Autonomous University of Barcelona

By analysing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains. By analysing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains. The team identified six cases of Down syndrome and one case of Edwards syndrome in human populations that were living in Spain, Bulgaria, Finland, and Greece from as long ago as 4,500 years before today. The research indicated that these individuals were buried with care, and often with special grave goods, showing that they were appreciated as members of their ancient societies. The global collaborative study, led by first author Dr Adam "Ben" Rohrlach of the University of Adelaide, and senior author Dr Kay Prüfer of the Max Planck Institute for Evolutionary Anthropology, involved screening DNA from approximately 10,000 ancient and pre-modern humans for evidence of autosomal trisomies, a condition where people carry an extra (third) copy of one of the first 22 chromosomes. "Using a new statistical model, we screened the DNA extracted from human remains from the Mesolithic, Neolithic, Bronze and Iron Ages all the way up to the mid-1800s. We identified six cases of Down syndrome," says Dr Rohrlach, a statistician from the University of Adelaide's School of Mathematical Sciences. "While we expected that people with Down syndrome certainly existed in the past, this is the first time we've been able to reliably detect cases in ancient remains, as they can't be confidently diagnosed by looking at the skeletal remains alone." Down syndrome occurs when an individual carries an extra copy of chromosome 21. The researchers were able to find these six cases using a novel Bayesian approach to accurately and efficiently screen tens of thousands of ancient DNA samples. "The statistical model identifies when an individual has approximately 50 per cent too much DNA that comes from one specific chromosome," says Dr Patxuka de-Miguel-Ibáñez of the University of Alicante, and lead osteologist for the Spanish sites. "We then compared the remains of the individuals with Down syndrome for common skeletal abnormalities such as irregular bone growth, or porosity of the skull bones, which may help to identify future cases of Down syndrome when ancient DNA can't be recovered." The study also uncovered one case of Edwards syndrome, a rare condition caused by three copies of chromosome 18, that comes with far more severe symptoms than Down syndrome. The remains indicated severe abnormalities in bone growth, and an age of death of approximately 40 weeks gestation. All of the cases were detected in perinatal or infant burials, but from different cultures and time periods. "These individuals were buried according to either the standard practices of their time or were in some way treated specially. This indicates that they were acknowledged as members of their community and were not treated differently in death," says Dr Rohrlach. "Interestingly, we discovered the only case of Edwards syndrome, and a noticeable increase in cases of Down syndrome, in individuals from the Early Iron Age in Spain. The remains could not confirm that these babies survived to birth, but they were among the infants buried within homes at the settlement, or within other important buildings," says Professor Roberto Risch, co-author and archaeologist from The Autonomous University of Barcelona. "We don't know why this happened, as most people were cremated during this time, but it appears as if they were purposefully choosing these infants for special burials." The research has been published in the journal Nature Communications and was part of a large collaborative project involving researchers from the University of Adelaide, including Dr Adam "Ben" Rohrlach, Dr Jonathan Tuke and Associate Professor Bastien Llamas, as well as researchers from across the world, including at the Max Planck Institute for Evolutionary Anthropology in Germany where the data was generated.

Kriya Therapeutics is diving into the nonalcoholic steatohepatitis space with newly acquired Tramontane Therapeutics. While it’s been a rocky year for many, everything is smooth sailing at Kriya Therapeutics—one of biotech’s top money raisers last year—as it continues its acquisition streak. This time, Kriya has snapped up Tramontane Therapeutics and will be developing a nonalcoholic steatohepatitis (NASH) program sourced from the gene therapy biotech. Kriya now wholly owns the Autonomous University of Barcelona (Universitat Autònoma de Barcelona, or UAB) spinout and its neurodegenerative- and metabolic-disease-focused portfolio of fibroblast growth factor 21 (FGF21) assets. Financial details of the deal were not disclosed. Tramontane’s lead program is an adeno-associated virus-vector-powered therapy made to express a consistent level of the native FGF21 protein, which can have beneficial metabolic effects across several organs and is a biological target in NASH, a severe form of nonalcoholic fatty liver disease. NASH can progress to fibrosis, also known as liver scarring, and potentially lead to irreversible damage known as cirrhosis or even liver failure.   "We are very impressed with the data associated with the Tramontane FGF21 program, which has consistently established strong efficacy and durability across multiple validated animal models of obesity and NASH," Kriya co-founder and CEO Shankar Ramaswamy, M.D., said about the one-time intramuscular gene therapy. "The addition of Tramontane’s FGF21 program strategically aligns with our metabolic disease portfolio which also includes a one-time gene therapy candidate for insulin-dependent diabetes."  Kriya touts a pipeline of gene therapies for ophthalmology, neurology and metabolic disease, but this marks the company’s first dive into the crowded NASH space. Currently, there aren’t any approved treatments available for stopping or reversing the condition, with Vantage estimating that the market could grow to $108.4 billion worldwide by 2030. Kriya’s portfolio, meanwhile, is bolstered by the more than $600 million raised to date. Last year, the biotech scored the fifth largest private biotech fundraise of 2022, raking in a $270 million series C in May of that year. That round was boosted by a further $150 million extension this past July, bringing the round's total to $430 million.    The company’s strategy is to build a gene therapy provider, starting with the manufacturing footprint. Just three months after closing its series A in May 2020, the company secured an operational manufacturing facility in North Carolina. Since then, Kriya has bought up smaller gene therapy companies and penned new licensing pacts to bulk up its early-stage pipeline. In November, the biotech bought out Redpin Therapeutics for an undisclosed amount. The acquisition added neurology treatments to Kriya’s pipeline, namely for epilepsy and trigeminal neuralgia.

People who start taking medication soon after the first signs of multiple sclerosis (MS) may have a lower risk of disability later, according to a new study. People who start taking medication soon after the first signs of multiple sclerosis (MS) may have a lower risk of disability later, according to a study published in the July 19, 2023, online issue of Neurology®, the medical journal of the American Academy of Neurology. MS is a disease in which the body's immune system attacks myelin, the fatty white substance that insulates and protects the nerves. Symptoms of MS may include fatigue, numbness, tingling or difficulty walking. "When it comes to MS treatment, the earlier the better," said study author Alvaro Cobo-Calvo, MD, PhD, of the Multiple Sclerosis Center of Catalonia and the Autonomous University of Barcelona in Spain. "Our study found that starting treatment within six months after the first symptoms is associated with a lower risk of disability over time." For the study, researchers looked at 580 people with a first episode of symptoms, such as tingling, numbness, muscle weakness or problems with balance, who received at least one disease-modifying drug. Researchers divided participants into three groups: 194 people who had their first treatment with an MS drug within six months after the first episode of symptoms, 192 people who had first treatment between six months and 16 months, and 194 people who had first treatment after more than 16 months. Researchers monitored people's disability levels and brain scans for damage to the brain and spinal cord from the disease for an average of 11 years. Disability scores ranged from zero to 10, with higher scores indicating more disability. The earliest treatment group had a 45% lower risk of reaching a disability score of three by the end of the study than those in the latest treatment group. A score of three indicates people can still walk unassisted but have moderate disability in one of eight areas, such as motor function, vision or thinking skills, or mild disability in three or four areas. A total of 42 people in the earliest treatment group, or 23%, reached a score of three, compared to 75 people, or 43%, in the latest treatment group. The earliest treatment group also had a 60% lower risk of moving to the next stage of the disease, called secondary progressive MS, than people in the latest treatment group. In this stage, disability gets steadily worse. A total of 14 people in the earliest treatment group, or 7%, were diagnosed with secondary progressive MS compared to 43 people in the latest treatment group, or 23%. They also found that people with the earliest treatment were 50% more likely to remain stable at their disease level one year after their initial treatment than those in the latest treatment group. "Altogether, our results support the robustness and effectiveness of very early treatment to halt long-term disability progression, and stress that earlier detection and treatment is encouraged," Cobo-Calvo said. Researchers also found that people from the earliest treatment group had a lower disability progression rate and lower severe disability in a self-reported test compared to those in the latest treatment group. A limitation of the study was that it only included patients between ages 16 to 50 at the time of first symptoms, so the results could not be applied to patients over age 50, or late-onset multiple sclerosis. The study was supported by the European Regional Development Fund, Carlos III Health Institute, Spanish Multiple Sclerosis Network and the Agency for Management of University and Research Grants in Spain.