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Tag: Medical schools

  • Sue Goldie Has Parkinson’s Disease

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    She is animated now, in full lecture mode. Patients, she says, should have access to therapists and trainers as soon as they’re diagnosed with Parkinson’s, not just after a fall or injury or when symptoms become debilitating. Insurance companies should pay for it, she says. Studies show that exercise is good for patients — for Parkinson’s symptoms, yes, and maybe for the progress of the disease itself, but also to help stave off problems and comorbidities that come when people stop moving much, like heart disease and diabetes.

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    John Branch and Sophie Park

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  • Adult ADHD Is the Wild West of Psychiatry

    Adult ADHD Is the Wild West of Psychiatry

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    In October, when the FDA first announced a shortage of Adderall in America, the agency expected it to resolve quickly. But five months in, the effects of the shortage are still making life tough for people with attention-deficit hyperactivity disorder who rely on the drug. Stories abound of frustrated people going to dozens of pharmacies in search of medication each month, only to come up short every time. Without treatment, students have had a hard time in school, and adults have struggled to keep up at work and maintain relationships. The Adderall shortage has ended, but the widely used generic versions of the drug, known as amphetamine mixed salts, are still scarce.

    A “perfect storm” of factors—manufacturing delays, labor shortages, tight regulations—is to blame for the shortage, David Goodman, an ADHD expert and a psychiatry professor at the Johns Hopkins University School of Medicine, told me. And they have all been compounded by the fact that the pandemic produced a surge in Americans who want Adderall. The most dramatic changes occurred among adults, according to a recent CDC report on stimulant prescriptions, with increases in some age groups of more than 10 percent in just a single year, from 2020 to 2021. It’s the nature of the spike in demand for Adderall—among adults—that has some ADHD experts worried about “whether the demand is legitimate,” Goodman said. It’s possible that at least some of these new Adderall patients, he said, are getting prescriptions they do not need.

    The problem is that America has no standard clinical guidelines for how doctors should diagnose and treat adults with ADHD—a gap the CDC has called a “public health concern.” When people come in wanting help for ADHD, providers have “a lot of choices about what to use and when to use it, and those parameters have implications for good care or bad care,” Craig Surman, a psychiatry professor and an ADHD expert at Harvard and the scientific coordinator of adult-ADHD research at Massachusetts General Hospital, told me. The stimulant shortage will end, but even then, adults with ADHD may not get the care they need.

    For more than 200 years, symptoms related to ADHD—such as difficulty focusing, inability to sit still, and fidgeting—have largely been associated with children and teenagers. Doctors widely assumed that kids would grow out of it eventually. Although symptoms become “evident at a very early period of life,” one Scottish physician wrote in 1798, “what is very fortunate [is that] it is generally diminished with age.” For some people, ADHD symptoms really do get better as they enter adulthood, but for most, symptoms continue. The focus on children persists today in part because of parental pressure. Pediatricians have had to build a child-focused ADHD model, Surman said, because parents come in and say, “What are we going to do with our kid?” As a result, treating children ages 4 to 18 for ADHD is relatively straightforward: Clear-cut clinical guidelines from the American Academy of Pediatrics specify the need for rigorous psychiatric testing that rules out other causes and includes reports about the patient from parents and teachers. Treatment usually involves behavior management and, if necessary, medication.

    But there is no equivalent playbook for adults with ADHD in the U.S.—unlike in other developed nations, including the U.K. and Canada. In fact, the disorder was only recently acknowledged within the field of adult psychiatry. One reason it went overlooked for so long is because ADHD can sometimes look different in kids compared with adults: Physical hyperactivity tends to decrease with age as opposed to, say, emotional or organizational problems. “The recognition that ADHD is a life-span disorder that persists into adulthood in most people has really only happened in the last 20 years,” Margaret Sibley, a psychiatry professor at the University of Washington School of Medicine, told me. And the field of adult psychiatry has been slow to catch up. Adult ADHD was directly addressed for the first time in DSM-5—the American Psychiatric Association’s diagnostic bible—in 2013, but the criteria described there still haven’t been translated into practical instructions for clinicians.

    Addressing adult ADHD isn’t as simple as adapting children’s standards for grown-ups. A key distinction is that the disorder impairs different aspects of an adult’s life: Whereas a pediatrician would investigate ADHD’s impact at school or at home, a provider evaluating an adult might delve into its effects at work or in romantic relationships. Sources of information differ too: Parents and teachers can shed light on a child’s situation, but “you wouldn’t call the parent of a 40-year-old to get their take on whether the person has ADHD,” Sibley said. Providers usually rely instead on self-reporting—which isn’t always accurate. Complicating matters, the symptoms of ADHD tend to be masked by other cognitive issues that arise in adulthood, such as those caused by depression, drug use, thyroid problems, or hormonal shifts, Sibley said: “It’s a tough disorder to diagnose, because there’s no objective test.” The best option is to perform a lengthy psychiatric evaluation, which usually involves reviewing symptoms, performing a medical exam, taking the patient’s history, and assessing the patient using rating scales or checklists, according to the APA.

    Without clinical guidelines or an organizational body to enforce them, there is no pressure to uphold that standard. Virtual forms of ADHD care that proliferated during the pandemic, for example, were rarely conducive to lengthy evaluations. A major telehealth platform that dispensed ADHD prescriptions, Cerebral, has been investigated for sacrificing medical rigor for speedy treatment and customer satisfaction, potentially letting people without ADHD get Adderall for recreational use. In one survey, 97 percent of Cerebral users said they’d received a prescription of some kind. Initial consultations with providers lasted just half an hour, reported The Wall Street Journal; former employees feared that the company’s rampant stimulant-prescribing was fueling an addiction crisis. “It’s impossible to do a comprehensive psychiatric evaluation in 30 minutes,” Goodman said. (Cerebral previously denied wrongdoing and no longer prescribes Adderall or other stimulants.)

    The bigger problem is that too few providers are equipped to do those evaluations in the first place. Because adult ADHD was only recently recognized, most psychiatrists working today received no formal training in treating the disorder. “There’s a shortage of expertise,” Surman said. “It’s a confusing space where, at this point, consumers often are educating providers.” The dearth of trained professionals means that many adults seeking help for ADHD are seen by providers, including primary-care doctors, social workers, and nurse practitioners, who lack the experience to offer it. “It’s a systemic issue,” Sibley said, “not that they’re being negligent.”

    The lack of trained providers opens up the potential for inadequate or even dangerous care. Adderall is just one of many stimulants used to treat ADHD, and choosing the right one for a patient can be challenging—and not all people with ADHD need or want to take them. But even the most well-intentioned health-care professionals may be unprepared to evaluate patients properly. The federal government considers Adderall a highly addictive Schedule II drug, like oxycodone and fentanyl, and the risks of prescribing it unnecessarily are high: Apart from dependency, it can also cause issues such as heart problems, mood changes, anxiety, and depression. Some people with ADHD might be better off with behavioral therapy or drugs that aren’t stimulants. Unfortunately, it can be all too easy for inexperienced providers to start a patient on these drugs and continue treatment. “If I give stimulants to the average person, they’ll say their mood, their thinking, and their energy are better,” Goodman said. “It’s very important not to make a diagnosis based on the response to stimulant medication.” But the uptick in adults receiving prescriptions for those drugs since at least 2016 is a sign that this might be happening.

    The fact that adult ADHD is surging may soon lead to change. Last year, the American Professional Society of ADHD and Related Disorders began drafting the long-needed guidelines. The organization’s goal is to standardize care and treatment for adult ADHD across the country, said Goodman, who is APSARD’s treasurer. Establishing standards could have “broad, sweeping implications” beyond patient care, he added: Their existence could compel more medical schools to teach about adult ADHD, persuade insurance companies to cover treatment, and pressure lawmakers to include it in workplace policies.

    A way out of this mess, however long overdue, is only going to become even more necessary. Nearly 5 percent of adults are thought to have the disorder, but less than 20 percent of them have been diagnosed or have received treatment (compared with about 77 percent of children). “You have a much larger market of recognized and untreated adults, and that will continue to increase,” Goodman said. Women—who, like girls, are historically underdiagnosed—will likely make up a substantial share. Adults with ADHD may have suffered in silence in the past, but a growing awareness of the disorder, made possible by ongoing destigmatization, will continue to boost the ranks of people who want help. On social media, ADHD influencers abound, as do dedicated podcasts on Spotify.

    Until guidelines are published—and embedded into medical practice—the adult-ADHD landscape will remain chaotic. Some people will continue to get Adderall prescriptions they don’t need, and others may be unable to get an Adderall prescription they do need. Rules alone couldn’t have prevented the shortage, and they won’t stop it now. But in more ways than one, their absence means that many people who need help for ADHD are unable to receive it.

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    Yasmin Tayag

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  • Doctors Are Failing Patients With Disabilities

    Doctors Are Failing Patients With Disabilities

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    This piece was originally published by Undark Magazine.

    Ben Salentine, the associate director of health-sciences managed care at the University of Illinois Hospital and Health Sciences System, hasn’t been weighed in more than a decade. His doctors “just kind of guess” his weight, he says, because they don’t have a wheelchair-accessible scale.

    He’s far from alone. Many people with disabilities describe challenges in finding physicians prepared to care for them. “You would assume that medical spaces would be the most accessible places there are, and they’re not,” says Angel Miles, a rehabilitation-program specialist at the Administration for Community Living, part of the Department of Health and Human Services.

    Not only do many clinics lack the necessary equipment—such as scales that can accommodate people who use wheelchairs—but at least some physicians actively avoid patients with disabilities, using excuses like “I’m not taking new patients” or “You need a specialist,” according to a paper in the October 2022 issue of Health Affairs.

    The work, which analyzed focus-group discussions with 22 physicians, adds context to a larger study published in February 2021 (also in Health Affairs) that showed that only 56 percent of doctors “strongly” welcome patients with disabilities into their practice. Less than half were “very confident” that they could provide the same quality of care to people with disabilities as they could to other patients. The studies add to a larger body of research suggesting that patients with conditions that doctors may deem difficult to treat often struggle to find quality care. The Americans With Disabilities Act of 1990 (ADA) theoretically protects the one in four adults in the U.S. with a disability from discrimination in public and private medical practices—but enforcing it is a challenge.

    Laura VanPuymbrouck, an assistant professor in the Department of Occupational Therapy at Rush University, calls the 2021 survey “groundbreaking—it was the crack that broke the dam a little bit.” Now researchers are hoping that medical schools, payers, and the Joint Commission (a group that accredits hospitals) will push health-care providers for more equitable care.


    Due in part to scant data, information about health care for people with disabilities is limited, according to Tara Lagu, a co-author of both the 2021 and 2022 papers and the director of the Institute for Public Health and Medicine’s Center for Health Services & Outcomes Research at Northwestern University Feinberg School of Medicine. The few studies that have been done suggest that people with disabilities get preventive care less frequently and have worse outcomes than their nondisabled counterparts.

    About a decade ago, Lagu was discharging a patient who was partially paralyzed and used a wheelchair. The patient’s discharge notes repeatedly recommended an appointment with a specialist, but it hadn’t happened. Lagu asked why. Eventually, the patient’s adult daughter told Lagu that she hadn’t been able to find a specialist who would see a patient in a wheelchair. Incredulous, Lagu started making calls. “I could not find that kind of doctor within 100 miles of her house who would see her,” she says, “unless she came in an ambulance and was transferred to an exam table by EMS—which would have cost her family more than $1,000 out of pocket.”

    In recent years, studies have shown that even when patients with disabilities can see physicians, their doctors’ biases toward conditions such as obesity, intellectual disabilities, and substance-use disorders can have profound impacts on the care they receive. Physicians may assume that an individual’s symptoms are caused by obesity and tell them to lose weight before considering tests.

    For one patient, this meant a seriously delayed diagnosis of lung cancer. Patients with mobility or intellectual challenges are often assumed to be celibate, so their providers skip any discussion of sexual health. Those in wheelchairs may not get weighed even if they’re pregnant—a time when tracking one’s weight is especially important, because gaining too little or too much is associated with the baby being at risk for developmental delays or the mother being at risk for complications during delivery.

    These issues are well known to Lisa Iezzoni, a health-policy researcher at Massachusetts General Hospital and a professor of medicine at Harvard Medical School. Over the past 25 years, Iezzoni has interviewed about 300 people with disabilities for her research into their health-care experiences and outcomes, and she realized that “every single person with a disability tells me their doctors don’t respect them, has erroneous assumptions about them, or is clueless about how to provide care.” In 2016, she decided it was time to talk to doctors. Once the National Institutes of Health funded the work, she and Lagu recruited the 714 physicians that took the survey for the study published in 2021 in Health Affairs.

    Not only did many doctors report feeling incapable of properly caring for people with disabilities, but a large majority held the false belief that those patients have a worse quality of life, which could prompt them to offer fewer treatment options.

    During the 2021 study, Iezzoni’s team recorded three focus-group discussions with 22 anonymous physicians. Although the open-ended discussions weren’t included in the initial publication, Lagu says she was “completely shocked” by some of the comments. Some doctors in the focus groups welcomed the idea of additional education to help them better care for patients with disabilities, but others said that they were overburdened and that the 15 minutes typically allotted for office visits aren’t enough to provide these patients with proper care. Still others “started to describe that they felt these patients were a burden and that they would discharge patients with disability from their practice,” Lagu says. “We had to write it up.”

    The American Medical Association, the largest professional organization representing doctors, declined an interview request and would not comment on the most recent Health Affairs study. When asked about the organization’s policies on caring for patients with disabilities, a representative pointed to the AMA’s strategic plan, which includes a commitment to equity.


    Patients with disabilities are supposed to be protected by law. Nearly 50 years ago, Congress passed Section 504 of the Rehabilitation Act of 1973, which prohibited any programs that receive federal funding, such as Medicare and Medicaid, from excluding or discriminating against individuals with disabilities. In 1990, the ADA mandated that public and private institutions also provide these protections.

    The ADA offers some guidelines for accessible buildings, including requiring ramps, but it does not specify details about medical equipment, such as adjustable exam tables and wheelchair-accessible scales. Although these items are necessary to provide adequate care for many people with disabilities, many facilities lack them: In a recent California survey, for instance, only 19.1 percent of doctor’s offices had adjustable exam tables, and only 10.9 percent had wheelchair-accessible scales.

    Miles says she’s noticed an improvement in care since the ADA went into effect, but she still frequently experiences challenges in health care as a Black woman who uses a wheelchair. “We need to keep in mind the ADA is not a building code. It’s a civil-rights law,” says Heidi Johnson-Wright, an ADA coordinator for Miami-Dade County in Florida, who was not speaking on behalf of the county. “If I don’t have access to a wellness check at a doctor’s office or treatment at a hospital, then you’re basically denying me my civil rights.”

    The ADA isn’t easy to enforce. There are no “ADA police,” Johnson-Wright says, to check if doctor’s offices and hospitals are accessible. In many cases, a private citizen or the Department of Justice has to sue a business or an institution believed to be in violation of the ADA. Lawyers have filed more than 10,000 ADA Title III lawsuits each year since 2018. Some people, sympathizing with businesses and doctors, accuse the plaintiffs of profiteering.

    And it’s not just about accessible equipment. In 2018, the Justice Department sued a skilled nursing facility for violating the ADA, after the facility refused to treat a patient with a substance-use disorder who needed medication to help maintain sobriety. Since then, the department settled with eight other skilled nursing facilities for similar discrimination. “It is a violation of the ADA” to deny someone care based on the medications they need, Sarah Wakeman, an addiction-medicine specialist at Massachusetts General Hospital, wrote in an email, “and yet continues to happen.”

    Indeed, in the focus groups led by Lagu and Iezzoni, some of the doctors revealed that they view the ADA and the people it protects with contempt. One called people with disabilities “an entitled population.” Another said that the ADA works “against physicians.”

    The Department of Health and Human Services is aware of the issue. In a response to emailed questions, an HHS spokesperson wrote, “While we recognize the progress of the ADA, important work remains to uphold the rights of people with disabilities.” The Office of Civil Rights, the spokesperson continued, “has taken a number of important actions to ensure that health care providers do not deny health care to individuals on the basis of disability and to guarantee that people with disabilities have full access to reasonable accommodations when receiving health care and human services, free of discriminatory barriers and bias.”


    Researchers and advocates told me that the key to improving health care for those with disabilities is addressing it directly in medical education and training. “People with disabilities are probably one of the larger populations” that physicians serve, Salentine said.

    Ryan McGraw, a community organizer with Access Living, helps provide education about treating patients with disabilities to medical schools in the Chicago area. He regularly receives positive feedback from medical students but says the information needs to be embedded in the medical-school curriculum, so it’s not “one and done.”

    In one effort to address the issue, the Alliance for Disabilities in Health Care Education, a coalition of professionals and educators of which McGraw is a member, put together a list of 10 core competencies that should be included in a doctor’s education, including considerations for accessibility, effective communication, and patient-centered decision making.

    One of the simplest solutions might be hanging signs or providing accessible information in exam rooms on patients’ rights. “It’d be there for patients, but it’d be also there as a reminder to the providers. I think that’s a super easy thing to do,” Laura VanPuymbrouck says. Miles says this could be a good start, but “it’s not enough to just give people a little pamphlet that tells you about your rights as a patient.” Although all doctors should be willing and able to care for patients with disabilities, she thinks a registry that shows which providers take certain types of insurance, such as Medicaid, and also have disability accommodations, such as wheelchair-accessible equipment, would go a long way.

    Some advocates have called on the Joint Commission for more than 10 years to require disability accommodations for hospitals that want accreditation. The step could be effective, because accreditation “is extremely important” to hospitals, Lagu says.

    On January 1, 2023, new Joint Commission guidelines will require that hospitals create plans to identify and reduce at least one health-care disparity among their patients. Improving outcomes for people with disabilities could be one such goal. However, Maureen Lyons, a spokesperson for the Joint Commission, adds, “if individuals circumvent the law, standards won’t be any more effective.”

    Finally, Lagu says, “we have to pay more when you are providing accommodations that take time or cost money. There’s got to be some accounting for that in the way we pay physicians.”

    One of the most basic things people with disabilities are asking for is respect. The biggest finding of the 2021 survey, Iezzoni says, is that doctors don’t realize that the proper way to determine what accommodations a facility needs for patients with disabilities is to just ask the patients.

    “I can’t tell you how many times I go to a doctor’s office and I’m talking, but they’re not hearing anything,” Salentine says. “They’re ready to speak over me.”

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    Emma Yasinski

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  • Death in CRISPR gene therapy study sparks search for answers

    Death in CRISPR gene therapy study sparks search for answers

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    The lone volunteer in a unique study involving a gene-editing technique has died, and those behind the trial are now trying to figure out what killed him.

    Terry Horgan, a 27-year-old who had Duchenne muscular dystrophy, died last month, according to Cure Rare Disease, a Connecticut-based nonprofit founded by his brother, Rich, to try and save him from the fatal condition.

    Although little is known about how he died, his death occurred during one of the first studies to test a gene editing treatment built for one person. It’s raising questions about the overall prospect of such therapies, which have buoyed hopes among many families facing rare and devastating diseases.

    “This whole notion that we can do designer genetic therapies is, I would say, uncertain,” said Arthur Caplan, a medical ethicist at New York University who is not involved in the study. “We are out on the far edge of experimentation.”

    The early-stage safety study was sponsored by the nonprofit, led by Dr. Brenda Wong at the University of Massachusetts Chan Medical School and approved by the Food and Drug Administration. The hope was to use a gene-editing tool called CRISPR to treat Horgan’s particular form of Duchenne muscular dystrophy. The rare, genetic muscle-wasting disease is caused by a mutation in the gene needed to produce a protein called dystrophin. Most people with Duchenne die from lung or heart issues caused by it.

    At this point, it’s unclear whether Horgan received the treatment and whether CRISPR, other aspects of the study or the disease itself contributed to his death. Deaths are not unheard of in clinical trials, which test experimental treatments and sometimes involve very sick people.

    But trials involving CRISPR are relatively new. And Fyodor Urnov, a CRISPR expert at the Innovative Genomics Institute at University of California, Berkeley, said any death during a gene therapy trial is an opportunity for the field to have a reckoning.

    “Step one is to grieve for the passing of a brave human soul who agreed to be basically a participant in an experiment on a human being,” Urnov said. “But then, to the extent that we can, we must learn as much as we can to carve out a path forward.”

    FEW ANSWERS YET

    A statement from Cure Rare Disease said multiple teams across the country are looking into the details of the trial and its outcome, and the company intends to share findings with the scientific community.

    “It will probably be 3-4 months to come up with a full conclusion,” said spokesman Scott Bauman. “At this stage of the game, saying anything is pure speculation.”

    The company, which is also working on 18 other therapeutics, said in its statement that the teams’ work is essential not only to shed light on the study’s outcome but also “on the challenges of gene therapy broadly.” Meanwhile, it said, “we will continue to work with our researchers, collaborators, and partners to develop therapies for the neuromuscular diseases in our pipeline.”

    Bauman said the company has filed a report on death the with the FDA as required. The FDA declined to release or confirm the report.

    Sarah Willey, spokeswoman for Chan Medical School, said scientists there provided data to the company for the report. She later emailed to say no one there would comment further; out of respect for the family’s wishes, all information would come from Cure Rare Disease. Monkol Lek, a Yale genetics expert who has been collaborating on the effort, did not respond to a request for comment. Yale spokeswoman Bess Connolly asked a reporter for context on the story but didn’t respond to a follow-up email or phone call.

    A crucial question is whether CRISPR played a part in Horgan’s death.

    The chemical tool can be used to “edit” genes by making cuts or substitutions in DNA. The tool has transformed genetic research and sparked the development of dozens of experimental therapies. The inventors of the tool won a Nobel Prize in 2020.

    In this case, scientists used a modified form of CRISPR to increase the activity of a gene. The CRISPR therapeutic is inserted directly into the body and delivered to cells with a virus.

    But CRISPR is not perfect.

    “We know that CRISPR can miss its target. We know that CRISPR can be partially effective. And we also know that there may be issues with … viral vectors” that deliver the therapy into the body, Caplan said. “Red flags are flying here. We’ve got to make sure that they get addressed very, very quickly.”

    Safety issues have arisen in gene therapy studies before. Late last year, Pfizer reported the death of a patient in its early-stage trial for a different Duchenne muscular dystrophy gene therapy. And in a major earlier setback for the gene therapy field, 18-year-old Jesse Gelsinger died in 1999 during a study that involved placing healthy genes into his liver to combat a rare metabolic disease. Scientists later learned that his immune system overreacted to the virus used to deliver the therapy. Many recent studies, including the Cure Rare Disease trial, use a different virus that’s considered safer.

    Another difference? The recent trial involved just one person — a type of trial Caplan is skeptical about.

    Horgan’s recent death, he said, “may make us think whether we really do like studies that are just on one person, and do we want to say: ‘No, ethically, you’ve got to at least have a trial where you line up 5, 10, 20 people (and) you learn from the data.’ ”

    A ‘MEDICAL PIONEER’

    On the company’s web site, Horgan was described as a “medical pioneer” who “will be remembered as a hero.”

    In 2020, the Montour Falls, New York resident blogged that he was diagnosed with Duchenne at age 3. As a kid, he said, he loved computers — once building his own — and would play catch in the driveway with his family when he could still walk. Later in his life, he used a motorized wheelchair. He studied information science at Cornell University and went on to work at the school in the information science department.

    “As I grew up and began to understand what it meant to have DMD, my fears about this disease began to grow as it began to manifest,” Horgan wrote. “There weren’t many, or any, trials available to me through the years” — until this one brought the prospect of a customized drug.

    Horgan was enrolled in the study on Aug. 31. The plan was to suppress his immune system to prep his body for a one-time, gene-editing therapy delivered by IV at UMass medical school, followed by monitoring in the hospital. The company explained that the therapy is designed to increase the level of an alternate form of the dystrophin protein using CRISPR, with the goal of stabilizing or potentially reversing the progression of symptoms.

    Urnov, scientific director for technology and translation at the Berkeley genomics institute, said no other trial targeted this disease using this kind of virus to deliver this particular payload with its modified form of CRISPR.

    Some other gene therapy trials – such as those targeting the blood disorders sickle cell disease and beta thalassemia – involve removing stem cells from someone’s blood, using CRISPR in the lab, then putting the altered cells back into the person. The first time CRISPR was used to edit genes within the body was to address a blindness-causing mutation.

    Given the “exceptional distinctness” of the Cure Rare Disease approach, Urnov said he doesn’t think Horgan’s death will have a major impact on things like using gene therapy to fix blood diseases. But he said pinpointing the exact cause will help inform scientists throughout the field.

    “History teaches us that in the case of such fatalities – which have been rare – that a deep dive into what happened was critical for the field to move forward.”

    ———

    The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Department of Science Education. The AP is solely responsible for all content.

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