Medical Journal News

This week, The Lancet publishes a first-in-human interventional study of gene supplementation therapy for children with AIPL1-associated retinal dystrophy, which causes severe impairment of sight from birth. The four children in the study showed improved functional vision without serious adverse effects. Inherited retinal diseases (IRDs) affect 5–6 million people worldwide and are a heterogenous group of diseases caused by mutations in over 300 mapped genes responsible for the structure and function of retinal cells.

Inherited retinal dystrophies are a genetically heterogeneous group of disorders that cause vision loss through degeneration or dysfunction of retinal photoreceptors. Gene-based therapies aim to correct the underlying molecular defect to arrest further degeneration or to ameliorate the dysfunction. Large improvements in vision have been reported in early phase clinical trials of gene-based therapies for some inherited retinal dystrophies characterised by functional defects with preservation of cellular architecture,1–4 and one gene therapy, voretigene neparvovec, has received regulatory approval.

Ahead of the fourth UN High-Level Meeting on NCDs, the focus is shifting to Africa, with the Global NCD Alliance Forum held in the region for the first time. Jacqui Thornton reports.

Infection rates have soared over the past 15 years, but political changes have rejuvenated services for key populations and HIV prevention. Sharmila Devi reports.

“I think our society holds this nihilistic view that cancer is an inevitable part of being human”, says Sarah Blagden, Professor of Medical Oncology and Clinical Director of the Oncology Clinical Trials Office in the Medical Sciences Division of the University of Oxford, UK. “But we’re starting to get to a point where we can predict when cancer is going to appear, and actually be able to intervene and prevent it. And this will inevitably transform the way we perceive this disease.”

“I’m telling you, life is chaotic, complicated, and unjust”, world-weary paramedic Olaf (Bernhard Schütz) tells his young colleague Olivia (Samirah Breuer). This is more or less the thesis of Apple TV+'s new medical drama Berlin ER. The show's title in its native Germany, Krank Berlin, gives the viewer a better idea of what to expect. This is not just a show about physical and mental illness; it is also concerned with the social maladies present in the Kreuzberg-Neukölln area of the city, Berlin, and Germany as a whole.

When J D Harris (1833–84) began studying medicine in 1863, there were few African American doctors whose paths he could follow. The first university-trained African American physician, James McCune Smith (1813–65), had studied abroad, graduating at the University of Glasgow in 1837. After Smith's triumph and before the Civil War of 1861–65, American medical schools remained reluctant to admit Black students, even as they routinely dissected stolen Black cadavers. Those few Black students who gained admission to medical school were sometimes even required to emigrate to Liberia to practise after graduating.

It began one hot summer morning as I awoke in the thorny embrace of brambles in a hedge on the South Downs, UK. The bicycle between my legs had morphed from transport to sleeping pallet. Marking another lost night of my 18th year, I cycled back to work, my thoughts keenly focused on the pub reopening later that morning. While most of my peers were embracing adulthood and independence, my coming-of-age brought a succession of events that would profoundly shape my future: a head-on collision causing a 3-month memory gap (during which I sat my A-Level mocks), groomed and raped, relocation from rural life to London, and a mugging.

Spinal muscular atrophy (SMA) is a recessive condition that affects globally one in 14 800 newborns.1 Infants with SMA type 1 do not acquire motor milestones and rarely survive beyond the first year of life. Children with SMA type 2 are never able to walk independently, and most individuals with SMA type 3 lose the ability to walk before the age of 30 years. Since 2017, three treatments—nusinersen, risdiplam, and onasemnogene abeparvovec—have been approved by regulatory authorities in the USA and Europe.

Street vendors, who make up a substantial portion of the informal workforce in many low-income and middle-income countries, remain largely excluded from formal health insurance coverage, which poses a major risk to their health and financial wellbeing. Despite their key economic role, street vendors often do not have the legal recognition, stable income, and collective bargaining power required to access public or private health insurance schemes.1

We are writing to respond to comments from Joshua W Miller and colleagues1 regarding our 2024 report of the Lancet standing Commission on dementia prevention, intervention, and care.2 Miller and colleagues propose adding homocysteine to the list of potentially modifiable dementia risk factors, citing a 2013 post hoc analysis of data from the VITACOG trial.3 This analysis suggested that lowering homocysteine concentrations through vitamin B supplementation reduced atrophy in a subgroup of people with mild cognitive impairment.

Gill Livingston and colleagues report an updated combined population attributable fraction (PAF) of 45% for modifiable dementia risk.1 This statistic provides important direction for risk reduction and will receive much attention.

I read with interest the Dementia prevention, intervention, and care: 2024 report of the Lancet standing Commission by Gill Livingston and colleagues.1 The authors present an updated meta-analysis on the association between hearing loss and dementia, reporting a pooled hazard ratio (HR) of 1·37 (95% CI 1·00–1·87), which is lower than previous estimates (1·9; 1·4–2·7).2

In the Dementia prevention, intervention, and care: 2024 report of the Lancet standing Commission, Gill Livingston and colleagues identify a final set of 14 modifiable risk factors for delaying or preventing dementia.1 However, although sleep was discussed, it was not included in this final set.

We read with great interest the Dementia prevention, intervention, and care: 2024 report of the Lancet standing Commission.1 Although the report offers valuable insights, we believe it overlooks the substantial role of oral health in dementia risk.

We are pleased that our 2024 Lancet Commission's1 discussion of dementia risk has prompted international interest. Within it, we have been transparent about the assumptions behind our new population attributable fraction (PAF) calculations and present the best current estimates. These estimates will continue to change with new research and adjustments in the way people live. We discuss other risk factors that might be included in the future as stronger evidence emerges, but which have not yet reached the consistent, high-quality evidence threshold for inclusion.

Our findings indicate that young children with AIPL1-related retinal dystrophy benefited substantially from subretinal administration of rAAV8.hRKp.AIPL1, with improved visual acuity and functional vision and evidence of some protection against progressive retinal degeneration, without serious adverse effects.

Schistosomiasis is a neglected tropical disease caused by infection with blood flukes of the genus Schistosoma. Widely distributed in the Middle East, southeast Asia, Latin America, and (mostly) sub-Saharan Africa, schistosomiasis is acquired upon skin penetration of infective larvae released by freshwater snails. Acute infection might present with self-limiting hypersensitivity reactions (known as Katayama fever). Chronic infection typically leads to two main clinical patterns: intestinal or urogenital schistosomiasis, depending on the infecting species.