Latest news with #biobank
Medscape
20-05-2025
- Health
- Medscape
BBB Injury and Neuroinflammation in Eclampsia
Eclampsia was associated with distinct cerebrospinal fluid (CSF) biomarker profiles, indicating severe disruption of the blood-brain barrier (BBB) and increased neuroinflammation. METHODOLOGY: This investigation focused on BBB injury and neuroinflammation to elucidate mechanisms underlying cerebral injury. A total of 129 women from the Pre-eclampsia Obstetric Adverse Events biobank in South Africa who underwent caesarean delivery between March 2021 and June 2023 were included, of whom 11 had eclampsia, 17 had preeclampsia with end-organ complications, 88 had preeclampsia without end-organ complications, and 13 had normotensive pregnancies. An observational cross-sectional design was used; participants were stratified on the basis of the severity of preeclampsia (with end-organ complications). CSF and plasma samples were collected during spinal anaesthesia; CSF concentrations of claudin-5 and matrix metalloproteinase-9 and the CSF/plasma albumin ratio were measured; cytokine and chemokine levels were measured using the multiplex Bio-Plex assay. BBB injury markers and cytokine levels were compared using the analysis of covariance. Secondary outcomes included correlation analyses between CSF and plasma biomarkers. TAKEAWAY: Women with eclampsia showed 2.7-fold higher claudin-5 concentrations in CSF than those with normotensive pregnancies ( P = .005), with concentrations 4.0-fold higher than those with preeclampsia and end-organ complications and 3.1-fold higher than those with preeclampsia without end-organ complications. = .005), with concentrations 4.0-fold higher than those with preeclampsia and end-organ complications and 3.1-fold higher than those with preeclampsia without end-organ complications. Interleukin (IL)-6 levels were significantly elevated (20.7-fold; P < .001); IL-8 (7.2-fold; P < .001) and IL-10 (2.0-fold; P = .004) levels were also increased. < .001); IL-8 (7.2-fold; < .001) and IL-10 (2.0-fold; = .004) levels were also increased. No correlation was observed between CSF and plasma cytokine levels ( P > .05), but strong associations were noted between IL-6 and IL-8 levels (r = 0.74). > .05), but strong associations were noted between IL-6 and IL-8 levels (r = 0.74). Stem cell factor levels were significantly lower in women with eclampsia (0.5-fold decrease; P = .005) than in those with normotensive pregnancies; leukaemia inhibitory factor levels were 3.8-fold higher in those with eclampsia than in those with preeclampsia without end-organ complications. = .005) than in those with normotensive pregnancies; leukaemia inhibitory factor levels were 3.8-fold higher in those with eclampsia than in those with preeclampsia without end-organ complications. Monocyte chemoattractant protein-1 levels were 4.3-fold higher in women with eclampsia than in those with preeclampsia with end-organ complications; interferon-gamma levels were 2.9-fold higher in those with eclampsia than in those with preeclampsia and end-organ complications; IL-10 levels were 2.0-fold higher in those with eclampsia than in those with preeclampsia without end-organ complications. IN PRACTICE: "Women with eclampsia experience acute neuroinflammation and blood-brain barrier injury, comparable to patterns observed in neurodegenerative diseases such as acute traumatic brain injury, stroke or Alzheimer's disease. Clinical follow-up of women with eclampsia postpartum should be considered," the authors of the study wrote. SOURCE: This study was led by Valentina Bucher, PhD, Department of Obstetrics and Gynecology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. It was published online on May 08, 2025, in eBioMedicine . LIMITATIONS: This study was limited by the fact that samples were collected only after the onset of eclampsia, preventing the determination of whether BBB injury and neuroinflammation were causes or consequences of seizures. Despite having a substantial number of women with eclampsia, the small absolute number may have limited statistical power and introduced false-negative results. DISCLOSURES: This study was supported by the Swedish Research Council, Herbert och Karin Jacobssons Stiftelse, Wilhelm and Martina Lundgrens Foundations, and Swedish Society of Medicine. Some authors reported serving at scientific advisory boards and/or as consultants for several pharmaceutical organisations.
New York Times
19-05-2025
- Health
- New York Times
A Genetic Clue to Why Men Are Taller Than Women
Men are taller than women, by an average of about five inches. But why? It's not a genetic inevitability — there are many species in the tree of life where females outclass males. A new study, published on Monday in the Proceedings of the National Academy of Sciences that involved genetic data from a million people, has found a partial explanation. It involves a gene called SHOX, which is known to be associated with height. SHOX is present on both the X chromosome — females have two X chromosomes — and the Y chromosome; males have one X and one Y. The researchers suspected that SHOX might explain differences in male and female height, but there was a problem with that hypothesis. Since SHOX is on both the X and Y chromosomes, it would need to have a different effect on each chromosome. Does it, the researchers asked? To investigate the hypothesis, they asked if an extra Y chromosome boosted a person's height more than an extra X chromosome. There are rare conditions in which people are born with an extra X or an extra Y, or have a missing X or Y. To find people with these conditions, researchers plumbed data from three biobanks, or repositories of deidentified genetic and medical data from individuals. One biobank was from Britain, and the other two were from the United States. With nearly a million individuals' data in the biobanks, the group was able to find 1,225 people with either missing or extra X or Y chromosomes. Some of these conditions, like in people with one X and no Y, were known to be associated with health issues — as well as, in this case, short stature. And, they found, an extra Y did provide more height than an extra X. Their hypothesis was borne out. The biochemistry of the SHOX gene may be the reason. Matthew Oetjens, a genetics researcher at Geisinger College of Health Sciences in Danville, Pa., and senior author of the study, explained: The placement of the SHOX gene, he said, is near the end of the sex chromosomes. In females, most genes on one of the two Xs are silenced, or inactive. But one region where the genes remain active is at the very tip of the X. The SHOX gene is close enough to the tip that it is not quite silenced. In men, the X, with its SHOX, is fully active. So is the Y. This means that a woman, with her two X chromosomes, will have a slightly lower dose of the SHOX gene than a man, with an X and a Y. As a result, males get a slightly bigger SHOX gene effect. That, the researchers calculated, accounts for nearly a quarter of the average difference in height between men and women. Dr. Oetjens said that other features of male sex hormones account for most of the rest of the difference, and other genetic factors are thought to play a role. The work is 'definitely cool,' said Eric Schadt, a professor in the department of genetics and genomic science at Mount Sinai School of Medicine in New York City. 'It is a great use of these biobanks to uncover what is still somewhat of a mystery,' he said. 'Even though the effect is modest, it does explain 20 percent or so of the height difference.'
Gizmodo
19-05-2025
- Business
- Gizmodo
23andMe (and Your Genetic Data) Sold to Regeneron in Bankruptcy Auction
Genetic testing company 23andMe isn't going away, despite declaring bankruptcy. The company and nearly all of its assets, including its biobank of customer genetic samples, have been purchased by American biotechnology company Regeneron Pharmaceuticals for a cool $256 million, the highest bid submitted in the once-hot startup's bankruptcy auction. The purchase, announced Monday, will place 23andMe's brand as well as its Personal Genome Service (PGS), Total Health, and Research Services under the control of New York-based Regeneron. It'll also continue to operate the company's consumer-facing genome services without interruption, meaning you can still buy those DNA-testing kits off the shelves of big-box retailers to learn about your family history and health. Of all of the potential landing spots for 23andMe—and, more importantly, the data of more than 15 million people who have submitted genetic samples to the company—Regeneron is one of the softer options available. There was legitimate concern that the company's biobank could have been scooped up by unscrupulous actors. The bankruptcy sale saw California's Attorney General urge citizens to request that 23andMe delete their data and prompted a probe from lawmakers concerned about how the company handled the sensitive information it collected. Your mileage may vary on just how much you trust Regeneron, a company that sequences exomes to find novel drug targets, with consumer data, but it's (probably) better than having 23andMe land in the hands of some private equity ghouls. Regeneron is best known in the public consciousness for its experimental 'antibody cocktail' developed in response to the covid-19 pandemic—the treatment that Donald Trump took when he tested positive in October 2020. Things have been dicey for 23andMe for a while now, so perhaps the new parent company will provide some stability. The company went public in 2021 and was at one point valued at $6 billion before a series of high-profile failures dragged its value almost to $0. The company tried to capitalize on its trove of DNA data to develop drugs but only ever got two to the point of human testing. It tried to launch a subscription service with personalized health reports and lifestyle advice but failed to hit even half of its goal for sign-ups, per the Wall Street Journal. Then came the data breach. In 2023, the company experienced a breach that it initially said affected about 14,000 people. The real figure turned out to be closer to 6.9 million, who had their names, birth years, relationship labels, family names, and locations exposed. People who opted into the DNA Relatives feature, which allows people to identify and connect with genetic relatives, had their Family Tree profiles accessed. The situation did serious damage to the company's reputation, which isn't great when your business is reliant on people trusting you with their most personal data
The Guardian
17-05-2025
- Health
- The Guardian
The ick factor that could save a life: US cancer researchers look to fecal waste for treatment clues
A leading US clinic hopes its fecal waste biobank will help researchers make new discoveries about how to treat cancer patients – one of several efforts to turn human waste into medicine. The Mayo Clinic biobank is part of researchers' years-long effort to 'personalize' medicine by uncovering how the microbiome changes how patients react to cancer medications. 'If I can figure out by looking at somebody's microbiome and their genes as to what drug they would most likely respond to, I would want to pick that drug as a first step,' said Purna Kashyap, director of the Mayo Clinic's microbiomics program, which oversees the biobank. By comparison, most cancer drugs today are used as a regimen or, as Kashyap describes it: 'Everybody gets this as a first-line therapy, and everybody gets this as a second-line therapy and everybody gets this as a third-line therapy.' At the heart of the clinic's effort to understand the microbiome is a biobank of more than 2,000 stool samples – a collection with ick factor – but one that researchers hope can help them understand why patients respond differently to cancer treatment. The idea behind the research is that, in addition to human cells, every person has a microbiome, a collection of 100tn 'microbial symbionts': bacteria. Microbiomes are what 'we rely [on] to aid in nutrition, resist pathogens, and educate our immune system', researchers once wrote for Science. These bacteria colonize our bodies, from skin to guts. The biobanks' work on cancer is just one of several large-scale efforts that seek to understand how the gut microbiome may mediate how patients respond to cancer treatment – such as whether tumors shrink in response to chemotherapy or the severity of side effects. Along these lines, researchers have experimented with colonizing patients' guts with new bacteria through fecal transplants. Although still in the research phase, the trials have produced some promising results. The same idea has researchers investigating 'crapsules' and 'crispr-ing' the gut microbiome, according to a new book by Dr Eric Topol, chair of the department of translational medicine of the Scripps Research Institute. The private biobank's work, and Kashyap's expectation that it could publish some results this summer, comes as the broader scientific community is under attack by the Trump administration. The White House has proposed disproportionately large cuts to the US's scientific institutions, including a 40% cut to the National Institutes of Health (NIH). While private companies and hospital systems, such as the Mayo Clinic, are working on individual studies, almost no one in the research community believes 'puny' private budgets can fill a federal government-sized void. Similarly, health secretary Robert F Kennedy Jr's cut of roughly 20,000 jobs from the Department of Health and Human Services has jeopardized some government biobanks – as is the case with the Centers for Disease Control and Prevention's bank of roughly 50,000 gonorrhoea samples, whose fate is unknown after the entire staff was laid off. 'The kinds of biobanking and data collection the NIH funds are open-ended and openly available,' said Derek Lowe, an organic chemist and author of the popular In the Pipeline blog on drug development. 'There aren't too many other people doing stuff like this.'
