A University of Cambridge geneticist has said the institution has \u201cprobably learned nothing\u201d from the controversy surrounding Spectrum 10K, the abandoned autism study which looked to analyse the DNA of 10,000 autistic people.<\/p>\n
Launched in August 2021, the project from Cambridge\u2019s Autism Research Centre (ARC) sought the genetic data to understand how genes and the environment can influence an autistic person\u2019s wellbeing.<\/p>\n
It was paused a month later following concerns from the autism community, with researchers committing to a public consultation with advocates to discuss the study further.<\/p>\n
The three-stage consultation process, overseen by independent consultancy Hopkin Van Mil, concluded with the publication of the third and final report in January, at which point the ARC confirmed the study would be shut down<\/a>.<\/p>\n The latest criticism of the project, from Professor Anna Middleton of the Kavli Centre for Ethics, Science, and the Public, was issued at the British Deaf Association\u2019s (BDA) annual conference in Leeds on Thursday, after Liam O\u2019Dell asked what the deaf community could learn from how the autism community mobilised around the Spectrum 10K project.<\/p>\n Explaining that she also \u201ccampaigned against\u201d the study, she said: \u201cI would argue that Cambridge University has probably learned nothing from that, and the press release that they put out after the project was stopped says \u2018well other people will just do this research now\u2019.\u201d<\/p>\n In its statement on the future of Spectrum 10K which published at the start of the year, the ARC said \u201cthe science related to autism has advanced considerably\u201d since the study application was first written in 2020, and during the time in which the project was paused.<\/p>\n \u201cWhereas our intention had been to create a database with 10,000 DNA samples related to autism health research, there are now other very large health and genetic databases in the UK and internationally that have become available as a resource for autism health research.\u00a0<\/p>\n \u201cThis means that we no longer need to collect new DNA samples as we can use existing health and genetic databases to better understand the health challenges faced by autistic people,\u201d it said.<\/p>\n Middleton continued: \u201cSo I would argue that we should all join forces together. The autism community mobilised themselves very, very quickly. <\/p>\n \u201cThere are other communities out there who want to say something about diversity, and celebrating diversity, stopping the progress of genetics, and I think it\u2019s really important that people join together, because one single community, it\u2019s very difficult on your own, but if you join together, it\u2019s a more powerful force.\u201d<\/p>\n The University of Cambridge has been approached by this website for comment.<\/p>\n Middleton, along with partially deaf CODA (Child of Deaf Adults) Yolande Dennis, were invited by the BDA to share information on deafness and genetics after being contacted by the charity to help the organisation with writing their new policy in this area.<\/p>\n In a video from a workshop on genetics, shared during the pair\u2019s session, BDA policy lead Tom Lichy was seen saying: \u201cPrior to this discussion today, things were not clear, complicated. Now we are starting to see the bones of how the BDA policy and genetics can be developed.<\/p>\n \u201cWe are mindful that it needs to be simple, clear, supportive and collaborative, developed in discussion with the deaf community.\u201d<\/p>\n Lichy, alongside Middleton, Dennis and fellow BDA policy lead Graham Turner, co-authored correspondence published in The Lancet<\/a> in May commenting on gene therapies for deafness. writing that the proposition of such therapies for deaf children \u201crisks overlooking the genuine enrichment that Deaf culture and language can offer\u201d.<\/p>\n This came a year after a baby girl, named Opal Sandy, made headlines<\/a> after she received a gene therapy at Addenbrooke\u2019s Hospital in Cambridge to treat her auditory neuropathy \u2013 a disorder which can be caused by a variation in the otoferlin gene, which means hair cells in the inner ear cannot communicate with the auditory nerve.<\/p>\n However, while Cambridge University Hospitals NHS Foundation Trust claimed at the time<\/a> that Opal had \u201cclose to normal hearing levels for soft sounds\u201d at 24 weeks, and news outlets reported claimed the child had been \u201ccured\u201d of her deafness, an investigation by this website<\/a> cast doubt on the true extent of Opal\u2019s hearing.<\/p>\n Despite this, Middleton said it is \u201cvery likely\u201d that the otoferlin gene therapy will \u201ccompletely cure\u201d the deafness caused by the genetic variation.<\/p>\n She said: \u201cOtoferlin is important now because gene therapy to treat this type of deafness is now available on the NHS. This means that this type of deafness is likely to be fully cured.<\/p>\n \u201cIt is possible that in the future, other deafness genes can be fixed by gene therapy.\u201d<\/p>\n The geneticist also explained that under the Human Fertilisation and Embryology Act 2008, \u201conly hearing embryos are legally allowed to be implanted in the mother\u201d.<\/p>\n