All posts tagged: genetic

I Had Warning Signs For Years But A Heart Attack Revealed The Rare Genetic Disease Doctors Missed

I Had Warning Signs For Years But A Heart Attack Revealed The Rare Genetic Disease Doctors Missed

Published by Jenni Sidey

When I think about who I was growing up and what brought me joy, I think about the feeling of the waves under my board when I’m surfing. I think about fixing classic cars with my dad. And now, I think about spending time with my sons on warm days at the beach. Looking back, my journey to being a dad to two wonderful sons was very nearly cut short before it even began when I was diagnosed with homozygous familial hypercholesterolemia (HoFH), an ultra-rare inherited cholesterol condition that affects approximately 1,300 people in the U.S.  It’s the most severe form of familial hypercholesterolemia — a defect in how the body clears low-density lipoprotein cholesterol [LDL cholesterol], referred to as “bad” cholesterol. People with HoFH are at risk for premature atherosclerotic disease and cardiac events, even in their teenage years.  I had warning signs for years, but it took a heart attack to reveal the rare genetic disease doctors missed Photoroyalty via Shutterstock I’d always been active growing up, but when I was around 16, …

New genetic test predicts lung cancer spread before surgery

New genetic test predicts lung cancer spread before surgery

Published by Jenni Sidey

A quiet signal inside a tumor may soon guide how surgeons treat early lung cancer. Researchers now report that hidden genetic patterns can reveal whether a tumor has already begun to spread through blood vessels, even before surgery begins. That discovery could change how doctors approach lung adenocarcinoma, the most common form of lung cancer in the United States. It may also help answer a painful question that many patients face after surgery: will the cancer come back? A Hidden Threat Inside Early Tumors Lung cancer remains the leading cause of cancer-related death. It kills more people in the United States than breast, prostate, and colon cancers combined. Even when doctors detect it early, outcomes can vary widely. Study overview and distinct gene expression changes associated with VI in stage I LUAD. (CREDIT: Nature Communications) Some tumors behave quietly and never return after removal. Others come back months or years later, often more aggressive than before. One of the strongest warning signs is vascular invasion. Vascular invasion occurs when cancer cells break into nearby blood …

I’m A Celebrity star Craig Charles battling same genetic condition which killed his brother

I’m A Celebrity star Craig Charles battling same genetic condition which killed his brother

Published by Sam Flores

Craig Charles was diagnosed with the same genetic condition which killed his brother after suffering a terrifying heart scare. The Red Dwarf star lost his beloved brother Deann when he died suddenly in 2014 aged 52 while the actor was away in Australia filming I’m A Celebrity … Get Me Out Of Here! and Craig has now revealed he is battling the same medical problem which killed his sibling. During an episode of I’m A Celebrity All Stars, Craig, 61, explained his condition to his campmates, saying: “The arteries from my heart were narrow. It’s the same thing that killed my brother when I was here last time. They told me this is genetic, you need to go get that looked at.” However, Craig didn’t take the condition seriously until he was struck down with a “heart attack” while he was home alone. He said: “And then my wife, Jackie, is in Galway, visiting [her] parents, and I’m at home. I gave her a ring, something like that: ‘I don’t feel great, man. My jaws …

Genetic study unravels the link between caffeine intake and sleep timing

Genetic study unravels the link between caffeine intake and sleep timing

Published by José Betancourt

Drinking coffee and tea directly improves our alertness during the day, but it does not appear to inherently disrupt how much or how well we sleep at night over the long term. Research published in the Journal of Sleep Research used genetic data to determine that consuming caffeine mainly reduces daytime napping and sleepiness rather than causing insomnia. The findings suggest that common nighttime sleep problems linked to caffeinated drinks might originate from other lifestyle habits rather than the caffeine itself. Most people regularly consume some form of caffeine to start their morning. The chemical is widely recognized as a stimulant that temporarily boosts mental alertness. Yet many observational studies routinely link habitual caffeine intake to poor sleep quality and chronic insomnia. These traditional observational studies face a few fundamental limitations. People often misjudge or misremember exactly how many cups of coffee or tea they consume in a week. Relying on human memory to estimate dietary habits can easily introduce errors into the collected data. It is also difficult to untangle caffeine consumption from other …

Oldest known dog extends the genetic history of our canine companions

Oldest known dog extends the genetic history of our canine companions

Published by skeptic

Evidence from Pınarbaşı in Turkey shows that hunter-gatherers were looking after dogs about 15,800 years ago Kathryn Killackey Ancient remains in Turkey from 15,800 years ago have been confirmed as coming from a dog, the earliest one ever found. Genetic evidence also reveals that our best friends were already widely distributed across Europe 14,300 years ago, when humans were hunter-gatherers and agriculture hadn’t yet emerged. When dogs were domesticated is a knotty question, given the physical and genetic similarities between dogs (Canis lupus familiaris) and grey wolves (Canis lupus). Previously, the oldest remains genetically identified as being from a dog date to around 10,900 years ago. However, there are dog-like bones from as far back as 33,000 years ago from animals that weren’t quite dogs yet genetically, known as incipient dogs. To get a better handle on how the history of dogs played out, Lachie Scarsbrook at the University of Oxford and his colleagues have examined the genomes obtained from several early, dog-like remains at archaeological sites around Europe. The earliest remains confirmed as being …

Genetic clues tell the story of Neanderthals’ decline

Genetic clues tell the story of Neanderthals’ decline

Published by skeptic

Reconstructions of a Neanderthal man and woman at the Neanderthal Museum in Mettmann, Germany AP Photo/Martin Meissner/Alamy An analysis of Neanderthal DNA has helped piece together the story of many millennia of hard times that finally led to the demise of our ancient human relatives. Faced with a cooling climate, their population shrank and they wound up confined to what is now south-west France. Later, the climate warmed and the Neanderthals began roaming more widely. But most of their genetic diversity had been lost, so even widely dispersed groups had very similar DNA. This situation – small, isolated groups with little genetic diversity – may have contributed to their eventual extinction. The Neanderthals lived in Europe and Asia for hundreds of thousands of years, disappearing from the archaeological record about 40,000 years ago. Previous studies of their DNA had pointed to a drastic shift in their genetics towards the end. Late Neanderthals, meaning those who lived after about 60,000 years ago, were genetically similar to each other and different from those who came before. “There …

What is SMA? The rare genetic condition that Jesy Nelson’s twin daughters have

What is SMA? The rare genetic condition that Jesy Nelson’s twin daughters have

Published by Daniella Wilson

Get the Well Enough newsletter with Harry Bullmore for tips on living a healthier, happier and longer life Get the Well Enough email with Harry Bullmore Get the Well Enough email with Harry Bullmore Former Little Mix star Jesy Nelson has revealed her twin daughters, Ocean Jade and Story Monroe Nelson-Foster, have been diagnosed with Spinal Muscular Atrophy (SMA) Type 1, a rare genetic condition that may prevent them from ever walking. The 34-year-old singer, who welcomed the twins prematurely last May with Zion Foster, shared the diagnosis in an emotional Instagram video last year. She detailed the “gruelling three/four months” leading to the discovery, after an “endless” series of appointments confirmed her daughters had “a severe muscle disease called SMA Type 1.” Nelson has since begun campaigning for SMA1 screenings from birth, and started a petition to add the condition to the newborn blood spot screening test, also known as the heel prick test. In an emotional conversation with Health Secretary Wes Streeting on ITV’s This Morning, Nelson said: “It’s just madness to me …

Genetic risk for major depression linked to lower self-esteem years before severe diagnosis

Genetic risk for major depression linked to lower self-esteem years before severe diagnosis

Published by José Betancourt

A recent study published in the journal Molecular Psychiatry provides evidence that an individual’s genetic risk for major depression tends to be higher in those who develop more severe forms of the condition. By combining genetic data, self-reported symptom questionnaires, and long-term health records, researchers found that people with a higher genetic likelihood of depression often reported lower self-esteem years before needing hospital treatment. “Depressive disorders are common in the population, but the symptom expression and course of the disorders vary quite a bit between individuals. The current treatment guidelines are not differentiated enough to address this heterogeneity, and depression is still a major cause of disability worldwide,” said lead researcher Marit Haram, a specialist in psychiatry at Oslo University Hospital and an associate professor at the University of Oslo. “A potential future method to predict illness outcome and guide personalized treatment is to assess the individual genetic risk for depression (in terms of [a] polygenic risk score). The genetic discovery is not yet good enough for clinical use, but we had a unique dataset …

Genetic tendency for impulsivity is linked to lower education and earlier parenthood

Genetic tendency for impulsivity is linked to lower education and earlier parenthood

Published by José Betancourt

The human tendency to prefer immediate rewards over long-term goals is partly rooted in our DNA, according to a recent study published in the American Journal of Human Biology. The findings suggest that these genetic differences are also linked to major life milestones, including how much education a person completes and when they start a family. Ultimately, the research indicates that both biology and environment shape our approaches to planning for the future. In psychology and evolutionary biology, scientists study how humans allocate their time and energy throughout their lives. This concept is known as life history theory. Evolutionary biologists focus on how humans balance their resources between their own growth and their reproduction. Within this framework, humans face a biological trade-off between the quantity and quality of their offspring. A person might have many children but invest fewer resources in each one. Alternatively, they might have fewer children but invest heavily in the skills and success of each individual child. Some people follow a fast life strategy, which tends to involve shorter periods of …

Sharing genetic risk scores can unwittingly reveal secrets

Sharing genetic risk scores can unwittingly reveal secrets

Published by skeptic

Genetic data can be analysed to estimate your risk of certain conditions Science Photo Library / Alamy Genetic risk scores that summarise a person’s likelihood of getting certain health conditions can be exploited through mathematical tricks to reveal hidden details about their DNA. The method could theoretically be used by health insurers to reconstruct genetic data from a summary genomic report, revealing health risks not divulged by the patient. Alternatively, people sharing their scores anonymously could be identified by extracting the genetic data and querying public genealogy databases. Polygenic risk scores measure the impact of tens to thousands of individual letter variations in the genome, known as single-nucleotide polymorphisms (SNPs). Used by researchers and DNA testing companies such as 23andMe to summarise potential health risks, the scores are sometimes shared publicly, for example, by people asking for advice on interpreting their scores. Unpacking a polygenic risk score is like trying to work out a phone number knowing only that the digits add up to 52. It’s an example of the knapsack problem in mathematics, known …