, diversity and variability of KFS (Types I-III) (Tassabehji et al 2008). You can help the research (You can Help).
Dr Clarke has developed a genetic test for KFS and the search is underway for other KFS genes
( r.clarke@unsw.edu.au).
The possibility of using GDF6 for spinal disc regeneration is being investigated.