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This lab’s gene test can find more rare diseases. This is what it can do for the ‘diagnostic odyssey’ of families.

Published Wed, 25 Dec 2024 05:49:23 GMT

There are more than 7,000 rare disorders, and many cannot be diagnosed in a doctor’s office.That’s why genetic sequencing is so important.Now The Jackson Laboratory in Farmington is able to sequence the entire genome, an advance that will roughly double the number of rare diseases that can be positively diagnosed. It’s the only whole-genome sequencing test offered in Connecticut.Until next-generation genome sequencing became available about 10 years ago, there was no way for many rare disorders to be accurately diagnosed, according to Melissa Kelly, clinical laboratory director at the Jackson lab.Previously, Sanger sequencing, developed in 1977, was too slow to be useful.“There’s been studies on this actually, how many missed diagnoses patients will have prior to getting their actual diagnosis from a genome, and it’s something like seven,” Kelly said.“It’s crazy how many times these patients get told the wrong thing, or get told nothing,” she said. “No one can tell them an answer at...

Cassidy Hutchinson’s new book says Mark Meadows’ suits smelled ‘like a bonfire’ from burning papers

Published Wed, 25 Dec 2024 05:49:23 GMT

NEW YORK (AP) — A former aide in Donald Trump’s White House says chief of staff Mark Meadows burned papers so often after the 2020 election that it left his office smoky and even prompted his wife to complain that his suits smelled “like a bonfire.”Cassidy Hutchinson, who was a prominent congressional witness against former President Trump before the House Jan. 6 committee, described the burning papers in a new book set to be released Tuesday. The Associated Press obtained a copy of the book, “Enough.”Hutchinson was a White House staffer in her 20s who worked for Meadows and testified for two hours on national television about the White House’s inner workings leading up to and including the Jan. 6, 2021, insurrection at the U.S. Capitol. Trump and Meadows tried to challenge the former president’s election loss in several states. Both are under indictment in Georgia for what prosecutors have called an illegal conspiracy to overturn the results. In her book, Hutchinson wri...

A new battery recycling facility will deepen Kentucky’s ties to the electric vehicle sector

Published Wed, 25 Dec 2024 05:49:23 GMT

A recycling facility will be built in Kentucky to shred electric vehicle batteries in a $65 million venture between American and South Korean companies that will supply material for a separate battery-related operation in the same town, the companies announced Tuesday.The 100,000-square-foot (9,000-square meter) EV battery recycling facility to be built in Hopkinsville will create about 60 jobs, according to U.S.-based Ascend Elements, which is partnering with South Korea-based SK ecoplant and its electronic-waste recycling subsidiary, TES, on the project. Construction is set to begin in November and be completed in January 2025. Hopkinsville is 170 miles (274 kilometers) southwest of Louisville, Kentucky.“This is just the beginning of an entirely new industry in the United States,” Mike O’Kronley, CEO of Ascend Elements, said in a news release. “For every new EV battery gigafactory that is built, we will need to build a new battery recycling facility to process manufacturing ...

Moscow court upholds 19-year prison sentence for Russian opposition politician Alexei Navalny

Published Wed, 25 Dec 2024 05:49:23 GMT

MOSCOW (AP) — A court in Moscow upheld a 19-year prison sentence Tuesday for imprisoned Russian opposition leader Alexei Navalny, who was convicted on charges of extremism in August. Navalny was found guilty on charges related to the activities of his anti-corruption foundation and statements by his top associates. It was his fifth criminal conviction and his third and longest prison term — all of which his supporters see as a deliberate Kremlin strategy to silence its most ardent opponent.Navalny’s 19-year sentence will be backdated to Jan. 17, 2021, the day he was arrested. He was already serving a nine-year term on a variety of charges that he says were politically motivated before Tuesday’s ruling.One of Navalny’s associates, Daniel Kholodny, who stood trial alongside him, also had his eight-year sentenced upheld Tuesday, according to the Russian state news agency Tass. Navalny’s team said after the ruling Tuesday that the sentence was “disgraceful” and vowed to cont...

Israel strikes militant sites in Gaza as unrest continues, no casualties

Published Wed, 25 Dec 2024 05:49:23 GMT

GAZA CITY, Gaza Strip (AP) — Israeli airstrikes hit several targets in the Gaza Strip on Tuesday, the country’s military said, after Palestinian protesters flocked for the 12th straight day to the enclave’s frontier with Israel — demonstrations that have devolved into violent clashes with Israeli security forces. There were no reports of casualties in Gaza from the Israeli airstrikes. The Israeli army said that it used a drone, helicopter and tank to strike multiple posts in northern and southern Gaza belonging to the strip’s militant Hamas rulers in response to what it described as “violent riots” at the separation fence between Gaza and Israel. The protests involve Palestinians throwing stones and explosive devices, burning tires and, according to the Israeli military, shooting at Israeli soldiers. Palestinian health officials reported that Israeli forces shot and wounded 11 protesters during Tuesday’s rally. Hamas, the Islamic militant group that seized co...

After briefing on intel, Singh says ‘clear evidence’ India involved in B.C. killing

Published Wed, 25 Dec 2024 05:49:23 GMT

OTTAWA — Federal NDP Leader Jagmeet Singh says he received an intelligence briefing about allegations that the Indian government could be behind the killing of a Sikh leader in British Columbia. Singh says after learning more information, he can “confirm” that “clear evidence” of India’s involvement exists.He received the briefing days after Prime Minister Justin Trudeau told the House of Commons about “credible allegations,” which India has denied amid escalating tensions between the two countries. Singh told reporters today that he was able to request the briefing because of the security clearance he obtained in order to review foreign-interference materials prepared by former special rapporteur David Johnston. He says Trudeau told him and Conservative Leader Pierre Poilievre about the allegations before sharing them publicly.He got a briefing from Trudeau’s national security adviser, Jody Thomas, three days later. This report by The...

Donatella Versace slams Italian government’s anti-gay policies from La Scala stage

Published Wed, 25 Dec 2024 05:49:23 GMT

MILAN (AP) — Donatella Versace slammed the Italian government for what she described as anti-gay policies in a heartfelt and personal speech that referenced her late brother, Gianni Versace, while receiving a fashion award this weekend.“Our government is trying to take away people’s rights to live as they wish,” Versace said in a speech Sunday night, citing in particular a government policy that allows only the biological parent in same-sex couples to be officially recognized as the parent. “They are restricting our freedoms,” she said.“We must all fight for freedom, in a time that still sees trans people suffering terrible violence, a time when children of same-sex couples are not considered their children, a time when minority voices are attacked by new laws,” Versace said.The speech received a standing ovation from a fashion crowd at La Scala, where Versace received a humanitarian award.Gay rights activists praised her for clearly challenging the government’s actions,...

Serbia demands that NATO take over policing of northern Kosovo after a deadly shootout

Published Wed, 25 Dec 2024 05:49:23 GMT

BELGRADE, Serbia (AP) — Serbia’s president demanded Tuesday to have a NATO-led peacekeeping force take over for the national law enforcement agency in northern Kosovo after a daylong shootout between armed Serbs and Kosovar police left one officer and three gunmen dead.In one of the worst confrontations since Kosovo declared independence from Serbia in 2008, about 30 masked men opened fire on a police patrol near the village of Banjska early Sunday then broke down the gates of a Serbian Orthodox monastery and barricaded themselves with the priests and visiting pilgrims.The violence further raised tensions in the Balkan region at a time when European Union and U.S. mediators have been pushing for a deal that would normalize ties between former wartime foes Serbia and Kosovo. A NATO bombing campaign on Serb positions in Kosovo led to the end of the 1998-99 war. Serbian President Aleksandar Vucic met with ambassadors from five Western countries and the EU in Belgrade on Tuesday. He sai...

At least four people hurt in helicopter crash east of Prince George, B.C.

Published Wed, 25 Dec 2024 05:49:23 GMT

PRINCE GEORGE, B.C. — BC Emergency Health Services said at least four people have been injured in a helicopter crash east of Prince George, in central B.C. The service says the call came in just before 8 a.m. and six ambulances attended where paramedics treated and transported the four to hospital. Prince George RCMP say emergency crews gathered at the site where the chopper went down near the Purden Ski Hill, a mountain resort off Highway 16. Cpl. Jennifer Cooper said the extent of the injuries to those on board is not known, and the area around the crash site has no cellphone coverage. Cooper said they don’t know why the helicopter was in the area, but they know it was not a forestry crew aboard.She said details on the cause of the crash are still being investigated, and the Transportation Safety Board would be taking the lead on the investigation since the accident involved an aircraft.“It is possible that emergency crews will be accessing the highway frequently and w...

Biden visits UAW picket line, tells union to ‘stick with it’

Published Wed, 25 Dec 2024 05:49:23 GMT

VAN BUREN TOWNSHIP, Mich. (AP) — President Joe Biden joined United Auto Workers strikers on their picket line Tuesday as their work stoppage against major carmakers hit day 12, a demonstration of support for organized labor apparently unparalleled in presidential history.“You deserve the significant raise you need,” Biden said through a bullhorn while wearing a union baseball cap after arriving at a General Motors parts distribution warehouse located in a suburb west of Detroit.He walked along the picket line, exchanging fist bumps with grinning workers.He encouraged them to continue fighting for better wages despite concerns that a prolonged strike could damage the economy, saying “stick with it.”He said “yes” when asked if UAW members deserved a 40% raise, one of the demands that the union has made.“No deal, no wheels!” workers chanted as Biden arrived. “No pay, no parts!”He was joined by UAW President Shawn Fain, who rode with him in the presidential limousine to the picket...