Beales analyzes the underlying characteristics of BBS and publishes a definitive set of diagnostic criteria11
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Rare and devastating ciliopathies such as Bardet-Biedl Syndrome (BBS) have no curative treatment1 and is known to cause 16 severe or life-threatening medical conditions including including visual impairment that leads to early blindness, severe life-limiting obesity, learning difficulties, life-threatening kidney abnormalities, urogenital dysfunction and post-axial polydactyly (additional digits outside little fingers or toes).2,3,4
Ciliopathies are a group of more than 40 rare inherited genetic diseases linked to more than 950 genes that impact the function of cilia,5,6 microscopic finger-like appendages that sit atop most cells in the body.7
Children with ciliopathic symptoms generally experience a “rare disease odyssey,” where patients reported to have waited five to 30 years for the correct diagnosis, with the initial diagnosis being incorrect in 40% of cases.8,9
After decades of helping people with ciliopathies to manage medical conditions without dedicated treatments, two scientists co-founded Axovia to develop one-time treatments to address the disease burden for this rare group of disorders. Studies are currently underway to assess our novel gene therapy’s potential to halt retinal degeneration and numerous neurometabolic medical conditions by modifying the underlying cause of BBS.
While there are more than 22 genes linked to BBS, we are developing our first therapy for the ~40% of people with the disorder who carry two mutations in the BBS1 gene.1,8,9 Our novel gene therapy utilizes an adeno-associated virus (AAV9) to deliver a functional copy of the faulty BBS gene in key tissues.
Victor Hernandez, PhD is a developmental biologist and Assistant Professor in Biomedical Science at Brunel University, joined the Beales Lab at UCL in 2008 to study BBS and other ciliopathies. Subsequently, Beales and Hernandez co-founded Axovia in February 2020 to develop therapies for the BBS community.
At Axovia, Hernandez leads the development of Axovia’s gene therapy pipeline to demonstrate proof of concept and efficacy.
Back to Axovia's SolutionTop ciliopathy geneticist, co-discoverer of BBS gene function and Axovia co-founder, Prof. Philip Beales MD, FRCP, FMedSci also served as the former head of Genetics and Genomic Medicine at University College London (UCL) and leads the most comprehensive research and care efforts globally for people with BBS, including:
Since 2015, Beales’ lab has been developing the basis for genetic therapies and Axovia was founded to advance these treatments for the BBS community.
Back to Axovia's SolutionWhile BBS was the first disorder to be described as ciliopathic nearly a century ago,1,10 little progress was made until Prof. Philip Beales met his first patient with BBS in the emergency room of the Royal London Hospital nearly 25 years ago.
Beales analyzes the underlying characteristics of BBS and publishes a definitive set of diagnostic criteria11
Beales co-discovers BBS gene function
Discovery that cilia dysfunction
causes BBS
Discovery that cilia dysfunction underpins skeletal dysplasias
Dr. Victor Hernandez joins the Beales Lab at UCL to study BBS and
other ciliopathies
Oxford University Press publishes Beales’ book, “Ciliopathies: A reference for clinicians”
Marshfield Clinic Research Institute launches the global Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS)
Beales’ lab at UCL begins developing Proof of Principle studies for gene therapies for ciliopathies
Axovia Therapeutics spun-out of UCL
Axovia receives FDA Orphan Disease Designation and Rare Pediatric Disease Designation for gene therapy
targeting BBS1
Axovia is acquired by Alsa Ventures
1Forsythe E, et al. Front Pediatr. 2018;6:23. 2Forsythe E, et al. Eur J Hum Genet. 2013;21:8–13. 3Mujahid S, et al. J Clin Endocrinol Metab. 2018;103:1834–41. 4Thadchanamoorthy V, et al. Cureus 2021;13:e12617. 5Braun DA, et al. Cold Spring Harb Perspect Biol. 2017;9:a028191. 6van Dam TJP, et al. PLoS One. 2019;14:e0216705. 7McConnachie DJ, et al. Am J Kidney Dis. 2021;77:410–19. 8Policy Innovation Research Unit. 2015; 9EURORDIS 2007. 10Mary L, et al. Clin Genet. 2019;95:384–97; 11Niederlova V, et al. Hum Mutat. 2019;40:2068–87. 12Waters AM, et al. Pediatr Nephrol. 2011;26:1039–56. 13Beales PL, et al. J Med Genet 1999;36:437–446.