Latest news with #geneticDisorders
The Guardian
6 hours ago
- Health
- The Guardian
UK sickle cell patients ‘get worse care than sufferers of similar disorders'
People living with sickle cell disease face substandard care as its treatment significantly lags behind advances relating to other genetic disorders such as cystic fibrosis, a report has found. The study, commissioned by the NHS Race and Health Observatory and carried out by researchers at Imperial College London, analysed various measures of care for sickle cell disease between 2010 and 2024, including clinical trials, approved drugs and reviews of existing studies. The findings indicated that sickle cell care across the UK does not have parity with other genetic disorders, such as cystic fibrosis, with there being only 0.5 specialist nurses per 100 patients for sickle cell, compared with two per 100 for cystic fibrosis. The report also found that there is 2.5 times more research funding for cystic fibrosis than for sickle cell, meaning the former has more treatment options and breakthrough drugs than the latter. Evidence of substandard care for people with sickle cell was also found, with 20% of babies with the condition not being seen by a specialist by three months of age, despite the NHS screening programme guidelines that 90% of babies should be seen by this milestone. Prof Habib Naqvi, the chief executive of the observatory, said sickle cell care 'significantly lags behind' that for other rare genetic conditions. He added: 'These inequalities are stark and, despite being a common genetic disorder, sickle cell has endured years of inadequate attention and investment that has resulted in the experiences we then see play out for people living with the condition. 'We do highlight the stark inequalities that exist for people with sickle cell in comparison with other rare conditions, but we also offer evidence-based solutions for meaningful change.' The report also found that these disparities in care for people with sickle cell disease were not due to a lack of need, given that hospital admissions for sickle cell rose by 42% between 2013 and 2022. These disparities exist despite the fact sickle cell disease is just as prevalent as other rare genetic disorders. The disorder primarily affects people from an African-Caribbean background. In England, about 17,000 people are living with the disease, an inherited blood disorder, with 250 new cases a year. Sickle cell disease changes the shape of blood cells into crescents, hindering blood flow. People with the condition experience severe painful episodes, which can require hospital admission. Approximately 11,000 people in the UK have cystic fibrosis, a condition which causes breathing and digestive problems due to mucus. The median age of death for sickle cell is 47. For cystic fibrosis, it is 48. John James, the chief executive of the Sickle Cell Society, said the landmark report 'makes it impossible for anyone to ignore the existence of deep inequalities faced by people with sickle cell – in healthcare, research funding and wider recognition'. He added that the findings were sobering. 'It is unimaginable that these disparities have, beyond all reason, continued for so long. 'However, by analysing how other long-term conditions are supported and resourced, it is clear to see the tangible difference that investment in healthcare makes.' Prof Bola Owolabi, NHS England's director for the National Healthcare Inequalities Improvement Programme, said: 'It is unacceptable that people with sickle cell disease face worse outcomes than those with other conditions, which is why the NHS England has stepped up with its sickle cell and thalassemia quality improvement project. 'Patient care has also been boosted by introduction of digital care plans so they don't need to repeat their stories to healthcare staff, and we have launched a campaign to boost awareness of key signs and symptoms of the disorder called Can You Tell It's Sickle Cell?'
CTV News
9 hours ago
- Health
- CTV News
Calgary teen trying to develop a way to prevent genetic defects before birth
Logan Cyr, 16, is working on a project that involves genetic editing to help prevent various genetic disorders. It's a challenge typically reserved for biologists and researchers with their master's degrees, but 16-year-old Logan Cyr is hoping to develop a way to prevent genetic malformations before birth. Cyr is in Grade 11 at STEM Innovations Academy High School in Calgary, but is also enrolled in The Knowledge Society (TKS) based out of Toronto. On its website, TKS is described as a 10-month global training program for the world's most ambitious entrepreneurs and innovators. Cyr says he had no interest in biology before getting into TKS, but now spends every available moment emersed in it 'If you could control how your brain develops during development, everyone would just have equally functional brains,' he said. 'Nobody would need to have like a memory disorder or be prone to Alzheimer's or anything like that; it's just due to getting unlucky while you're developing, it could all just be streamlined, and everyone would have the same chance at life.' Cyr's interest in the topic was prompted by his mom's recent kidney failure. She was born with one kidney, and it stopped working in 2019. She's been in hospital for the past seven months. 'This is actually the sixth time she's gone in – this time it was to get a new kidney – but it did not work, and she's been put back, and after the incision, she just hasn't fully recovered yet,' he said. Cyr says he and his sister also have genetic disorders, and he says advances in genetic editing are making it possible to correct those disorders at an early age. 'I can apply it to kidneys, so I can prevent kidneys from not forming when you're still in the fetal phase,' he said. 'So, someone like my mom, where she was only born one kidney, that's because the kidney had a mutation and then either didn't become a kidney or died, so that cell just never became a kidney like it was supposed to.' Azar Chatur is a director and coach at KTS, and says in Calgary there are close to 70 students enrolled in the program. 'We are the top youth innovation program for students who are between the ages of 13 and 18-years-old who are still in high school or middle school,' he said. 'We help students work on projects that they're really passionate about, excited about.' Chatur says TKS is a benefit to students who are curious – and not just focused on achieving good grades in the school system. 'Most teenagers are really focused on grades and trying to get a certain grade because they have to get the grade to graduate from high school, and get into university, and things like that,' he said. 'But what that does is that limits their ability to be creative and explore things.' Chatur says Cyr is the perfect candidate for the program, and example of how a student can achieve great things when they put their minds to it. 'Logan's a very smart young man,' he said. 'I think where TCS really helped him was with giving him that sense of direction, as well as just the belief that he can solve problems that are really important to him.' Cyr says advancements in genetic editing are being made every minute, and he says what's being developed now is not far off from science fiction, even the Tony Stark character and the technology he used to create Iron Man. 'Let's say your baby has very weak lungs – maybe your baby has asthma and he's having issues breathing – so the doctor can go walk over and consult their coworker who could go on a tablet, they can 'Tony Stark' their whole toehold sensor for this specific application right there on site,' he said. 'And produce a solution for this specific case right there for that specific patient.'
