A Step-Change in Treating Ciliopathies
The Axovia Charter
Accelerating Disease-Transformative Treatments
Initially discovered by Laurence and Moon in 1886, it took another century before Professor Beales analyzed the underlying characteristics of BBS and published a definitive set of diagnostic criteria in 1999. The discovery of the first BBS gene followed in 2000 and now stands at 22 genes – some 20 years later.
Bardet-Biedl Syndrome Discovery Timeline
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The disease was first discovered by Laurence and Moon.
Professor Beales established the first diagnostic criteria for BBS.
The first BBS gene was discovered with Professor Beales as part of the team.
Primary cilia dysfunction identified as the causation of BBS.
The first national specialist clinic for BBS opens in the UK, funded by the National Health Service.
At UCL, Prof. Beales, Dr. Victor Hernandez and team received funding from Apollo Therapeutics, enabling them to develop preclinical evidence for a viable gene therapy for BBS.
Axovia Therapeutics was formed to work towards developing the first in-human therapies for BBS, starting with BBS1.