Latest news with #geneticdisorders
Arab News
6 days ago
- Health
- Arab News
Study reveals genetic insights about Saudi and Japanese populations
RIYADH: A new study using Saudi and Japanese pangenome samples exclusively has revealed genetic insights relating to these two populations. 'Up to 12 percent of patients with genetic disorders go undiagnosed due to reliance on reference genomes that don't reflect their population's genetic background,' said Malak Abedalthagafi, professor at Tufts Medical Center and one of the lead authors of the study. 'By constructing population-specific pangenome graphs, we improve variant calling and help close this diagnostic gap.' The pangenome is considered a powerful reference tool to study individual and group DNA. Similar to how a map shows a person's position in relation to their landscape, the pangenome allows researchers to compare a person's genetic makeup with the full spectrum of genetic variation found across a population. 'Having worked on the Saudi genome for several years, contributing to this project marks a meaningful step in my commitment to advancing representation in genomics and ensuring precision medicine serves diverse populations,' Abedalthagafi said. Fellow author of the study and KAUST Professor Robert Hoehndorf explained that building the graphs, which the study calls JaSaPaGe (Japanese Saudi PanGenome), using samples from two distinctive populations offers new health insights. 'Japan and Saudi Arabia are pretty much at the opposite ends of Asia and have been separated for a long time. It gave us a chance to study the effects of population-specific pangenome graphs on variant calling when populations do not match,' Hoehndorf said. JIHS' Yosuke Kawai, another author of the study, added that there were clinical benefits to be gained for both populations. He said: 'The joint development of a population-specific pangenome graph for the Japanese and Saudi Arabian populations addresses a critical gap in global genomic representation. 'By integrating diverse data from both countries, we have created a powerful resource that not only improves variant detection accuracy but also holds great potential for advancing precision medicine tailored to each population's unique genetic landscape.' The first human pangenome was reported in 2023, but none of the DNA samples collected were taken from individuals with Arab or Japanese descent, meaning it was constructed without representation from almost 10 percent of the world's population. The study was carried out by King Abdullah University of Science and Technology, Tufts University and the Japan Institute for Health Security.
Yahoo
11-08-2025
- Health
- Yahoo
IBAT Inhibitors Market Witnesses Strong Growth During the Forecast Period (2025-2034) Owing to the Rising Demand for Rare Cholestatic Liver Disease Therapies
The market for IBAT inhibitors is projected to experience significant growth in the near future, fueled by the rising incidence of genetic disorders, a strong pipeline of clinical trials, and growing regulatory approvals. Leading companies such as GlaxoSmithKline, Mirum Pharmaceuticals, Ipsen Pharma, Albireo, Takeda, and others are actively developing IBAT inhibitor therapies targeting conditions like PBC, PSC, ALGS, PFIC, and related diseases. LAS VEGAS, Aug 11, 2025 /PRNewswire/ -- DelveInsight's IBAT Inhibitors Market Size, Target Population, Competitive Landscape & Market Forecast report includes a comprehensive understanding of current treatment practices, addressable patient population, which includes top indications such as primary sclerosing cholangitis (PSC), primary biliary cholangitis (PBC), metabolic dysfunction-associated steatohepatitis (MASH), chronic constipation, biliary atresia, Alagille syndrome (ALGS), and others. The selected indications are based on approved therapies and ongoing pipeline activity. The report also provides insights into the emerging IBAT inhibitors, market share of individual therapies, and current and forecasted market size from 2020 to 2034, segmented into 7MM. Key Takeaways from the IBAT Inhibitors Market Report As per DelveInsight's analysis, the total market size of IBAT inhibitors in the 7MM is expected to surge significantly by 2034. The report provides the total potential number of patients in the indications, such as primary sclerosing cholangitis (PSC), primary biliary cholangitis (PBC), metabolic dysfunction-associated steatohepatitis (MASH), chronic constipation, biliary atresia, Alagille syndrome (ALGS), and others. Leading IBAT inhibitor companies, such as GlaxoSmithKline, Mirum Pharmaceuticals, Ipsen, Albireo, and others, are developing novel IBAT inhibitors that can be available in the IBAT inhibitors market in the coming years. Some of the key IBAT inhibitors in the pipeline include Linerixibat, Volixibat, Ritivixibat, and others. In March 2025, Takeda announced that Japan's MHLW approved LIVMARLI Oral Solution 10 mg/mL for the treatment of pruritus associated with cholestasis in ALGS and PFIC. In November 2024, Ipsen announced data at the AASLD assessing the long-term efficacy and safety of patients treated with BYLVAY from two Phase III open-label extension studies in PFIC and ALGS. In October 2024, Mirum Pharmaceuticals announced that the FDA granted a breakthrough therapy designation (BTD) to volixibat as a possible treatment for cholestatic pruritus in patients with PBC. Volixibat also received FTD from the FDA in 2016 for the treatment of NASH in patients with liver fibrosis. Discover which indication is expected to grab the major IBAT inhibitors market share @ IBAT Inhibitors Market Report IBAT Inhibitors Market Dynamics The market dynamics for IBAT inhibitors are shaped by a confluence of factors, including rising prevalence of rare cholestatic liver diseases, growing awareness of pediatric liver disorders, and the increasing regulatory support for rare disease therapeutics. The approval of two key drugs, LIVMARLI and BYLVAY, by the US FDA and European regulatory authorities has not only validated the therapeutic mechanism but also catalyzed investment and R&D activity in this niche segment. The market is expected to witness significant growth due to the unmet medical need in pediatric hepatology and the relatively limited competition within this orphan drug space. Both LIVMARLI and BYLVAY have demonstrated clinically meaningful reductions in pruritus and improvements in liver function biomarkers, supporting their adoption. Furthermore, these drugs benefit from orphan drug designation, which grants market exclusivity, reduced regulatory fees, and extended patent life, enhancing the commercial attractiveness for developers. Their use is currently being explored in additional indications, including biliary atresia and intrahepatic cholestasis of pregnancy, which could further expand their market potential. Despite the momentum, there are key challenges that could moderate growth. One is the high cost of therapy, which may limit access in markets with less robust healthcare reimbursement systems. Additionally, the rarity of target diseases necessitates specialized diagnostic capabilities and referral networks, which are underdeveloped in many regions. Market penetration in emerging economies remains limited, creating a disparity in treatment availability. Moreover, competition is expected to intensify as more players enter the space with either me-too IBAT inhibitors or gene therapy-based solutions aiming at disease modification. IBAT Inhibitors Treatment Market As of now, two IBAT inhibitors, LIVMARLI and BYLVAY (also marketed as KAYFANDA), have received regulatory approvals. LIVMARLI, an oral IBAT inhibitor available in both liquid and tablet forms, has been approved by the U.S. FDA for use in pediatric patients with cholestatic liver diseases. In the U.S., it is indicated for treating cholestatic pruritus in patients with Alagille syndrome (ALGS) aged three months and older, and in Europe for those aged two months and older. Additionally, it is approved in the U.S. for patients aged 12 months and older with progressive familial intrahepatic cholestasis (PFIC), and in Europe for patients aged three months and above. The drug is currently being studied in the Phase III EXPAND trial to assess its potential in broader settings of cholestatic pruritus, with enrollment expected to conclude by 2026. LIVMARLI has received Breakthrough Therapy designation in the U.S. for ALGS and PFIC2, and Orphan Drug Designation (ODD) for both ALGS and PFIC in the U.S. and Europe. Japan's Ministry of Health, Labour and Welfare (MHLW) granted it ODD for anticipated indications in ALGS and PFIC in December 2022. In April 2025, Mirum Pharmaceuticals announced FDA approval of a new tablet formulation of LIVMARLI for use in ALGS and PFIC, with commercial availability expected in June 2025 via the Mirum Access Plus program. Additionally, in November 2024, the company presented new clinical data on LIVMARLI at the AASLD Liver Meeting. BYLVAY is a potent, once-daily IBAT inhibitor that works locally in the small intestine with limited systemic absorption. It is approved in the U.S. for treating pruritus in PFIC patients aged three months and older, where it benefits from orphan drug exclusivity. First launched in the U.S. in 2021 for PFIC, BYLVAY is supported by programs to facilitate patient access and support. In the EU, it is approved for PFIC in children aged six months and above and is available in over nine countries, with reimbursement in key markets such as Germany, France, Italy, the UK, and Belgium. In June 2023, the U.S. FDA approved BYLVAY for treating cholestatic pruritus in ALGS patients aged 12 months and older. Subsequently, in September 2024, the European Commission approved the drug, under the brand name KAYFANDA, under exceptional circumstances for treating cholestatic pruritus in ALGS in children aged six months and above. Learn more about the IBAT inhibitors @ IBAT Inhibitors Analysis Key Emerging IBAT Inhibitors and Companies Key IBAT inhibitors in the pipeline include Volixibat (Mirum Pharmaceuticals), Linerixibat (GlaxoSmithKline), Ritivixibat (Ipsen/Albireo), and others. Volixibat is an orally administered, minimally absorbed drug designed to specifically block the ileal bile acid transporter (IBAT). By inhibiting IBAT, it disrupts the enterohepatic circulation of bile acids, potentially lowering bile acid levels in the liver and bloodstream—offering a novel treatment strategy for adult cholestatic liver diseases. The drug is currently being tested in Phase IIb trials: the VISTAS study for primary sclerosing cholangitis (PSC) and the VANTAGE study for primary biliary cholangitis (PBC). According to Mirum Pharmaceuticals' 2024 annual report, enrollment in the VISTAS study for PSC is expected to conclude in the second half of 2025, with top-line results anticipated in 2026. Enrollment for the VANTAGE study in PBC is projected to be completed in 2026. In November 2024, Mirum presented data on volixibat at the AASLD meeting. Linerixibat, another IBAT inhibitor, is an orally administered therapy under development for managing cholestatic pruritus linked to PBC, a rare autoimmune liver disorder. By blocking the reabsorption of bile acids, linerixibat aims to tackle the underlying mechanism of itch in these patients. Both the U.S. FDA and the European Medicines Agency (EMA) have granted orphan drug designation (ODD) to linerixibat for this indication. In November 2024, GSK reported positive top-line results from GLISTEN, its global Phase III trial assessing linerixibat in adults with PBC-related cholestatic pruritus. According to GSK's Q4 update, regulatory submissions in the U.S., Europe, and China are expected in the first half of 2025, followed by a U.S. regulatory decision and a Japan submission in the second half of the year. Regulatory decisions in Europe, Japan, and China are projected for 2026. The anticipated launch of these emerging therapies are poised to transform the IBAT inhibitors market landscape in the coming years. As these cutting-edge therapies continue to mature and gain regulatory approval, they are expected to reshape the IBAT inhibitors market landscape, offering new standards of care and unlocking opportunities for medical innovation and economic growth. To know more about IBAT inhibitors clinical trials, visit @ IBAT Inhibitors Treatment IBAT Inhibitors Overview IBAT inhibitors are typically taken orally, with most designed to remain in the gut and exhibit minimal absorption into the bloodstream. As a result, plasma levels often remain below detectable limits after either single or repeated dosing within the approved range. Nonetheless, newer IBAT inhibitors that are systemically absorbed are currently under development. A key drawback of gut-restricted IBAT inhibitors is their reduced effectiveness in patients with complete or near-total biliary obstruction, where bile acids do not adequately reach the small intestine. This is especially a concern in children, as biliary atresia is the leading cause of cholestasis in this population. To address this, systemically active ASBT inhibitors have been created. ASBTs are also found in the proximal tubules of the kidneys, where they help reabsorb small amounts of bile acids filtered through the glomerulus. IBAT Inhibitors Epidemiology Segmentation The IBAT inhibitors market report proffers epidemiological analysis for the study period 2020–2034 in the 7MM, segmented into: Total Cases in Selected Indications for IBAT Inhibitors Total Eligible Patient Pool in Selected Indications for IBAT Inhibitors Total Treated Cases in Selected Indications for IBAT Inhibitors IBAT Inhibitors Report Metrics Details Study Period 2020–2034 IBAT Inhibitors Report Coverage 7MM [The United States, the EU-4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan] Key Indications Covered in the Report Primary sclerosing cholangitis (PSC), primary biliary cholangitis (PBC), metabolic dysfunction-associated steatohepatitis (MASH), chronic constipation, biliary atresia, Alagille syndrome (ALGS), and others Key IBAT Inhibitors Companies GlaxoSmithKline, Mirum Pharmaceuticals, Ipsen, Albireo, Takeda, Ipsen Pharma, and others Key IBAT Inhibitors Linerixibat, Volixibat, Ritivixibat, LIVMARLI, BYLVAY/KAYFANDA, and others Scope of the IBAT Inhibitors Market Report IBAT Inhibitors Therapeutic Assessment: IBAT Inhibitors' current marketed and emerging therapies IBAT Inhibitors Market Dynamics: Conjoint Analysis of Emerging IBAT Inhibitor Drugs Competitive Intelligence Analysis: SWOT analysis and Market entry strategies Unmet Needs, KOL's views, Analyst's views, IBAT Inhibitors Market Access and Reimbursement Discover more about IBAT inhibitors in development @ IBAT Inhibitors Clinical Trials Table of Contents 1 Key Insights 2 Report Introduction 3 Executive Summary 4 Key Events 5 Epidemiology Market Forecast Methodology of IBAT Inhibitors 6 IBAT Inhibitors Market Overview at a Glance in the 7MM 6.1 Market Share (%) Distribution by Therapies in 2025 6.2 Market Share (%) Distribution by Therapies in 2034 6.3 Market Share (%) Distribution by Indications in 2025 6.4 Market Share (%) Distribution by Indications in 2034 7 IBAT Inhibitor: Background and Overview 7.1 Introduction 7.2 The potential of IBAT inhibitors in Different Indications 7.3 Clinical Applications of IBAT Inhibitors 8 Target Patient Pool 8.1 Key Findings 8.2 Assumptions and Rationale: 7MM 8.3 Epidemiology Scenario in the 7MM 8.3.1 Total Cases in Selected Indications for IBAT Inhibitor in the 7MM 8.3.2 Total Eligible Patient Pool in Selected Indications for IBAT Inhibitor in the 7MM 8.3.3 Total Treated Cases in Selected Indications for IBAT Inhibitor in the 7MM 8.4 The US 8.5 EU4 and the UK 8.6 Japan 9 Marketed Drugs 9.1 Key Competitors 9.2 LIVMARLI (maralixibat chloride): Mirum Pharmaceuticals 9.2.1 Product Description 9.2.2 Regulatory Milestones 9.2.3 Other Developmental Activities 9.2.4 Clinical Development 9.2.5 Safety and Efficacy 9.2.6 Analyst Views 10 Emerging Therapies 10.1 Key Cross Competition 10.2 Volixibat: Mirum Pharmaceuticals 10.2.1 Drug Description 10.2.2 Others Developmental Activities 10.2.3 Clinical Trials Information 10.2.4 Safety and Efficacy 10.2.5 Analyst's View 10.3 Linerixibat: GlaxoSmithKline List of drugs to be continued in the final report... 11 IBAT Inhibitor: the 7MM Analysis 11.1 Key Findings 11.2 Key Market Forecast Assumptions 11.2.1 Cost Assumptions and Rebates 11.2.2 Pricing Trends 11.2.3 Analogue Assessment 11.2.4 Launch Year and Therapy Uptakes 11.3 Market Outlook 11.4 Attribute Analysis 11.5 Total Market Size of IBAT Inhibitor in the 7MM 11.6 The US Market Size 11.6.1 Total Market Size of IBAT Inhibitor in the US 11.6.2 Market Size of IBAT Inhibitors by Indication in the United States 11.6.3 Market Size of IBAT Inhibitor by Therapies in the US 11.7 EU4 and the UK Market Size 11.8 Japan Market Size 11 Unmet Needs 12 SWOT Analysis 13 KOL Views 14 Market Access and Reimbursement 14.1 The US 14.2 EU4 and the UK 14.3 Japan 15 Acronyms and Abbreviations 16 Bibliography 17 Report Methodology Related Reports Metabolic Dysfunction-associated Steatohepatitis Market Metabolic Dysfunction-associated Steatohepatitis Market Insights, Epidemiology, and Market Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key MASH companies, including Inventiva Pharma, Novo Nordisk A/S, Cirius Therapeutics, Akero Therapeutics, 89bio, Boehringer Ingelheim, Zealand Pharma, Galectin Therapeutics, Lipocine, Viking Therapeutics, Eli Lilly and Company, Boston Pharmaceuticals, Pfizer, HighTide Biopharma, CytoDyn, Merck & Co., Hanmi Pharmaceutical, Hepagene (Shanghai), Hepion Pharmaceuticals, Enyo Pharmaceuticals, Gilead Sciences, Poxel SA, Zydus Therapeutics, Sagimet Biosciences, Ionis Pharmaceuticals, Corcept Therapeutics, among others. Primary Sclerosing Cholangitis Market Primary Sclerosing Cholangitis Market Insights, Epidemiology, and Market Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key PSC companies, including Gilead Sciences, Phenex Pharmaceuticals, HighTide Therapeutics, Dr. Falk Pharma, Mirum Pharmaceuticals, Pliant Therapeutics, Inc., NGM Biopharmaceuticals, CymaBay Therapeutics, Chemomab Therapeutics, among others. Primary Biliary Cholangitis Market Primary Biliary Cholangitis Market Insights, Epidemiology, and Market Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key PBC companies, including CymaBay Therapeutics, Zydus Therapeutics, Genfit, GlaxoSmithKline, Calliditas Therapeutics AB (Calliditas Therapeutics Suisse SA), Intercept Pharmaceuticals, Mirum Pharmaceuticals, Escient Pharmaceuticals, Gannex Pharma, Nanjing Chia-tai Tianqing Pharmaceutical, among others. Biliary Atresia Market Biliary Atresia Market Insights, Epidemiology, and Market Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key biliary atresia companies, including Mirium Pharmaceuticals, Albireo, Intercept Pharmaceuticals, among others. About DelveInsight DelveInsight is a leading Business Consultant and Market Research firm focused exclusively on life sciences. It supports pharma companies by providing comprehensive end-to-end solutions to improve their performance. Get hassle-free access to all the healthcare and pharma market research reports through our subscription-based platform PharmDelve. Contact UsShruti Thakur info@ +14699457679 Logo: View original content: SOURCE DelveInsight Business Research, LLP Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Telegraph
02-08-2025
- Health
- Telegraph
World first as life-saving cancer drugs to be mixed at patients' bedsides
Cancer patients will get personalised drugs made at their bedside under new laws, The Telegraph can reveal. The UK is the first country in the world to relax the strict manufacturing rules that cause delays to time-sensitive treatments. An increasing number of new medicines, including for cancer and rare genetic disorders, involve creating a bespoke drug for each patient by collecting their cells and modifying them in a laboratory, before they are injected back into the patient. But because the samples have to be taken and edited in specialist facilities – often hundreds of miles away – patients are too often facing delays. They may become too unwell to receive the drug, or the medicine itself may not survive the journey because of its short shelf-life. From now, the last of these steps can be completed closer to the patient, reducing the time it takes to produce a life-saving treatment from months to just days, the medical regulator said. 'Flexible, responsive system' The new laws, introduced by the Medicines and Healthcare products Regulatory Agency (MHRA), will mean the drugs can be manufactured where the patient is – and given to them in hospital or their own homes. Writing in The Telegraph, Lawrence Tallon, the new chief executive of the MHRA, said it was about creating 'a more flexible, responsive system that meets the needs of modern medicine' rather than forcing 'the medicine to fit an outdated system'. 'Some of these advanced therapies are made using a person's own cells. Others are built around their genetic code. A few are so sensitive they can't be frozen or stored – they have to be given to the patient within mere minutes of being made. That's a world away from how medicines are typically mass-made and distributed today,' he said. 'In these cases, delays can be critical. Some patients have become too unwell to receive their treatment in time. In others, the medicine simply didn't survive the journey.' He added: 'Hospitals can now carry out the final steps of manufacturing on-site – under the same strict standards, but far more quickly. 'That means a cancer patient could now have their immune cells collected, modified, and returned at the same hospital. A child with a rare genetic disorder can receive a therapy made at their bedside.' 'Personalised therapies' Mobile units will also be deployed to finish the manufacturing of the drugs for patients who are too sick to leave their homes or need to limit hospital visits because of weakened immune systems. The MHRA said the move mirrored how chemotherapy and antibiotics are prepared locally, but stressed that there would still be strict safeguards and regulatory protocols. There will also be a 'central control site' that will oversee the personalised therapies being completed in hospitals. Wes Streeting, the Health Secretary, said it was a 'game-changer'. 'Cancer treatments tailored in days, not months. Life-saving therapies made at your bedside, not hundreds of miles away,' he said. 'Our Plan for Change promised to build an NHS fit for the future. Today we're delivering on that pledge by bringing cutting-edge care directly to patients when they need it most. 'This type of therapy means patients can be treated and return home more quickly.' One example of a personalised treatment that is set to become more accessible for patients is CAR-T cancer therapy. It involves genetically modifying a blood cancer patients' immune cells so that the immune system recognises and kills the cancer cells that would otherwise go undetected by the body and continue to spread. Previously, hospitals were only able to offer these treatments through complicated, one-off arrangements. The changes have already come into effect after the legislation, known as The Human Medicines (Amendment) (Modular Manufacture and Point of Care) Regulations 2025, was passed last month. It covers a range of innovations, including cell and gene therapies, tissue-engineered treatments, 3D printed products, blood products, and medicinal gases. Lord Vallance, the science minister and Government's former chief scientific officer, said the 'world-first framework gives the NHS and innovators a clear, safe way to bring advanced treatments from the lab to the patient's bedside'. 'It's a powerful example of how smart regulation can help more patients benefit from the best of British science.' 'Modern medicine needs a modern delivery system' By Lawrence Tallon For most medicines, the system works well enough. Medicines are made in bulk, boxed up, and shipped off to where they're needed in the world. It's how care has been delivered for decades. But a new generation of personalised therapies is beginning to challenge that model – and unless we adapt, patients could miss out. Some of these advanced therapies are made using a person's own cells. Others are built around their genetic code. A few are so sensitive they can't be frozen or stored – they have to be given to the patient within mere minutes of being made. That's a world away from how medicines are typically mass-made and distributed today. In these cases, delays can be critical. Some patients have become too unwell to receive their treatment in time. In others, the medicine simply didn't survive the journey. We need a more flexible, responsive system that meets the needs of modern medicine, not force the medicine to fit an outdated system. That's why this week, the UK became the first country in the world to introduce a new legal framework that allows these advanced medicines to be made at the point of care. Under new regulations introduced by the Medicines and Healthcare products Regulatory Agency (MHRA), hospitals can now carry out the final steps of manufacturing on-site – under the same strict standards, but far more quickly. That means a cancer patient could now have their immune cells collected, modified and returned at the same hospital. A child with a rare genetic disorder can receive a therapy made at their bedside. No more shipping cells hundreds of miles away and hoping they survive the journey back. It also offers a safer alternative for people too unwell to travel, or whose immune systems make hospital visits risky. 'Supporting early access to promising treatments' This is part of a wider effort to modernise the way we support innovation in the UK. We've shortened the time it takes to approve clinical trials to 40 days. We've introduced new routes for authorising medicines already approved by trusted international regulators. And where the evidence is strong and the need is urgent, we support early access to promising treatments. We're paying particular attention to rare diseases, where patients often face the longest waits for new treatments. While each condition may affect only a few people, the overall impact is large: around 3.5 million people in the UK, and an estimated 300 million globally, live with a rare condition. Yet developing treatments is often more difficult, with fewer clinical trial participants and less commercial return. That's why we're offering targeted support. For companies working on rare disease therapies, we've reduced or waived fees and increased access to expert scientific advice. The aim is to make it simpler and more affordable to bring forward safe treatments where there is high need and few other options. We're also supporting smarter ways to generate evidence. For very rare conditions, large-scale trials aren't always possible. We're working with researchers to use high-quality real-world data, like NHS records and patient registries, so that safe and effective treatments aren't held back for lack of traditional trial data. Medical innovation doesn't end with discovery or what's in the vial. It's also about tackling the barriers that stop new treatments reaching patients. That means creating a safe system built for tomorrow's medicines – especially for people with the fewest options – whether by changing how they're approved, how trials are run, or how evidence is gathered. After all, a life-changing treatment only matters because we can deliver it when and where the person needs it.
The Independent
17-07-2025
- Health
- The Independent
Pioneering IVF technique which created eight healthy babies unveiled by researchers
Showing now | News 00:48 Watch a demonstration of the pioneering IVF technique that produced eight healthy babies from the DNA of three people. An animation released by a team of researchers at Newcastle University on Thursday (17 July) details the process of mitochondrial donation therapy, which is aimed at preventing children from inheriting health conditions from their mothers. After the mother's egg has been fertilised the genetic material is placed inside the donor's fertilised egg which has had its nucleus removed, creating a fertilised egg with both full sets of chromosomes from both parents but healthy mitochondria - structures found within cells that produce energy - from the donor. Four boys and four girls have been delivered and have not inherited any of the parents' incurable genetic disorders.
The Guardian
16-07-2025
- Health
- The Guardian
Eight healthy babies born after IVF using DNA from three people
Doctors in the UK have announced the birth of eight healthy babies after performing a groundbreaking procedure that creates IVF embryos with DNA from three people to prevent the children from inheriting incurable genetic disorders. The mothers were all high risk for passing on life-threatening diseases to their babies due to mutations in their mitochondria, the tiny structures that sit inside cells and provide the power they need to function. News of the births and the children's health has been long-anticipated by doctors around the world after the UK changed the law to allow the procedure in 2015. The fertility regulator granted the first licence in 2017 to a fertility clinic at Newcastle University where doctors pioneered the technique. The four boys and four girls, including one set of identical twins, were born to seven women and have no signs of the mitochondrial diseases they were at risk of inheriting. One further pregnancy is ongoing. Prof Doug Turnbull, who was part of the team that spent more than two decades developing the procedure, said the healthy births were reassuring for researchers and the families affected. 'You are inevitably thinking it's great for the patients and that is a relief,' he said. Prof Mary Herbert, another senior member of the team, said to have eight healthy babies from the procedure was 'rewarding for all of us'. The vast majority of a human's 20,000 genes are curled up in the nucleus of nearly every cell in the body. But the fluid surrounding the nucleus contains hundreds to thousands of mitochondria that carry their own set of 37 genes. Mutations in these genes can impair or completely disable mitochondria with catastrophic effects. People inherit all their mitochondria from their biological mother. Mutations in the tiny battery-like structures can affect all the children a woman has. The first symptoms of mitochondrial disease tend to appear in early childhood as energy-hungry organs such as the brain, heart and muscles start to fail. Many affected children have developmental delays, require wheelchairs and die young. About one in 5,000 newborns are affected. Mitochondrial donation treatment, or MDT, aims to prevent children from inheriting mutated mitochondria. The procedure involves fertilising the mother's egg with the father's sperm and then transferring the genetic material from the nucleus into a fertilised healthy donor egg that has had its own nucleus removed. This creates a fertilised egg with a full set of chromosomes from the parents, but healthy mitochondria from the donor. The egg is then implanted into the womb to establish a pregnancy. The first eight babies born to the procedure are described in two papers in the New England Journal of Medicine. All eight were healthy at birth. One child developed a urinary infection that was treated, and another developed muscle jerks that resolved on their own. A third child developed high blood fat and a disturbance in their heart rhythm, which was also treated. The condition is thought to be related to a medical issue the mother had in pregnancy. Genetic tests showed that the babies had no or low levels of mutant mitochondria, with some carried over from the mother during the procedure. While the levels are considered too low to cause disease, it suggests the procedure could still be improved. 'All the children are well and they're continuing to meet their developmental milestones,' said Bobby McFarland, director of the NHS Highly Specialised Service for Rare Mitochondrial Disorders at Newcastle Hospitals NHS Foundation Trust. Five of the children are less than a year old, two are aged between one and two, and the other child is older. The mother of one of the girls said: 'As parents, all we ever wanted was to give our child a healthy start in life. After years of uncertainty this treatment gave us hope – and then it gave us our baby … we're overwhelmed with gratitude. Science gave us a chance.' Some women who carry the genetic disorders produce eggs with varying levels of faulty mitochondria. For them, a technique called pre-implantation genetic testing (PGT) can be used to select eggs for IVF that have a very low chance of passing on a disease. Other women do not have this choice because all their eggs have high levels of mutations. The Newcastle team said 8 of 22 (36%) of women became pregnant after MDT and 16 of 39 (41%) of women became pregnant after PGT. It is unclear why the rates differed, but some mitochondrial mutations may have knock-on effects on fertility. Writing in an accompanying editorial, Robin Lovell-Badge, a principal group leader at the Francis Crick Institute in London, said the long road to this point had 'no doubt been frustrating to women at risk of having children with mtDNA disease', but praised the scientists' cautious approach.
