Hijacking a virus to deliver genes to the brain

first_img @meggophone [email protected] Tags blood-brain barrierdrug deliverygene therapy Biologists have hijacked a virus to nix its harmful properties and harness its ability to enter the brain through the bloodstream. At least in mice, the virus can deliver genes to certain cells in the nervous system by bypassing the blood-brain barrier that often trips therapies up. Here’s what lead researchers Ben Deverman and Viviana Gradinaru of Caltech said about the findings, published in Nature Biotechnology. Medical first: Brain tumor breached with ultrasound By Megan Thielking Feb. 2, 2016 Reprints What’s the problem with current gene delivery into the brain?Usually gene delivery is done by invasive local injections. You take a needle, make a hole in the skull, and inject a few milliliters of a vesicle that delivers the gene. So you have a lot of copies of your delivery target locally at that injection site, but it dies down as the gene moves further from the injection site. If you want to deliver genes for research or therapy purposes, you want uniformity.What did you do to push for that uniformity?Our method is delivering it to the [network of blood vessels] since the vasculature touches nearly every cell in the brain. We took a virus that was known to cross the blood-brain barrier very efficiently and we evolved a variant of that. What makes these viruses attractive as gene delivery vehicles…is that we can strip them of all the viral genes.advertisement News Editorcenter_img A method using viruses may be able to deliver therapeutic genes to the brain. Above, green fluorescent protein (GFP) is shown in the mouse cerebellum after the GFP gene is delivered using the method. Ben Deverman and the Gradinaru laboratory/Caltech Megan Thielking Lab ChatHijacking a virus to deliver genes to the brain Related: About the Author Reprints What are the limitations of that finding?Although these viruses have been used in research, they’re not very well characterized. We don’t understand the mechanism for how it crosses the blood-brain barrier. This method also takes very high doses of viruses, so we’re trying to make it more efficient.For more Lab Chats, subscribe to the free Morning Rounds newsletter.last_img read more

Senate confirms Robert Califf as new FDA chief, ending battle for top job

first_img He may get pulled into the debate over drug prices, too. At several hearings, lawmakers have criticized the FDA for failing to approve generic drugs quickly enough to bring the overall cost of prescription drugs down. In addition, some say the FDA should push brand-name drug manufacturers to hold down their prices, something that few people outside of Congress believe the agency currently has the statutory power to do.As US cases of the mosquito-borne Zika virus rise, Califf will also have to ensure the blood supply is safe, and push to speed testing and approval of potential vaccines against the disease. The National Institutes of Health and private companies are working to develop a Zika vaccine.And Califf will have to prove that he’s willing to push the FDA to take a harder line against the overuse of opioids — one of the issues that stalled his final approval by the Senate.“There’s a lot on his plate,” said Mary Woolley, president of Research!America, a DC-based group that pushes for public scientific research support. But Woolley, who has known Califf for many years, called him a great choice for the job. “I can’t say it enough,” Markey said on the Senate floor Tuesday. “Eighty percent of all people in the United States who die from heroin overdoses began on prescription painkillers, opioids that have been given to them by physicians.”“The nomination for Robert Califf to be the new head of the FDA gives us the opportunity to talk about this issue,” Markey added. “We have to now have an honest discussion about the role that agency is playing.”Manchin said he still believed that Califf is too close to the pharmaceutical industry to take appropriate action.“I believe the FDA must break its cozy relationship with the pharmaceutical industry,” said Manchin. Califf, he said, is “just not that person with the passion to change the culture in this important agency. We’ve let the sleeping giant go far too long.”Califf doesn’t seem to be planning a sluggish approach.In written responses to questions from Republican Senator Lamar Alexander of Tennessee, the chairman of the Senate Health, Education, Labor, and Pensions Committee, for his confirmation hearing in November, Califf sketched out his priorities for the job.Key among them is a plan to streamline clinical trials, to reduce their cost and give Americans quicker access to new medications while maintaining high safety standards. Califf said the agency can do so by adopting a two-tier system, using limited, focused trials for medications expected to make a big impact on a small population, and very large trials using electronic heath records and social media. Dr. Robert Califf will have to balance the competing pressures on the FDA for faster approvals and safe products. Win McNamee/Getty Images Califf wins Senate panel vote, but faces trouble on food labeling By Sheila Kaplan Feb. 24, 2016 Reprints PoliticsSenate confirms Robert Califf as new FDA chief, ending battle for top job Tags CongressFDApolicyRobert Califf “He is so well suited, by virtue of his long commitment to clinical research, to working across sectors public and private” to achieve the goals of speedier medical innovation and faster approvals of safe drugs and devices, Woolley said.It has been a long haul. Califf, a cardiologist, was vice chancellor of clinical and translational research at Duke University before taking the number two spot at the FDA in February 2015. The last FDA chief, Dr. Margaret Hamburg, stepped down in March of the same year.Since President Obama nominated Califf to replace Hamburg, he has won the support of many medical societies, patient advocacy groups, academics, and even the New England Medical Journal.But he has had to appease critics who contended that his past reliance on pharmaceutical industry money leaves him too close to the pharmaceutical companies to be an effective cop on the beat.His opponents, led by Democratic Senators Edward Markey of Massachusetts and Joe Manchin of West Virginia, vowed to spend as much as 30 hours talking on the Senate floor about Califf’s shortcomings after a procedural vote on Monday removed their ability to block his confirmation. But in reality, they and their Senate allies only managed to talk for a few hours on Tuesday as their colleagues moved on to other issues.Both Markey and Manchin voted against Califf on Wednesday, along with Republican Senator Kelly Ayotte of New Hampshire and Democratic Senator Richard Blumenthal of Connecticut.The holdouts said they believed that Califf would not push the FDA to do its part to resolve what they called an opioid epidemic, in which patients become hooked on prescription pain-killers, then move on to heroin. Related: Califf wins Senate panel vote, but faces trouble on food labeling Related:center_img As the first permanent chief the FDA has had in nearly a year, Califf will face pressure from lawmakers and patient advocacy groups to speed the pace of medical innovation, even as the agency is under persistent pressure from critics who say that faster drug and device approvals will hurt the public.Califf will also have to manage the agency’s role in two major White House initiatives: the promotion of precision medicine and Vice President Joe Biden’s cancer “moonshot.”advertisement Califf has also promised to increase patient involvement in the drug approvals and communicate better with drug companies during the process. He has also vowed to work on attracting and retaining the best scientists.One of the biggest FDA problems Califf will inherit is the backlog of generic drugs awaiting approval.Far cheaper than brand-name drugs, generic medications are more in demand than ever. They make up 88 percent of all prescriptions in the United States but only 28 percent of the cost, according to the Generic Pharmaceutical Association. But the backlog of 4,300 drugs awaiting approval at the end of 2015 has drawn much criticism, especially from businesses who first filed their applications back in 2009.Califf will also have to get up to speed on food safety issues. Steven Grossman, deputy director of the Alliance for a Stronger FDA, a group devoted to increasing the agency’s funding, said that although Califf has been at the FDA since last year, his focus has been on medical products and tobacco.The FDA is still in in the midst of implementation of the Food Safety Modernization Act, passed in 2010, and Califf needs to be in the loop on the issue, Grossman said.“He will have to catch up quickly,” Grossman said. “This is going to be new territory for him.”Another fast-moving issue is the clash between the FDA and drug companies over off-label uses. Until recently, drug and device makers needed to prove that their products were safe and effective for treating an illness before they could be promoted for that purpose. But a court decision last summer started eroding that ban. Now, the FDA must negotiate a new standard.If confirmed, Califf said in November, he would work on revising the documents “in an effort to harmonize the goal of protecting the public health with first-amendment issues.”Califf will also have to continue pushing the White House Office of Management and Budget to approve the FDA’s proposed crackdown on e-cigarettes. The so-called “deeming rule” would permit the agency to regulate e-cigarettes and cigars. OMB has had the proposal since October and is still debating the issue with lawmakers and industry.Ellen Sigal, chairman of Friends of Cancer Research, a think tank, said she believes Califf’s past work for the pharmaceutical industry is a plus.“It’s an enormous asset that you actually understand how to do clinical trials, how to work with all sectors,” said Sigal, who got to know Califf while he was at Duke. “I think he’s thought a lot about what his immediate steps should be. It’s been difficult going through the confirmation process. I’m just sad it’s taken so long.” Related: WASHINGTON — The confirmation fight may have been tough, but the job could be even tougher.Now that the Senate has officially approved Dr. Robert Califf as the new commissioner of the Food and Drug Administration, he’ll inherit an agency that is being pushed to approve new medical treatments more quickly without sacrificing safety — and facing pressure to act on a host of public health issues, including drug prices and the Zika virus, over which his agency has little control.The Senate confirmed Califf Wednesday on a lopsided vote of 89 to 4, bringing a swift conclusion to a drawn-out battle with a handful of senators who charged that he was too close to the pharmaceutical industry and wouldn’t do enough to end opioid abuse.advertisement FDA official took name off papers Related: 2718760-Califf-Q-amp-as-Alexander (PDF)
2718760-Califf-Q-amp-as-Alexander (Text) Read Califf’s written answers to Alexander’s questions here Senate vote removes major hurdle in Robert Califf’s bid to lead FDA last_img read more

Post-Brexit, will the European Medicines Agency be homeless?

first_imgThe EMA has enjoyed a symbiotic relationship with Britain’s own Medicines & Healthcare products Regulatory Agency, but in the wake of Brexit, the two organizations need to learn how to play separately.A lot of regulatory work is still done on a national level, by agencies such as the MHRA, so drugs are able to get national approval before they’re sanctioned by the EMA. Bates estimated that the UK drug agency actually does about a third of the work underlying reviews by the EMA. The MHRA will have to fortify its internal drug review process, to make up for the absence of the EMA’s function. And, in turn, Bates said the European agency may lose out on benefitting from the MHRA’s strengths in patient safety regulation.“It would be really unfortunate if those skills would be unavailable to the central EMA agency,” Bates said.The UK life sciences industry will have some time to adjust, however, according to Jeffries analyst Brian Abraham: “For the EMA regulatory process,” he wrote, “… all will be the same for two years as the shift will be gradual.” Britain’s popular vote to leave the European Union seems likely to cause major disruptions for the drug approval process in the UK and across the channel in mainland Europe, analysts said Friday. There were also predictions that medical research funding will take a hit.“The future structure of medicine regulation in Europe is now thrown into question,” said Steve Bates, CEO of the BioIndustry Association, a British life sciences trade organization.The clearest impact of the “Brexit” vote on the life sciences sector is likely to fall on employees of the European Medicines Agency, which will likely have to relocate to another country, uprooting more than 600 people now working in London.advertisement Leave this field empty if you’re human: Brexit has been a major concern for the pharmaceutical industry for many months. Major UK pharma players such as GlaxoSmithKline and AstraZeneca have long argued that leaving the EU would stymie drug innovation.The sector employs more than 222,000 people across the UK — a significant percentage from other EU countries — and the industry fears the migration of talent after separation from the EU. Furthermore, about 16 percent of the $4 billion UK life sciences firms spend on research annually comes from EU grants, so there’s worry that this money will be lost.Global pharmaceutical companies, especially ones with headquarters or a presence in the UK, had voiced support for the “Remain” campaign leading up to the vote. A handful of pharma giants including Glaxo and AstraZeneca in recent months signed letters published in the British newspapers The Times and The Observer warning of consequences to their industry if the referendum were to pass.The reaction from drug companies on Friday was resigned yet measured. Corporate statements referenced plans to watch and adapt to the new global order. AstraZeneca and GlaxoSmithKline both promised to “engage” in the process and work with stakeholders moving forward. Eli Lilly urged “the UK government to promote political stability.” And Johnson & Johnson said it aimed “to minimize any disruption.”British venture capitalist Neil Woodford, who’s had a heavy hand in biotech investment, offered calming words on his firm’s website. Although there will be challenges in the near-term, he said that in ensuing years “the trajectory of the UK economy, and more importantly the world economy, will not be influenced significantly by today’s outcome.”Bates mirrored that sentiment, with an aphorism that’s decidedly British:“We’ve just got to keep calm and carry on biotech-ing,” he said. Related: Meghana Keshavan A European Union flag, with a hole cut in the middle, flies at half-mast Friday outside a home in Knutsford Cheshire in the UK. Christopher Furlong/Getty Images BiotechPost-Brexit, will the European Medicines Agency be homeless? Alan Carr, an analyst with Needham, wrote in a client note that drugs currently being reviewed by the EMA won’t feel much impact in the near-term. However, moving forward, he said “Brexit will lead to a less efficient, and potentially lengthier regulatory process for companies seeking approval in the EU and UK.”advertisement Biotech Correspondent Meghana covers biotech and contributes to The Readout newsletter. Tags Brexitpharmaceutical industryUK Please enter a valid email address. Newsletters Sign up for Pharmalot Your daily update on the drug industry. “No country has ever decided to leave the EU, so there is no precedent for this situation,” a spokeswoman for the EMA wrote in an email, adding that it’s “too early to foresee the implications of this decision” and that the EMA will share more when it has “concrete information.” Privacy Policy By Meghana Keshavan and Rebecca Robbins June 24, 2016 Reprints About the Authors Reprints @megkesh Europe’s new trade secrets rule sparks debate over drug safety [email protected] last_img read more

Most Americans favor late-term abortion if Zika harms fetus, STAT-Harvard poll finds

first_img By Helen Branswell Aug. 5, 2016 Reprints Tags abortionpolicySTAT-Harvard pollZika Virus Most Americans favor late-term abortion if Zika harms fetus, STAT-Harvard poll finds Miami residents pick up bug spray in the Wynwood neighborhood, where mosquitoes have spread Zika virus. Joe Raedle/Getty Images Senior Writer, Infectious Disease Helen covers issues broadly related to infectious diseases, including outbreaks, preparedness, research, and vaccine development. Unlock this article by subscribing to STAT+ and enjoy your first 30 days free! GET STARTED GET STARTED What is it? Americans’ strong aversion to late-term abortions drops precipitously if a developing fetus would likely be born with severe damage from the Zika virus, a new STAT-Harvard poll found.It showed that 59 percent of respondents thought women should have the right to end a pregnancy after 24 weeks of gestation if testing showed there was a serious possibility the fetus had microcephaly caused by the mother’s Zika infection. @HelenBranswell STAT+ is STAT’s premium subscription service for in-depth biotech, pharma, policy, and life science coverage and analysis. Our award-winning team covers news on Wall Street, policy developments in Washington, early science breakthroughs and clinical trial results, and health care disruption in Silicon Valley and beyond. Health Daily reporting and analysis The most comprehensive industry coverage from a powerhouse team of reporters Subscriber-only newsletters Daily newsletters to brief you on the most important industry news of the day STAT+ Conversations Weekly opportunities to engage with our reporters and leading industry experts in live video conversations Exclusive industry events Premium access to subscriber-only networking events around the country The best reporters in the industry The most trusted and well-connected newsroom in the health care industry And much more Exclusive interviews with industry leaders, profiles, and premium tools, like our CRISPR Trackr. What’s included? Helen Branswell About the Author Reprints Log In | Learn More last_img read more

Global spending on drugs to reach $1.5 trillion by 2021

first_img Daily reporting and analysis The most comprehensive industry coverage from a powerhouse team of reporters Subscriber-only newsletters Daily newsletters to brief you on the most important industry news of the day STAT+ Conversations Weekly opportunities to engage with our reporters and leading industry experts in live video conversations Exclusive industry events Premium access to subscriber-only networking events around the country The best reporters in the industry The most trusted and well-connected newsroom in the health care industry And much more Exclusive interviews with industry leaders, profiles, and premium tools, like our CRISPR Trackr. @Pharmalot Ed Silverman What is it? Global spending on pharmaceuticals is forecast to reach $1.5 trillion by 2021, a whopping 32 percent increase from expected spending this year. Even so, the year-on-year rate of increase is expected to be less than it has been in the recent past, when new, high-priced medicines for treating hepatitis C and some cancers prompted a huge uptick in demand.Indeed, overall spending will rise nearly 1.5 times faster between 2017 and 2021 than between 2012 and 2016, growing by $367 billion compared with $148 billion. But spending is forecast to drop 9 percent in 2016 from the past two years, which represented nearly unprecedented spending growth, and reach anywhere from 4 percent to 7 percent, on a compounded annual basis, between now and 2021. GET STARTED Log In | Learn More Pharmalot Columnist, Senior Writer Ed covers the pharmaceutical industry. Unlock this article — plus daily coverage and analysis of the pharma industry — by subscribing to STAT+. First 30 days free. GET STARTED APStockcenter_img What’s included? STAT+ is STAT’s premium subscription service for in-depth biotech, pharma, policy, and life science coverage and analysis. Our award-winning team covers news on Wall Street, policy developments in Washington, early science breakthroughs and clinical trial results, and health care disruption in Silicon Valley and beyond. Global spending on drugs to reach $1.5 trillion by 2021 By Ed Silverman Dec. 6, 2016 Reprints About the Author Reprints Pharmalot Tags drug pricingfinancepharmaceuticalsSTAT+ [email protected] last_img read more

Say what? FDA warns a drug maker over a plant the UK regulator just blessed

first_imgPharmalot Say what? FDA warns a drug maker over a plant the UK regulator just blessed Ed Silverman File this under “Let’s agree to disagree.”Last June, the US Food and Drug Administration inspected a plant in India run by USV, which makes medicines and pharmaceutical ingredients, and found several manufacturing violations. These were detailed in a March 10 warning letter the agency sent to the company. Unlock this article — plus daily coverage and analysis of the pharma industry — by subscribing to STAT+. First 30 days free. GET STARTED What’s included? Tags FDApharmaceuticalsSTAT+ STAT+ is STAT’s premium subscription service for in-depth biotech, pharma, policy, and life science coverage and analysis. Our award-winning team covers news on Wall Street, policy developments in Washington, early science breakthroughs and clinical trial results, and health care disruption in Silicon Valley and beyond. GET STARTED Pharmalot Columnist, Senior Writer Ed covers the pharmaceutical industry.center_img Log In | Learn More [email protected] @Pharmalot By Ed Silverman March 24, 2017 Reprints A chemist works in a factory on the outskirts of Mumbai, India. Rafiq Maqbool/AP What is it? About the Author Reprints Daily reporting and analysis The most comprehensive industry coverage from a powerhouse team of reporters Subscriber-only newsletters Daily newsletters to brief you on the most important industry news of the day STAT+ Conversations Weekly opportunities to engage with our reporters and leading industry experts in live video conversations Exclusive industry events Premium access to subscriber-only networking events around the country The best reporters in the industry The most trusted and well-connected newsroom in the health care industry And much more Exclusive interviews with industry leaders, profiles, and premium tools, like our CRISPR Trackr.last_img read more

Mallinckrodt pays $35 million fine for failing to report suspicious oxycodone orders

first_img [email protected] Ed Silverman About the Author Reprints Tags addictionpharmaceuticalsSTAT+ Mallinckrodt has agreed to pay $35 million to settle charges of failing to report suspicious orders of controlled substances, the largest such deal involving a drug maker for such an infraction.The deal also includes what authorities are calling a “groundbreaking parallel agreement” with the Drug Enforcement Agency, which will involve collecting and analyzing data from customers in order to identify suspicious sales. Mallinckrodt pays $35 million fine for failing to report suspicious oxycodone orders What’s included? What is it? Pharmalot Columnist, Senior Writer Ed covers the pharmaceutical industry. Unlock this article — plus daily coverage and analysis of the pharma industry — by subscribing to STAT+. First 30 days free. GET STARTEDcenter_img Daily reporting and analysis The most comprehensive industry coverage from a powerhouse team of reporters Subscriber-only newsletters Daily newsletters to brief you on the most important industry news of the day STAT+ Conversations Weekly opportunities to engage with our reporters and leading industry experts in live video conversations Exclusive industry events Premium access to subscriber-only networking events around the country The best reporters in the industry The most trusted and well-connected newsroom in the health care industry And much more Exclusive interviews with industry leaders, profiles, and premium tools, like our CRISPR Trackr. GET STARTED Log In | Learn More By Ed Silverman July 11, 2017 Reprints STAT+ is STAT’s premium subscription service for in-depth biotech, pharma, policy, and life science coverage and analysis. Our award-winning team covers news on Wall Street, policy developments in Washington, early science breakthroughs and clinical trial results, and health care disruption in Silicon Valley and beyond. Pharmalot APStock @Pharmalot last_img read more

Families bear the burden of this disease in silence. Pope Francis made us into a community

first_imgHealthFamilies bear the burden of this disease in silence. Pope Francis made us into a community Two families, one each from San Luis and Barranquitas, were invited to the papal audience. In a video produced by the event’s planners, Maria Esther Soto-Soto, a 44-year-old mother of four, whose symptoms of HD are strikingly apparent, says: “I have to ask for charity all the time to feed my children.”Before they left home, she and her two siblings here had never been on a plane and didn’t know where Italy was. Their doctor, a gentle man named Ernesto Solis, took them shopping to a big, air-conditioned mall and bought them shoes, underwear, and other necessities.In the video, someone asks Maria Esther: What is she going to say to Francis? “I’m going to tell the pope to help all of us,” she says.Maria Esther Soto-Soto, Venezuelan patient representative Zulay Pinol Romero, Yosbely Soto-Soto, and Dr. Ernesto Solis in the papal hall. Pier Paolo Lisarelli“These communities in Latin America really exemplify how disease and poverty combine at a terrible combination. Not just for the patient but for the children,” Ignacio Muñoz-Sanjuan, a Spanish neuroscientist who helped organize the papal event, told me one morning in Rome. He also made the daunting 6,000-mile journey with the Latin American families. “A lot of kids become caretakers when they’re really young. And they never have any possibility in life at getting ahead.”And with drugs to stem the disease nowhere on the horizon, the 45-year-old scientist is desperately trying to address the social problems Huntington’s patients face, founding a humanitarian project called Factor-H devoted to that very task. “A lot of patients end up on the streets because the families can’t cope with it anymore and because there’s no social structure for them,” he said. “I think there’s something wrong that society doesn’t have special protections for people with a genetic disorder like this. There should be special rights because they have special needs.” By Mona Gable Aug. 8, 2017 Reprints VATICAN CITY — We are waiting for the pope. He is supposed to come at 11. But then we are told he will arrive at 11:30. The crowd sighs in expectation. People turn to each other and smile, hold hands, murmur in various languages. A few rows ahead of me, a mother juggles a toddler on her lap. A folk-rock band called Miner plays sweetly on stage, their voices a hymn in the cavernous concrete hall.As I gaze up at the stained glass windows, I feel like I am in church, about to be blessed. Which, in a sense, I am. Two hours ago, I walked in the mid-May morning sun through St. Peter’s Square with a handful of patients from Latin America as bells rang out. Soon we will meet Pope Francis.I’m sitting in Aula Paolo VI audience hall in the Vatican. Around me are 1,700 people, 150 of them patients — the largest gathering ever of those affected by a fatal genetic brain disorder called Huntington’s disease. HD causes a staggering array of mental and physical difficulties. There are few treatments and no cure. As if that weren’t cruel enough, many people hide the disease, live in isolation. Afraid of discrimination, rejection, condemnation.advertisement Nearly six years ago, my brother died from a wrenching mix of colon cancer and HD. The shock of his diagnosis, his suffering and bravery, and his slow, brutal death nearly broke me. For a time, my family told almost no one the truth.The stigma of HD, and particularly the plight of impoverished HD communities in Latin America, is what has drawn us to the Vatican, for an event called HDdennomore, or Hidden No More. The organizers hope to shatter that stigma, but also enlist the influential Catholic Church to finally render aid to families. It’s the first time a pope or world leader will speak publicly about Huntington’s disease. Privacy Policy Now, Sabine wraps his arm around Brenda. Brenda likes a particular Latin American singer who plays the guitar, is that right? he asks. She nods. Isn’t his name Axel? he says. And then just like a teenage girl’s fantasy, the handsome pop star strolls out on stage and embraces Brenda, who looks incredulous. The audience gasps in delight. And then, as we all watch spellbound, the musician sings to her.I instinctively put my hand on my chest and sigh.Brenda, who has juvenile Huntington’s disease, smiles as she listens to Argentine singer Axel perform. Andrew Medichini/APThis unlikely event all began with a one-time foreign correspondent, two scientists named Elena and Nacho, and a California resort.In February 2016, the three found themselves hanging out around a table in the warm desert sun of Palm Springs, where they had gathered for a Huntington’s conference. Dr. Elena Cattaneo had flown over from her native Italy; Muñoz-Sanjuan — who goes by “Nacho”— had come from LA, where he acts as a vice president of the nonprofit CHDI Foundation, and Sabine were there, too. And though the setting was beautiful and serene, they were trying to solve a problem. The humanitarian project Nacho had launched a few years before was struggling. The NGOs he’d approached hadn’t come on board, and funding was thin.“I was really frustrated not being able to do anything in Venezuela,” he told me one morning in Rome. “The only institution that’s left to help with Venezuela is the church. That’s when I had the conversation with Charles and Elena.” And that’s when Sabine suggested matter-of-factly, “Let’s talk to the pope.”Cattaneo, by chance, knew how to make that happen. She called her friend Pierre, who had close contacts at the Vatican, right then and there. “I’m here with Nacho and Charles Sabine,” she told him. “We have this dream. We are asking for a dedicated event on Huntington’s disease.” And Pierre, she said, responded, “We should do it!”On Pierre’s advice, Cattaneo wrote a letter to Pope Francis, requesting the audience. A few months later, she received a letter in return that the Vatican was considering the appeal. “From then on, it was an earthquake,” she said. About the Author Reprints Ignacio Muñoz-Sanjuan, neuroscientist “I never knew there were so many families all over the world. I thought there was just my family.” As I sit in the hall, moments of drama gracefully unfold. “Brenda, can you come up on stage?” asks Sabine. Smiling, the 15-year-old-girl climbs the steps, her walk shaky. Brenda has come from Buenos Aires, Argentina — the pope’s hometown — with two of her doctors and an aunt who is raising her. They are essentially her only family. She used to share a bedroom with her father until he died of Huntington’s on her 15th birthday. Before that she took care of him. When Brenda started to get sick, her mother fled, taking her only sibling.Brenda can’t talk very well, but, like most teens, she is incredibly adept at texting. One of her doctors, Claudia Perandones, helped plan the papal event. When she gave Brenda the elegant red envelope containing the invitation to meet Francis, the teenager furiously texted in reply: “I love you.” Please enter a valid email address. Mona Gable is a writer in Los Angeles. She is working on a book for Simon & Schuster about the murder of Savanna Greywind and the crisis of missing and murdered Native American women. Despite everything, they have traveled from 26 countries — from as far away as Argentina and New Zealand — with an entourage of researchers, doctors, caregivers, and relatives attending them on the long journey to Rome. For some, it is their first trip beyond their hometown.I am not Catholic, although I am Episcopalian, which is similar, I like to say, only with birth control, gay parishioners, and female priests.I’m also not one to toss around religious clichés. But I feel like I’m witnessing a miracle.The Latin American patients, families, and doctors listen to the Pope’s speech. Pier Paolo LisarelliBefore the pope arrives, Charles Sabine works the crowd. One of the event’s organizers, he is 57 and British with waves of blond hair. Sabine’s father, an uncle, and a half brother all died of HD. He carries the gene, too — meaning he will eventually show symptoms of the disease. Before he started advocating for HD, for years he traveled the world as a journalist for NBC.On stage, Sabine asks the audience, who are seated by nationality, to stand up. “Ireland!” he bellows. “Spain!” he shouts. “Vietnam!” As each group rises, the crowd applauds and cheers. It is a profound moment, symbolizing the power of acceptance by hundreds who know their pain. At last they are not alone.Later that day, a 79-year-old woman from Colombia, who has nurtured and buried four adult children with HD, tells the scientist who brought her here: “I never knew there were so many families all over the world. I thought there was just my family.” Mona Gable Back in Italy, the prominent stem cell scientist and senator served as the liaison with the Holy See. “When I talked to priests, I had the perception that they were interested in the disease,” she recalled. “They thought of it as a very important event, and that the goal was something the Vatican would share and completely support.”Still, the Vatican functions by any number of mysterious and inflexible rules — and Cattaneo had to figure them out. “Each domain has its own activity, but nothing is written down, so you have to learn who to talk to for this and that.”Ultimately, she received a letter: The event was on. Cattaneo and her friends were astounded. The news was especially remarkable because Francis had never done an equivalent event for any other disease.The audience with Pope Francis was the largest gathering of patients with Huntington’s disease in history. L’Osservatore Romano/Pool via APWhen Pope Francis eventually appears, he ambles across the stage, gives a little wave. There is polite applause, a feeling of awe. It’s almost as if we can’t believe he’s really here. Seated about a dozen rows back, I lean forward to see his kind, wrinkled face. A huge silver cross dangles down the front of his white robe. His ears are very large.He sinks into a big white chair, two cardinals in black beside him, men in suits with earpieces behind him. Sabine and Cattaneo say a few words, thank the pope for his compassion and wisdom, for “shining a light on our disease at last.” After Brenda and Axel hand him a scroll illuminating the event’s goals, the 8o-year-old pontiff kisses her on the cheek and she throws her arms around him.What a beautiful moment for Brenda, I think, whose young life has been so insufferably hard. Being embraced by perhaps the most revered man on earth.When the pope begins to read his speech, it’s like hearing a prayer. The hall falls silent. People hope that Francis will speak to the extraordinary difficulties they face because of HD. He does that and more.“In many cases, the sick and their families have experienced the tragedy of shame, isolation and abandonment,” he says softly in Italian, as many listen on headsets in English and Spanish. “Today, however, we are here because we want to say to ourselves and all the world: hidden no more!”After the speech and the applause, the pope makes his way down the marble steps, his retinue of handlers following.He is coming down into the crowd. Everyone seems to hold their breath.At first people are tentative. They smile, shake his hand, but seem overwhelmed. Then the pope reaches Maria Esther, and the tiny Venezuelan woman collapses in his arms, crying. Then her 35-year-old brother, Franklin, embraces the pope. And then their 32-year-old sister, Yosbely, completely falls apart. “Please help us, my house is falling down,” she sobs as Francis holds her and Maria Esther.As a mother who faced the possibility of having Huntington’s, I feel my heart break a little. After my brother died, I got tested because I was frightened my kids were at risk. I was negative. All three of the Venezeulan siblings have children and are in the throes of the disease. A 79-year-old woman from Colombia whose four children died from Huntington’s The morning I said good-bye to the HD families, at the glorious Trevi Fountain, at some point it began to rain.Franklin, his caregiver Samuel, Yosbely, Maria Esther, and I huddled in the doorway of one of the overpriced souvenir shops on the square. Yosbely and I linked arms and chatted. Soon vendors appeared hawking brightly colored rain ponchos and umbrellas. Cattaneo appeared with some small white bags and handed out Italian pastries to everyone.Franklin, who always seemed to quietly take everything in, noted approvingly that I had worn a rain jacket. It was only luck, I laughed. I was going to miss Franklin.Finally, their bus arrived, and everyone began to disperse. I hugged Yosbely, Maria Esther, Franklin, and a few others goodbye and then quickly walked away, reflecting on the moving scenes of the last week. Some stories stay with you, make you feel that life is full of goodness and awe. This would be one of them.As I walked through a cobblestone alley near the Pantheon, the sky over Rome burst into a raging thunderstorm.“I don’t think we’ll ever see something like that in our lifetime,” Nacho had said to me of the papal event.center_img For the next hour, Francis threads his way through the rows. He looks in people’s eyes. Listens to their stories. Laughs and pats babies’ cheeks. Leans down and blesses patients writhing in wheelchairs. You have never seen so many joyful sick people, families, caregivers, and scientists in one room. In turn, people deluge the pope with kisses and hugs, photos of loved ones, books and gifts. I laugh when a young female researcher from London asks him for a selfie, which he happily obliges.Suddenly, Pope Francis stands in front of me. He looks tired, though his soft brown eyes shine with light.I’ve been so absorbed watching everyone else that I’m dumbstruck. So I do what seems perfectly natural.I kiss the pope on the cheek.Before I left for Rome, I was afraid I’d get depressed during the event because I knew people there would eventually die, or because I’d be reminded of my brother. But it feels more like a celebration of life, of promise and hope.After the pope waves goodbye, everyone lingers to savor the day. Sabine dances with his young daughter on stage, while Brenda sits nestled against Axel. People who were once strangers talk and hug each other. Researchers who’ve never worked together exchange business cards, email addresses, and offers of help.I don’t normally do this kind of thing, but in the passion of the moment I ask a young Venezuelan actor to take a photo with me.As I gaze around the room, I think of how many people felt so alone before today, and how that has utterly changed. They’re a global community now.The visiting patients and their families have dinner at the Passionisti Convent in Rome. Pier Paolo LisarelliThat night, I took a cab from my hotel near the Vatican to join everyone for a celebratory dinner. As the sun set over chaotic Rome, we settled into a neighborhood pizzeria where everyone sat around wooden tables, talking, laughing and taking photos. The group was positively rowdy. “Vino! Vino!” someone yelled when the waiter came. I was sitting with Solis, the Venezuelan doctor, and his wife, Reina, Cattaneo, and Franklin, Maria Esther’s brother.“He wants Coca-Cola!” Cattaneo shouted to the waiter, pointing to Franklin.Franklin resembled his sisters, with his heart-shaped face and intelligent brown eyes. Before he got sick, he made his living as a fisherman. He had never learned to read and write. When I asked him about meeting the pope, his face opened into a big smile and he replied in Spanish: “It was beautiful.”A tall man with gray hair stood near us loudly joking with him. I wondered who he was.“That’s Pierre!” said Cattaneo — her friend with Vatican ties had joined the whole group for dinner. “He looks normal. He’s crazy,” she warned us, and we all laughed.As we dined on pizza, Solis, a soft-spoken, middle-aged man with thinning black hair, told me about the desperate situation in Venezuela. Because of the embargo, they had almost no food or medicine. When, three days before, one of the Venezuelan patients had a breakdown in the streets of Rome, his 13-year-old son cried for his father to be given fruit juice, which is what they treated him with at home.In Maracaibo, where Solis lived, people were starving. He and Reina, who is also a doctor, had lost a lot of weight. Even as they were in Rome, Venezuela was collapsing. Their two young daughters hadn’t gone to school for a few days because of the military crackdown in the streets. He loved his patients, but he didn’t know how much longer he could stay in the country.The Latin American families, doctors, and caregivers inside one of Rome’s oldest Catholic churches. Pier Paolo LisarelliThe morning after the papal audience, the families gathered again for a special Mass at one of the oldest churches in the city, the Basilica di Santa Maria in Trastevere. I sat next to Yosbely and Maria Esther. Yosbely, like her sister, was small and thin; her short brown hair was pushed back with a headband. She had a wide smile that revealed her missing front teeth. She was especially sweet and affectionate, always giving hugs. Before he abandoned her and their two kids, her husband used to beat her. Maria Esther’s husband had also vanished. “A lot of times the men leave when things get tough,” Nacho told me.Maria Esther’s balance was terrible, her head wobbled, and she had trouble focusing her eyes. She was also delightfully strong-willed. One pearly evening later that week, we toured the Sistine Chapel. We were about to descend a spiral staircase when I noticed her standing alone. She looked dismayed. The group was leaving and we needed to go, but the woman who often helped her navigate such tricky situations wasn’t around. So, I told her I was going to help her down the stairs, and gently took her arm. She grabbed the banister, her mouth set, and step by step down we went. Several times I was terrified we were going to tumble down the slippery marble steps. We didn’t.Maria Esther reminded me, in a good way, of my brother. My brother was a warm, outgoing guy — and also determined. When his involuntary body movements became severe, he refused to hide or let it stop him from doing the things he loved. He went to football games and restaurants, his daughter’s high-school graduation, flew to LA to stay with me while he attended a conference. The man would have still skied down black diamonds if he could have. At the end he still wanted to brush his teeth without help. Privacy Policy In the history of HD research, Latin America figures large. In the Venezuelan towns of San Luis and Barranquitas, Huntington’s is nearly 1,000 times more prevalent than anywhere else in the world. Because of poverty, lack of education, and government neglect, the disease — which is caused by a single mutant gene — flourished and spread from one generation to the next. When scientist Nancy Wexler and a team of international researchers identified the gene in 1993, the DNA of the Venezuelan families was instrumental in that discovery. Yet despite their gift to science, they never benefited. Even today, these communities live in staggering poverty, with almost no food, medicine, or means of work — or even access to the genetic test for HD. Related: Newsletters Sign up for Morning Rounds Your daily dose of news in health and medicine. A rare disease killed her mother. Can this scientist save herself? Related: Leave this field empty if you’re human: Because society has shunned people with HD, their presence in the majestic, high-ceilinged hall is strikingly powerful. Scores of patients line the front rows, their symptoms plainly visible. Some flap their arms, jerk their heads. The sickest rock in wheelchairs. No one is ashamed.advertisement @monalgable Pope Francis hugs a boy during an audience with Huntington’s disease families at the Vatican. Andrew Medichini/AP “I think there’s something wrong that society doesn’t have special protections for people with a genetic disorder like this. There should be special rights because they have special needs.” Please enter a valid email address. Tags geneticspatientsrare disease Newsletters Sign up for Daily Recap A roundup of STAT’s top stories of the day. Should you take a genetic test? Here’s what expert counselors advise Leave this field empty if you’re human: My thoughts returned to Mass, when we had reached the part of the service where parishioners and priests offer each other “the sign of peace” — a profound tradition where people turn to their neighbors, grasp their hands, and say, “The peace of the Lord be with you.” It’s to symbolize our role in humanity as peacemakers.As organ music softly played, everyone stood, extending their hands, their voices rising and echoing in the ancient stone church. For several minutes, patients hugged their caregivers, scientists embraced patients, and people left their seats to seek out loved ones. The emotion was overwhelming. Yosbely, Maria Esther, and the others from Venezuela, where peace was unimaginable, were crying.I had not cried at all during the papal event. But as I stood there hugging a patient advocate from Venezuela, tears began streaming down my cheeks.last_img read more

Three U.S. scientists win Nobel Prize for uncovering inner workings of the biological clock

first_img What is it? Three U.S. scientists win Nobel Prize for uncovering inner workings of the biological clock [email protected] Senior Writer, Science and Discovery (1956-2021) Sharon covered science and discovery. About the Author Reprints Sharon Begley By Sharon Begley Oct. 2, 2017 Reprints GET STARTED STAT+ is STAT’s premium subscription service for in-depth biotech, pharma, policy, and life science coverage and analysis. Our award-winning team covers news on Wall Street, policy developments in Washington, early science breakthroughs and clinical trial results, and health care disruption in Silicon Valley and beyond. What’s included?center_img Daily reporting and analysis The most comprehensive industry coverage from a powerhouse team of reporters Subscriber-only newsletters Daily newsletters to brief you on the most important industry news of the day STAT+ Conversations Weekly opportunities to engage with our reporters and leading industry experts in live video conversations Exclusive industry events Premium access to subscriber-only networking events around the country The best reporters in the industry The most trusted and well-connected newsroom in the health care industry And much more Exclusive interviews with industry leaders, profiles, and premium tools, like our CRISPR Trackr. Unlock this article by subscribing to STAT+ and enjoy your first 30 days free! GET STARTED The 2017 Nobel Prize in physiology or medicine was awarded on Monday morning to Jeffrey Hall, Michael Rosbash, and Michael Young for their discoveries of the molecular underpinnings of the circadian rhythms that help organisms adapt to our 24-hour days.The scientists “were able to peek inside our biological clock and elucidate its inner workings,” said Thomas Perlmann, secretary of the Nobel Committee for Physiology or Medicine, who announced the prize in Stockholm. “Their discoveries explain how plants, animals, and humans adapt their biological rhythm so that it is synchronized with the Earth’s revolutions.” Alex Hogan/STAT Tags research In the Lab @sxbegle Log In | Learn More last_img read more

Pharmalittle: Migraine medication sales look promising; will the U.S. import drugs?

first_img [email protected] What’s included? Pharmalittle: Migraine medication sales look promising; will the U.S. import drugs? General Assignment Reporter Liz focuses on cancer, biomedical engineering, and how patients feel the effects of Covid-19. STAT+ is STAT’s premium subscription service for in-depth biotech, pharma, policy, and life science coverage and analysis. Our award-winning team covers news on Wall Street, policy developments in Washington, early science breakthroughs and clinical trial results, and health care disruption in Silicon Valley and beyond. Pharmalot Log In | Learn More By Elizabeth Cooney Aug. 21, 2018 Reprints Daily reporting and analysis The most comprehensive industry coverage from a powerhouse team of reporters Subscriber-only newsletters Daily newsletters to brief you on the most important industry news of the day STAT+ Conversations Weekly opportunities to engage with our reporters and leading industry experts in live video conversations Exclusive industry events Premium access to subscriber-only networking events around the country The best reporters in the industry The most trusted and well-connected newsroom in the health care industry And much more Exclusive interviews with industry leaders, profiles, and premium tools, like our CRISPR Trackr. Unlock this article by subscribing to STAT+ and enjoy your first 30 days free! GET STARTEDcenter_img What is it? GET STARTED About the Author Reprints Elizabeth Cooney @cooney_liz Alex Hogan/STAT Good morning. It’s Elizabeth Cooney again, filling in for the vacationing Ed Silverman. Some food for thought to start the day. Comments, suggestions, tips welcome.A controversial Food and Drug Administration working group has begun discussing how to import drugs from other countries as a way to bring down prices for American patients, STAT says. “That work group has met and is outlining its plan of action,” Dan Best, Trump administration senior adviser on drug pricing, said on a phone call with reporters. “As more of that information becomes available, we’ll make it available to the market.” Tags drug developmentdrug pricingpharmaceuticalspharmalittleSTAT+last_img read more