For most Aussie kids, summer means freedom – long afternoons in the sun, backyard cricket, beach trips and pool parties. But for sisters Amielle, 12, and Taya, 7, sunlight is life-threatening. The Sydney girls live with Xeroderman Pigmentosum (XP), an incredibly rare genetic condition that leaves them unable to repair UV-induced DNA damage. Even the … Read more
Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a personal essay published Saturday in The New Yorker, the 35-year-old mother of two wrote that she has an inversion of chromosome 3, which significantly worsens AML survival rates. AML … Read more
The future is uncertain — but your kid’s waistline as an adult might not be. Scientists have developed a groundbreaking test that can identify children as young as five who are at increased risk of becoming severely obese later in life. The tool could one day help parents and doctors intervene early, setting young people … Read more
Tired all the time? It might be in your DNA. A new study has uncovered striking genetic differences in people suffering from a devastating illness that causes extreme exhaustion, chronic pain and brain fog that can last for months, years or even decades. Researchers are calling the discovery a “wakeup call” that could finally shift … Read more
Eight children in the UK have been spared from devastating genetic diseases thanks to a new three-person in vitro fertilization technique, scientists from Newcastle University reported on Wednesday. The technique, which is banned in the United States, transfers pieces from inside the mother’s fertilized egg — its nucleus, plus the nucleus of the father’s sperm … Read more
A hidden genetic mutation could predict a man’s likelihood of developing dementia. That’s according to an Australian study led by Monash and Curtin Universities, which analyzed the medical data of thousands of Australians and Americans. Men who had a certain variant in the haemochromatosis (HFE) gene — which regulates iron levels in the body — were found to be … Read more
A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive procedures. Unveiled at the European Society of Human Genetics conference, the test requires only 1ml of blood, making it minimally invasive compared to procedures like … Read more
In the early 2000s, a coronavirus infecting bats jumped into raccoon dogs and other wild mammals in southwestern China. Some of those animals were sold in markets, where the coronavirus jumped again, into humans. The result was the SARS pandemic, which spread to 33 countries and claimed 774 lives. A few months into it, scientists … Read more
At 18 months old, baby Luca has endured more than most people will in their lifetime. Australian parents Ashleigh and Cody welcomed their little boy at just 33 weeks – six weeks earlier than expected – and nothing could have prepared them for what would ensue in the following 11 months. Luca, who was born … Read more
Prince Frederik, the youngest son of Prince Robert of Luxembourg and Princess Julie of Nassau, has died at the age of 22. He passed away on March 1 from POLG Mitochondrial disease, a rare genetic disorder. Prince Robert, the first cousin of Grand Duke Henri of Luxembourg, shared the news on the website of the POLG … Read more
Pinpointing the cause of autism has proven difficult, in part because it’s a complex group of developmental disorders and not a single condition. Now, an international team of researchers says it has uncovered a “direct link” between autism and a gene known to play a role in brain development. An international team of researchers says … Read more
If sugar is always your jam, your DNA may be to blame. An international team of researchers says that a genetic variation in our ability to digest certain sugars may influence how much we like sweet foods — and how much we consume. The scientists are pointing the finger at the sucrase-isomaltase (SI) gene, which … Read more
Check out this adorable Tennessee kitten with not two, but four ears. This little ear-resistible feline, named Audio due to his built-in surround-sound speakers, is estimated to be nearly 9 weeks old and weighs just over 2 pounds. “This is an extremely rare genetic mutation and is completely harmless,” said True Rescue, the Mount Juliet animal shelter, which took the cat … Read more
It turns out that wealth may not buy good health. A new, large study out of Finland suggests that people with good jobs have a greater genetic risk for cancer, especially breast and prostate cancers. These findings challenge the long-held belief that people struggling with poverty are more likely to have higher rates of cancer. … Read more
Scientists have successfully zapped HIV out of infected cells — raising hopes of a cure for the chronic disease. The team from Amsterdam UMC used gene-editing technology to eliminate all traces of the virus from cells in the laboratory, the European Congress of Clinical Microbiology and Infectious Diseases announced Tuesday. “These findings represent a pivotal … Read more
New research suggests that early birds face a greater risk of developing anorexia nervosa — and those who have the eating disorder may end up becoming early risers. Scientists at Massachusetts General Hospital, in collaboration with researchers from the University College London and the University of the Republic in Uruguay, studied the genes associated with … Read more
Two in five American parents think they know everything there is to know about their biological family’s health history, a new survey suggests. Despite less than half (38%) knowing all of their biological family’s health history, nine in 10 parents polled agreed knowing this is an important part of knowing their own health risks. That’s … Read more
Lisa Marie Presley’s death Thursday was eerily similar to those of a long line of her relatives, including dad Elvis — which an author has blamed on a genetic curse from the marriage of the King’s first-cousin grandparents. Elvis’ only child was just 54 when she died Thursday, reportedly after suffering a cardiac arrest at … Read more
Both smoking and drinking are influenced by genetics as well as environmental factors.Credit: Bunyos/iStock/Getty More than 3,500 genetic variations that potentially affect smoking and drinking behaviour have been identified in a study involving almost 3.4 million people with African, American, East Asian and European ancestry. The findings, published in Nature on 7 December1, highlight how … Read more
Summary: Traits with the strongest Neanderthal DNA contribution were sleep patterns, smoking habits, and alcohol consumption. Source: Estonian Research Council It has been known for a long time that human brain disorders such as neurological or psychiatric diseases run in families, suggesting some heritability. In line with this hypothesis, genetic risk factors for developing these … Read more