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.

BARCELONA, Jan 10 (Reuters) - Spanish pharma company Grifols (GRLS.MC) said on Wednesday it would launch legal action against Gotham City Research after the short-seller fund published a critical report that wiped $2.5 billion off the Barcelona-based firm's market value on Tuesday. After shedding 2% earlier on Wednesday, Grifols shares reversed to trade 7.4% higher in the early afternoon, after the firm said it would seek compensation in court for the financial and reputational damage to the company and its shareholders. Board member Tomas Daga, who sits on Grifols' audit committee and has advised it as a lawyer on several acquisitions, told Reuters the lawsuit would seek compensation at least equivalent to the share price loss. Grifols did not say when or where it would file the lawsuit. Its shares closed down 26% on Tuesday after slumping as much as 42% earlier in the day. Daga added the company, which makes medicines with human blood plasma, would hold a conference call with investors on Thursday. Grifols earlier said the Gotham City report was based on "false information" and denied all the allegations within it. Gotham City 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. The yield on Grifols' October 2028 bond , which pays a 3.875% coupon, was 0.42 percentage points lower on the day at 7.33% on the Marketaxess platform. Gotham City also questioned the financial links between Grifols and Scranton Enterprises, an investment vehicle linked to the founding Grifols family. Spain's CNMV stock market supervisor said on Tuesday it aimed to clarify the situation, but that it made "no sense to question the integrity of Grifols' audited accounts". In a note on Wednesday, Mirabaud Research analysts described Gotham City's report as "partial", but added it highlighted some accounting practices and ties with related parties that they said Grifols should abandon. Short-sellers bet on share prices falls. General Industrial Partners, a joint venture between hedge funds Gotham City Research and Portsea Asset Management, said in a filing to CNMV that it had cut its short position in Grifols to 0.06% as of Tuesday from 0.57% previously. ($1 = 0.9133 euros) Reporting by Joan Faus, Inti Landauro and Danilo Masoni; Editing by Andrei Khalip and Mark Potter Our Standards: The Thomson Reuters Trust Principles.