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Tag Archives: identifying
Genome sequencing trial to test benefits of identifying genetic diseases at birth | Genetics
Genomics England is to test whether sequencing babies’ genomes at birth could help speed up the diagnosis of about 200 rare genetic diseases, and ensure faster access to treatment.
The study, which will sequence the genomes of 100,000 babies over the next two years, will explore the cost-effectiveness of the approach, as well as how willing new parents are to accept it.
Although researchers will only search babies’ genomes for genetic conditions that surface during early childhood, and for which an effective treatment already exists, their sequences will be held on file. This could open the door to further tests that could identify untreatable adult onset conditions, or other genetically determined traits, in the future.
“One challenging thing with newborn genomes is that they will potentially accompany people from cradle to grave,” said Sarah Norcross, director of the Progress Educational Trust (PET), an independent charity that improves choices for people affected by infertility and genetic conditions.
Ensuring the privacy of this data is therefore essential. “People must be able to trust that any data collected will only be used in the agreed way, and for the stated purpose,” Norcross said.
Each year, approximately 3,000 children are born in the UK with a treatable rare condition that could be detected using genome sequencing. Although newborn babies are currently offered a heel-prick test to screen their blood for signs of nine rare but serious conditions, such as sickle cell disease and cystic fibrosis, whole genome sequencing could enable hundreds more such conditions to be diagnosed at birth.
Currently, such diseases are usually only diagnosed once a child develops symptoms, often after months or years of tests. One such condition is biotinidase deficiency, an inherited disorder in which the body is unable to recycle the vitamin biotin. Affected children may experience seizures and delays in reaching developmental milestones, and have problems with vision or hearing, but early diagnosis and treatment with biotin supplements can prevent this deterioration and keep them healthy.
Dr Richard Scott, chief medical officer at Genomics England, said: “At the moment, the average time to diagnosis in a rare disease is about five years. This can be an extraordinary ordeal for families, and it also puts pressure on the health system. The question this programme is responding to is: ‘is there a way that we can get ahead of this?’”
The study aims to recruit 100,000 newborn children to undergo voluntary whole genome sequencing over the next two years, to assess the feasibility and effectiveness of the technology – including whether it could save the NHS money by preventing serious illness.
It will also explore how researchers might access an anonymised version of this database to study people as they grow older, and whether a person’s genome might be used throughout their lives to inform future healthcare decisions. For instance, if someone develops cancer when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them.
According to research commissioned by PET earlier this year, 57% of the UK public would support the storage of genetic data in a national database, provided it were only accessible to the sequenced individual and healthcare professionals involved in their care. Only 12% of people opposed this.
Of greater concern would be the storage of a person’s genetic data for use by government authorities including the police, with the person being identifiable to those authorities. This was supported by 40% of people, and opposed by 25%. Norcross said that while Genomics England has good safeguards in place for providing research access to genomic data, “this risk can never be eliminated completely”.
Scott stressed that the purpose of the trial was to explore whether the potential benefits of newborn sequencing stack up, and engage in a genuine national debate about whether the technology is something people feel comfortable with. “The bottom line here is about us taking a cautious approach, and developing a view jointly nationally about what the right approach is, and what the right safeguards are,” he said.
Others raised concerns about the potential for false or uncertain results. Frances Flinter, emeritus professor of clinical genetics at Guy’s & St Thomas NHS foundation trust, and a member of the Nuffield council on bioethics, said: “Using whole genome sequencing to screen newborn babies is a step into the unknown. Getting the balance of benefit and harm right will be crucial. The potential benefits are early diagnosis and treatment for more babies with genetic conditions. The potential harms are false or uncertain results, unnecessary anxiety for parents, and a lack of good follow-up care for babies with a positive screening result.
“We must not race to use this technology before both the science and ethics are ready. This research programme could provide new and important evidence on both. We just hope the question of whether we should be doing this at all is still open.”
Payments giants to apply new code identifying sales at U.S. gun stores
Fire arms are seen at the Bobâs Little Sport Gun Shop in the town of Glassboro, New Jersey, United States on May 26, 2022.
Tayfun Coskun | Anadolu Agency | Getty Images
Visa, the world’s largest payments processor, said on Saturday it will implement a new merchant category code for U.S. gun retailers, which will identify transactions at firearms stores.
The International Organization for Standardization (ISO) approved creation of the merchant code on Friday following pressure from gun-control activists who say it will help track suspicious weapons purchases.
“Following ISO’s decision to establish a new merchant category code, Visa will proceed with next steps, while ensuring we protect all legal commerce on the Visa network in accordance with our long-standing rules,” Visa said in a statement.
Mastercard said on Friday that following ISO’s approval, “we now turn our focus to how it will be implemented by merchants and their banks as we continue to support lawful purchases on our network while protecting the privacy and decisions of individual cardholders.”
American Express said when ISO develops a new code, the company will work with third-party processors and partners on implementation.
The code will show where an individual spends money but not what items were purchased.
Several top U.S. pension funds including those for government workers in New York City and California had submitted shareholder resolutions asking payment companies to weigh in on the issue.
Some gun-rights activists have worried the new code could lead to unauthorized surveillance.
Mass shootings this year, including at a Texas elementary school that killed 19 children and two teachers, have added to the long-running U.S. debate over gun control.
U.S. President Joe Biden has called for Congress to pass an assault weapons ban as well as $37 billion for crime prevention programs, with $13 billion to hire and train an additional 100,000 police officers over the next five years.
Shiba Inu’s [SHIB] new $7.5B milestone – Identifying if whales played a part here
The latest recovery signals in the crypto-market may be seen as evidence of an upcoming bull run. Needless to say, sceptics continue to stay confused about where certain crypto-assets will be 2, 3, and even 5 years from now. Popular memecoin Shiba Inu or SHIB is one such asset that continues to engage the community over its future. In fact, SHIB has now reclaimed a market cap of $7.5 billion on the back of a dramatic price uptick on the charts.
If SHIB closes the day on a positive note tomorrow, it will be the fourth positive week in a row. The last time such a run happened was in late September 2021 when Shiba Inu would eventually hit its all-time high of $0.000088.
At press time, SHIB was trading at $0.00001549 after an uptick of 23% over the last 24 hours.
Let the games begin
The bull activity on Shiba Inu has long been awaited by the SHIB army who continue to back the meme coin. Just recently, SHIB was over 85% off its ATH. However, the aforementioned surge lifted the mood around it. Much of the reason for the bull activity lies in the recent developments around Shiba Inu. There are high expectations in the community regarding the launches of Shibarium (Layer 2) and the Shiba Inu Financial Ecosystem (SHIBFE).
Similar to Ethereum, Shiba Inu also faces issues of network congestion and high gas fees. This further puts the launch of Shibarium in the spotlight as it aims to make transactions cheaper and faster. The Shibarium Public Beta TestNet is expected to be launched this quarter. Meanwhile, the metaverse and the Shiba Inu NFT ecosystem launches are set to launch in Q4 2022.
Here’s a data-dive
According to WhaleStats, the top 2000 Ethereum whales have been actively making huge changes among their holdings. As of 13 August, these whales were holding over $179.34 million worth of Shiba Inu. However, this doesn’t tell us the whole story.
There has a been massive change in these holdings since 3 August when holdings totalled $600 million. This represents lost confidence among the market-maker whales of the community.
🐳 The top 2000 #ETH whales are hodling
$183,386,016 $LOCUS
$179,344,952 $SHIB
$125,917,189 $BIT
$99,059,870 $MKR
$86,701,924 $LINK
$73,805,349 $UNI
$70,267,000 $BEST
$67,516,831 $MANAWhale leaderboard 👇https://t.co/R19lKnPlsK pic.twitter.com/TUe97NPMBb
— WhaleStats (free data on crypto whales) (@WhaleStats) August 13, 2022
Despite the whale factor, there has been a huge spike in profitability among SHIB investors. The MVRV ratio noted a dramatic jump today, with the same valued at 23.32% as per Santiment.
This can further be used to throw light on increasing interest among short-term traders in Shiba Inu, with increasing prices projecting quick returns.
Source: Santiment
The other sign of active accumulation among traders right now is shown in the following chart.
The RSI of Shiba Inu has risen significantly over the last 12 hours. At the time of writing, it was ranging above 90. This means the asset is in a heavily overbought zone. This can also mean a price rebound at some point in the near future. However, for now, Shiba Inu investors are set to enjoy the ride.
Source: Trading View
Scientists hope Webb will be the first step in identifying signs of life in space
Could there be life in space? Scientists hope the James Webb Space Telescope will help them get closer to the answer.
Astronomers have yet to find a solar system quite like ours. And of the thousands of known exoplanets, none quite match up with the planets in our cosmic backyard. But scientists have only just begun to scratch the surface of these planets outside the solar system. The next step is looking inside of them.
Webb will peer into the very atmospheres of exoplanets, some of which are potentially habitable. Since the first exoplanets were discovered in the 1990s, many have wondered if we might find another Earth out there, a place called Planet B.
So far, the study of these bodies hasn’t revealed another Earth, and it’s unlikely that even with technology like the Webb, there won’t be “a true Earth analog” out there, said Klaus Pontoppidan, Webb project scientist at the Space Telescope Science Institute in Baltimore.
Signs of life: The Webb telescope will look inside the atmospheres of exoplanets orbiting much smaller stars than our sun. These planets are connected with an intriguing idea: What if life happens differently outside of Earth? And it’s something that the successors of this telescope could investigate in the decades to come.
In fact, the task of identifying signs of life on other planets is already slated for future telescopes, like the one outlined in the recently released Astro2020 decadal survey that will look at 25 potentially habitable exoplanets.
“I kind of really want us to be able to find life on something that looks not a lot like Earth,” said Nikole Lewis, astrophysicist and an assistant professor of astronomy at Cornell University.
Life, as we understand it, needs energy, liquid and the right temperature, she said. What happens when a potential sign of life is detected? Finding the sign is fantastic — and figuring out the next step is crucial, said Sara Seager, an astrophysicist, planetary scientist and professor at the Massachusetts Institute of Technology.
If it’s determined that there was no other way a potential sign of life could be created, collaboration will be a key aspect, Lewis said. Engaging with chemists, biologists and people of different disciplines outside of astronomy and planetary science can determine the path forward.
“My hope is that we’ll be careful, and that we will engage with all of the relevant experts to try to understand if this is in fact, a signature that could only mean that life is on this planet, and then hopefully announced such a thing to the public,” Lewis said.
Jill Tarter, astronomer and former director of the Center for SETI Research, believes that the answer to finding life may rely on technosignatures, rather than biosignatures, because the evidence of past or present technology is “potentially a lot less ambiguous.”
Biosignatures could be gases or molecules that show signs of life. Technosignatures are signals that could be created by intelligent life.
Read further about the search for life in space here.
Watch more:
Toronto police ask for help identifying ‘highly suspicious’ person in billionaire murder case | Canada
Four years after the unsolved murders of pharmaceutical billionaires Barry and Honey Sherman, police in Toronto have appealed to the public to help identify a possible suspect in the case.
At a media briefing on Tuesday, homicide DS Brandon Price said police had studied hours of CCTV footage taken in the couple’s neighbourhood the night of the murders and had identified all people caught on camera – except for one person.
“We have been unable to determine what this individual’s purpose was in the neighbourhood,” Price said. “This individual’s actions are highly suspicious.”
Police believe the lone figure walking along the street on a snowy night is linked to murders of Barry Sherman, the founder of drug giant Apotex, and his wife Honey. The couple were found dead in the basement pool area of their home in late 2017, with belts looped around their necks and attached to a pool railing.
There were no signs of a break-in at the couple’s house, and police initially believed the deaths to be a murder suicide. But investigators later determined the couple were victims of a “targeted” double homicide.
The footage released Tuesday marks the first time in nearly four years police have updated the public on the investigation.
The poor quality of the video means the the skin colour, weight and gender of the suspect are not known. Police say video analysis suggests the individual is between 5’6 and 5’9 tall. The suspect, who has an unusual gait, walks into an area not captured by any video surveillance, stays for a “suspicious” amount of time, and then leaves.
Price said the footage is not the only video they have of the suspect, but chose to released a clip they believe had the “greatest likelihood” of someone being able to identify the person.
“If you recognize yourself in this video, please come forward so you can be excluded from our investigation,” said Price.
The Shermans were well-known as generous philanthropists, but Barry Sherman was also notoriously litigious in his business dealings. The double murder has gripped the country, not least because so little public progress has been made on the case over the years.
The Sherman family have fiercely criticised the Toronto police investigation. Private investigators hired by the family previously claimed police did not quickly fingerprint house staff with access to the family’s home. They also alleged that police ignored possible evidence of forced entry into the house.
In 2018, the Sherman family offered a C$10m reward for information on who killed Barry and Honey.
Scientists Need Your Help in Identifying New Exoplanets Out in Space
If you’ve always wanted to discover a planet for your very own, now’s your chance. Researchers are calling on the public for help in identifying exoplanets – planets orbiting stars outside of our own Solar System.
The Planet Hunters Next-Generation Transit Search (NGTS), run by an international group of astronomers, has five years’ worth of digital footage that needs sifting through. Your mission, should you choose to accept it, is to spot stars that briefly dim, perhaps suggesting a planet is passing in front of them.
That’s known as a transit by the experts, but you don’t need any experience to get involved in trying to spot one. All you need is a keen eye and some patience to sift through the images collected by the NGTS telescopes based at the European Southern Observatory (ESO) Paranal Observatory in Chile.
“It is exciting to be able to involve the public in our search for planets around other stars,” says astrophysicist Peter Wheatley from the University of Warwick in the UK and the lead of NGTS. “We are pretty sure our computer programs are missing some planets.”
“These will be the most unusual signals and so probably some of the most interesting planets. Humans are still smarter than machines, and I can’t wait to see what our volunteers unearth.”
There’s plenty of data to get through: Every 10 seconds, the NGTS telescopes capture shots of thousands of stars in the sky. Algorithms are used to flag up possible transit events, but these algorithms aren’t perfect.
The software can pick out dimmings that aren’t exoplanets, as well as miss dimmings that are – and that’s where people come in. If you decide to get involved, you’ll be shown charts of light readings taken of stars out in space, known as ‘folded’ light curves, or the measurement of a star’s brightness as it changes over time combined with the software’s read of a planet’s potential orbit.
Your job will be to categorize these charts and identify the shapes that they show, with volunteers and experts cross-checking each finding to try and help identify exoplanets that have otherwise been missed.
One of the folded light curves you’ll have to identify. (NGTS)
“The automated algorithms produce lots and lots of possible candidate transit events that need to be reviewed by the NGTS team to confirm whether they are real or not,” says astronomer Meg Schwamb, from Queen’s University Belfast in the UK.
“Most of the things spotted by the computers are not due to exoplanets, but a small handful of these candidates are new bona fide planet discoveries.”
Head over to the Planet Hunters NGST page to get started. There’s no application process or fee – all you need is a web browser and a passion for making scientific discoveries. Thousands of volunteers have already got involved, but there’s still a lot of work to do.
These kinds of citizen science discoveries are more common than you might think. From the Australian mechanic who spotted an unusual four-planet solar system, to the amateur metal detectorist from Britain who came across a huge cache of ancient Roman treasures.
Plenty of help is available if you get stuck, and who knows – you might end up making a vital contribution in the hunt for planets outside of our neighborhood.
US Marshals seek help in identifying fan at Dodgers game resembling Most Wanted fugitive
Federal authorities are asking for help identifying a fan spotted at a 2016 Los Angeles Dodgers game who resembles a most-wanted fugitive who has been on the run for 23 years.
John Ruffo, now 66, was convicted of a $350 million bank fraud scheme in the late 1990s – one of the largest bank fraud scams in American history – and sentenced to 17-and-a-half years in prison, the U.S. Marshals Service said. About $13 million was never recovered.
BRIAN LAUNDRIE SHOULD SURRENDER, FORMER FUGITIVE SAYS
However, Ruffo failed to report to a federal prison in New Jersey on Nov. 9, 1998, following his conviction. Investigators quickly determined that Ruffo had driven a car, which he was believed to have rented earlier that day in Manhattan, to a long-term parking lot at John F. Kennedy Airport.
Ruffo’s last confirmed sighting was in surveillance footage on Nov. 9, 1998, as he withdrew money from an ATM on his way to John F. Kennedy Airport.
(U.S. Marshals Service )
Ruffo’s last confirmed sighting was in surveillance footage as he withdrew money from an ATM on his way to the airport.
In September 2016, investigators received a tip that Ruffo attended a major league baseball game between the Boston Red Sox and Los Angeles Dodgers at Dodgers Stadium on Aug. 5, 2016.
Ruffo was believed to have been spotted at a Los Angeles Dodgers baseball game on Aug. 5, 2016. Investigators were never able to identify the fan at the game and are now asking the public for help.
(U.S. Marshals Service )
The tipster said Ruffo was sitting a few rows up behind home plate and wearing a blue shirt. Investigators reviewed footage from the game and confirmed that a bald, white male with a mustache, and wearing a blue shirt was sitting in Section 1 Dugout Club, Row EE, Seat 10 behind the plate.
While investigators identified those who purchased the seats, they have never been able to identify the man in the blue shirt.
Investigators released an an age-progression rendering of what the now 66-year-old Ruffo may look like today.
(U.S. Marshals Service )
Ruffo stood 5 feet, 5 inches and weighed approximately 170 pounds in 1998. Investigators described Ruffo as computer savvy with a penchant for fine wines, gambling and nice hotels.
“Ruffo was known to be a storyteller, someone who liked to stretch the truth, and had a desire to impress others,” investigators said. “He has been called a master manipulator.”
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He is reportedly lactose intolerant and is known to have extensive international connections thanks to his time as a New York businessman.
Ruffo has previously traveled to Aruba and had shown a particular interest in Italy, where he had traveled in the past. Investigators said there is a strong likelihood Ruffo is living overseas.
A reward of up to $25,000 is offered for information leading directly to Ruffo’s arrest.
FBI Omaha asking for help identifying Jane Doe 43
On Wednesday, FBI Omaha announced they were seeking public assistance identifying an unknown individual “Jane Doe 43.” “It is believed that this individual may have critical information pertaining to the identity of a child victim in a sexual exploitation investigation,” a report states.FBI officials believe a video depicting “Jane Doe 43” was believed to have been produced October 2019. She was heard speaking English in the video.She is described as a white female, likely between the ages of 20 and 30 years old. Anyone with information concerning this case should call the FBI’s toll-free tip-line at 1-800-CALL-FBI (1-800-225-5324).
On Wednesday, FBI Omaha announced they were seeking public assistance identifying an unknown individual “Jane Doe 43.”
“It is believed that this individual may have critical information pertaining to the identity of a child victim in a sexual exploitation investigation,” a report states.
FBI officials believe a video depicting “Jane Doe 43” was believed to have been produced October 2019. She was heard speaking English in the video.
She is described as a white female, likely between the ages of 20 and 30 years old.
Anyone with information concerning this case should call the FBI’s toll-free tip-line at 1-800-CALL-FBI (1-800-225-5324).