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Genetics
World-first gene therapy for London baby with rare disease
A baby boy with an extremely rare genetic disorder is making “incredible” progress after becoming the first infant to receive a new gene therapy...
Ovarian cancer screening test less effective for black women, review finds
A common test for ovarian cancer may be less effective on black and Native American patients, a review of more than 200 000 patients...
Scientists inch closer in eternal quest to reverse ageing
Can reprogramming our genes make us young again? A breakthrough in longevity research may be nearing its first human trials.
For those hoping to cure...
Gene therapy improves sight in paediatric blindness
A pioneering genetic medicine has delivered life-changing improvements in sight to four children born with severe vision impairment from a rare genetic deficiency that...
Risks and benefits of human genome editing unpacked in Australian study
Scientists know about tens of thousands of DNA variants that are associated with human diseases. On their own, the vast majority of these variants...
US dementia cases may double by 2060, study finds
In a worrying prediction, scientists say the risk of developing dementia anytime after age 55 among Americans is 42% – especially for women, blacks...
Despite ethics changes, GM babies still illegal in SA
South African scientists who reacted with concern to a recent change in the country’s research guidelines have been reassured that the creation of genetically...
‘Deep brain’ genes tied to Parkinson’s, ADHD – large global study
A massive team of international scientists has shed light on how 254 genetic variants can affect the development of particular subcortical structures, potentially influencing...
Heart defect risk for babies conceived through IVF – Swedish study
Babies conceived through certain fertility treatments, including in vitro fertilisation, are more likely to have major heart defects, although cases are still rare, researchers...
Genetic screening of 100 000 babies under way in NHS study
More than 500 blood samples have already been taken from newborn babies at 13 NHS hospitals in a major study that will screen the...
Experimental drug signals hope for Fragile X syndrome
A new, experimental drug is helping to the change the lives of people with the genetic condition Fragile X – which often causes autism...
Scientists find proof of Reelin protein’s anti-Alzheimer value
A key protein that helps assemble the brain early in life also appears to protect it from Alzheimer’s and other diseases of ageing, although...
European experts identify genes which increase severe Covid risk
Whether or not a person becomes seriously ill with Covid-19 depends, among other things, on genetic factors, and European researchers recently not only confirmed...
US gene-editing research offers hope for progeria
A cure for the ultra-rare disease progeria could be on the horizon. The disease speeds up ageing in children and dramatically shortens their lives,...
African ancestry genes may link to black Americans’ brain disorder risk – US study
The reasons for black Americans having a higher risk of some neurological disorders have always been unclear, but after examining the post-mortem brains of...
Deaf children hear in both ears after gene therapy trial
Results of a gene therapy trial have been labelled “astounding”, raising hopes for future treatment after five children who were born deaf now have...
Covid link to aggressive rare cancers, suggest scientists
Increasingly, scientists are suggesting that the proliferation of aggressive cancers – including previously very rare forms of the disease – since the Covid-19 pandemic...
Landmark finding on cause of inflammatory bowel disease and immune disorders
Researchers have discovered a major driver of inflammatory bowel disease (IBD) and several other immune disorders that affect the spine, liver and arteries, raising...
Durban experts flag breast cancer genetic trends for different race groups
Precise tracking of breast cancer trends in Sub-Saharan Africa is difficult because of a lack of population-specific data, but in KwaZulu-Natal, researchers were able...
Gene type causes Alzheimer’s, suggest Spanish experts
Scientists are proposing a new way of understanding the genetics of Alzheimer’s that would mean that up to a fifth of patients would be...
World’s first patient starts sickle cell gene therapy
Kendric Cromer, a 12-year-old boy in Washington, last week became the first person in the world with sickle cell disease to begin a commercially...
CRISPR gene-editing improves vision in blind children – US trial
About 79% of clinical trial participants experienced measurable improvement after receiving experimental CRISPR-based gene editing that is designed to fix a rare form of...
Gene therapy restores child’s hearing, stimulates speech
Six months after groundbreaking gene-therapy treatment, a British toddler who was born deaf can now hear unaided, and has started talking.
Opal Sandy, as part...
Researchers find genetic cause of rare disease after 25 years
After a quarter of a century of uncertainty, US scientists have finally uncovered the cause of a rare progressive neurological disease known as spinocerebellar...
Scientist who gene-edited babies back in lab
China’s He Jiankui, the scientist who used CRISPR to create the world’s first genetically-edited babies and then spent three years in prison, said he...
FDA approves ‘world’s costliest drug’ for children with MLD
A new gene therapy for the fatal genetic disorder metachromatic leukodystrophy, or MLD, will carry a wholesale price of a whopping $4.25m, its manufacturer...
Global study finds new genetic risk factors for type 2 diabetes
The risk factors for type 2 diabetes are both environmental and genetic, and while researchers have identified many genetic risk factors thus far, the...
Genetics project recruits SA families with Parkinson’s
South Africans – who may have early symptoms of Parkinson’s disease (PD) in the family – are being recruited for a global genetics programme...
MS origins traced to surprising DNA link to ancient Europeans
A team of scientists has revealed that DNA from the bones and teeth of ancient Europeans – who lived up to 34 000 years...
Genetic risk scores a poor measure to predict disease – UK study
A British study has found that polygenic risk scores, which estimate a person’s disease risk based on thousands or millions of common genetic variants,...
Global study decodes male sex chromosome for first time
The male sex chromosome has finally been decoded in a breakthrough that will help illuminate why some men are afflicted with certain conditions –...
Opening the genetics Pandora box
With the inclusion of genetic screening possibly becoming a routine test in infants in the future, experts warn that the results might not always...
Genetic link between blood sugar levels, headaches – Australian study
Recent research had shed light on the genetic basis of the link between migraine and certain blood sugar-related traits – like fasting insulin and...
Large UK study uncovers 60 new and rare genetic disorders
A massive British study has discovered and diagnosed around 60 new rare genetic disorders – including the little-known Turnpenny Fry syndrome – after more...
Beethoven’s DNA hair tests show genetic ailments, alcohol habits
Beethoven, who had a fondness for alcohol, probably had a genetic predisposition to liver disease, and a hepatitis B infection months before his death,...
Dyslexia link to 42 genetic variants in biggest study of its kind
Scientists have identified 42 genetic variants that might influence a person’s chance of having dyslexia, in the largest genetic study of the condition to...
Doppelgängers: yours is out there and you probably share DNA
That person who looks just like you is not your twin, but if scientists compared your genomes, they might find a lot in common,...
Dutch the worldʼs tallest people for 60 years but now shrinking — CBS data
The Dutch national statistics office (CBS) has confirmed that men and women of the Netherlands are the world’s tallest people, and have been for...
Landmark study of African genomes details human migration and health
A landmark study by University of Witwatersrand geneticists and partners that provides insights into ancient migrations of Bantu language-speaking populations, as well as environmental...
Genetic aspects of stroke in people of African descent
African-Americans have up to three times the risk of dying from strokes as people of European descent, yet there has been little investigation of...