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.

BARCELONA, Jan 19 (Reuters) - Drugmaker Grifols (GRLS.MC) , opens new tab will meet an imminent deadline for a request for information from Spain's stock market watchdog after a short-seller report sent the shareprice tumbling, Grifols board member Tomas Daga said. Stock market supervisor CNMV set a 10-day deadline that expires next week for a reply to its questions concerning a Gotham City Research report that on Jan. 9 questioned the Spanish drugmaker's accounting. It is unclear precisely when the deadline ends. Grifols declined to comment on Friday, although it has denied any wrongdoing. Scranton did not respond to a request for comment on Friday. Daga holds shares in Grifols investment vehicle Scranton, as well as sitting on Grifols' board and its audit committee. He told Reuters in an interview, he would encourage Scranton, which is Grifols' second largest shareholder with an 8% stake, to offer public explanations about its organisation, including its shareholders, at some point. "Scranton is now in silence. At a certain moment, Scranton will have to come out, present itself publicly and explain everything," he said, which he added should help to calm the market. On Friday, Grifols received a boost when ratings agency S&P kept its 'B+' rating for the company, with a stable outlook for 2024. Its share still closed 0.5% down on Friday in Madrid, and has lost 41% since the Gotham City report. Daga said the CNMV asked Grifols to explain certain transactions it had already sought more details about in 2019. Grifols has previously said the CNMV then asked for accounting information related to the 2018 sale of blood donation firm Haema AG and plasma donation company BPC Plasma from Grifols to Scranton Enterprises, an investment vehicle linked to the founding Grifols family. Daga said Scranton acquired Haema and BPC to help Grifols financially, and had "no interest in having all of this". In its report, Gotham City said that both Grifols and Scranton fully consolidate in their accounts Haema and BPC Plasma. Grifols said last week it is required to do so because it holds a call option. Gotham City also questioned Grifols' reported debt and earnings before interest, taxes, depreciation and amortisation (EBITDA), and leverage ratio of 6.7 times. It said the leverage ratio was close to 10 to 13 times EBITDA.

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.