A small fragment of the huntingtin protein, called HTT1a, may play an important role in the development of Huntington’s disease, the findings of a mouse study suggest. According to the scientists, this protein fragment was seen to trigger the disease in the mice. When researchers blocked the production of this small fragment in the brains […]
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The women in my life — my wife, Jill, and our daughter, Alexus — are the kind who can do absolutely anything they set their minds to. Both would call themselves feminists, not just in words but in the way they live: taking on challenges, speaking their minds, and refusing to let anyone or anything define their limits. […]
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There is a type of grief that isn’t always discussed in the Huntington’s disease community, even though many of us live with it every day. It’s the grief of losing versions of yourself while still being very much alive. I have grieved the loss of some of my abilities. I have grieved the ease with […]
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An interaction between two proteins — one called Rhes and the other Slc4a7 — helps to build tiny tunnels between nerve cells that allow mutant huntingtin protein, the cause of Huntington’s disease, to move from one neuron to another and spread throughout the brain. Those are the findings of a new preclinical study, led by […]
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Rare Disease Week at the end of February reminded me of the time when my wife, Jill, attended a rare disease advocacy panel several years ago. When she arrived home afterward, she was visibly frustrated. As someone diagnosed with Huntington’s disease and as a fierce advocate not only for Huntington’s, but for all rare disease […]
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One of the most exhausting parts of living with Huntington’s disease isn’t always the symptoms. Sometimes it’s having to constantly explain them (or at least try). There’s a phrase many of us with chronic illness have heard far too often: “But you don’t look sick.” People usually say it like it’s a compliment. They think […]
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Roflumilast, an oral therapy approved in the U.S. to treat inflammatory lung disease, was shown to reduce brain inflammation, promote the health of connections between brain cells, and ease symptoms in a rat model of Huntington’s disease. According to the research team, from Cairo University in Egypt, these beneficial effects were driven by reductions in […]
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Last October, I wrote about a potential gene therapy for Huntington’s disease, an illness my family is very familiar with, as my wife, Jill, and daughter, Alexus, are both gene-positive. The experimental treatment is called AMT-130. According to uniQure, the therapy’s developer, top-line data from two Phase 1/2 clinical trials showed that it slowed Huntington’s […]
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There was a time when I measured a good day by how closely it resembled my old life. Could I move fast enough? Think clearly enough? Get everything done on my to-do list? Look “normal” enough in public so that no one stared too long or asked if I was OK? For a long time, […]
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Women with Huntington’s disease are more likely to experience irritability and to be unemployed or working part-time than men with the neurodegenerative condition, according to a small, single-center study in Austria. Men and women with Huntington’s showed similar genetic burden, age at disease onset, and motor symptom severity, suggesting that sex-related differences in Huntington’s may […]
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Several years ago, at a family reunion, I discovered something remarkable about my wife Jill’s approach to difficult conversations that has stayed with me ever since. This discovery has become even more important as Jill deals with the challenges of being gene-positive with Huntington’s disease (HD). At the reunion, Jill sat with her extended family, engaging […]
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I can feel it before anyone says a word. It’s in the pause that comes after I mention Huntington’s disease. It’s in the quick scan of my body, my hands, my face, the way I shift my weight like they’re looking for proof. It’s in the softened voice, the head tilt, the “Oh wow. You’re […]
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The U.S. Food and Drug Administration (FDA) has asked uniQure to conduct an additional clinical trial before submitting an application seeking approval of its experimental gene therapy, AMT-130, for Huntington’s disease. That’s according to a press release from uniQure announcing the final minutes of a Type A meeting held with the agency on Jan. 30 […]
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If there’s one thing Huntington’s disease (HD) has taught me and my wife, Jill, who is gene-positive with the illness, it’s that rest isn’t a reward; it’s a necessity. Between the disease’s relentless advancement, the daily logistics of symptom management, and the invisible emotional toll, we sometimes forget that our batteries need charging, too. HD […]
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The thing about being present in public is that people think it’s just a mindset. Like you decide to show up, take a deep breath, smile, and you’re there — grounded, confident, fine. But when you live with Huntington’s disease, being present in public can feel like a full-time job you don’t get paid for. […]
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Combining pridopidine and FA10, two investigational compounds for Huntington’s disease that target different proteins in the brain, was found to protect against nerve cell death better than either treatment alone. That’s according to a new study that used a cellular model of the genetic disorder to assess the potential benefits of using these two different […]
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For years before her 2018 diagnosis with Huntington’s disease (HD), my wife, Jill, worked with children at a school. One of her fondest memories is of seeing shy children find their voice thanks to a teacher’s encouragement. “All they needed,” she said, “was for someone to say to them, ‘Your voice matters.’” The HD community […]
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Some days, my brain feels like it’s buffering. Not in a dramatic, emergency kind of way. It’s more like I’m standing in my kitchen with a cup in my hand, trying to remember why I walked in there in the first place. I can see what needs to happen next, but I can’t always access […]
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U.K. biotech company Harness Therapeutics has selected HRN001 as its lead experimental treatment candidate for Huntington’s disease. “The nomination of HRN001 represents a pivotal milestone for Harness and underscores our commitment to the Huntington’s disease community,” Jan Thirkettle, PhD, CEO of Harness, said in a company press release. The therapy works by increasing levels of […]
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When a building catches fire, most of us instinctively move back. We watch from the sidewalk, hoping the flames die down, grateful for any distance between us and the danger. Firefighters are different. They hear the alarm, size up the risk, and move toward the heat, knowing there are no guarantees, only training, courage, and […]
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Dating with Huntington’s disease (HD) has taught me how quickly people confuse honesty with a warning label. I used to believe that telling the truth early on in the process was the kindest thing I could do. I still believe in honesty, but I’ve learned that it doesn’t protect me from being misunderstood. Sometimes it […]
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The New Zealand Medicines and Medical Devices Safety Authority (Medsafe) has given Sarepta Therapeutics the go-ahead to start a first-in-human Phase 1 clinical trial of its investigational therapy SRP-1005 for Huntington’s disease. Sarepta plans to start the trial, dubbed Study SRP-1005-101 or INSIGHTT, between April and June, according to a company press release. It will evaluate the safety […]
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Every year, I write my wife, Jill, something romantic in this column, such as a Valentine’s Day play. This year, she looked at me, half amused and half worried, and said, “Carlos, I don’t know how you haven’t run out of puns by now.” The real issue was unspoken: How many more years do we […]
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February has a quiet way of exposing what the holidays can hide. In December, people check in. They send the “thinking of you” texts. They ask how you’re holding up. Even the people who don’t know what to say still make an effort to say something, because the season almost gives them permission to be […]
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Nine months of treatment with Skyhawk Therapeutics’ oral candidate SKY-0515 appears to have slowed disease progression relative to its natural course in people with early-stage Huntington’s disease. That’s according to new interim data from a substudy, or Part C (ACTRN12624000602527), of an Australia-based Phase 1 clinical trial (ACTRN12623001161617) involving adults with the progressive disorder. Further, these results […]
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