Latest news with #AngelmanSyndrome
NZ Herald
2 days ago
- General
- NZ Herald
Mount Maunganui house fire: Community rallies after Arataki family lose home
'The house was well ablaze on arrival, and the fire was extinguished just after 10.30pm. A specialist fire investigator attended. The fire started in the garage, then spread to the house.' The spokesperson said the cause was electrical. Whānau, the Arataki Primary school community and others have rallied to support the family. A whānau member started a Givealittle page, with almost $6500 raised by Friday morning. Hiini said the children attended the school, and the youngest had a 'very rare' neurological disorder called Angelman Syndrome. It causes delayed development, problems with speech and balance, and sometimes, seizures. Belongings destroyed included specialised items essential for the youngest child's daily comfort and wellbeing, including supportive seating, feeding equipment and sensory aids, she said. Hiini said the parents met with her on Tuesday and were struggling to come to terms with their 'devastating loss'. 'They're still in shock and trying to process what has happened. They had no contents insurance.' The children's mother said she and her partner were 'exhausted and hadn't slept' since the blaze. Hiini said the father had described to her how the tragedy unfolded. He was watching TV alone and heard a 'loud popping noise' and discovered there was fire in the garage. He rushed to wake his partner and the children and got them safely out of the house. The father then grabbed a fire extinguisher but the fire was 'too fierce'. 'He then ran outside to get a hose, but the fire quickly spread to the house and soon engulfed it.' The mother called 111. A relative came and picked up the children, who were only wearing their pyjamas, and the shocked couple 'watched helplessly' as their home and belongings went up in flames. Hiini said the family were staying with a whānau member and a family friend, but on Thursday, they received an offer of a new rental property. The family expected to pick up the keys over the weekend, she said. 'It's heartbreaking that one of our whānau has suffered such a devastating loss. Our wonderful Arataki community and others have rallied to provide incredible support to help them get back on their feet.' Hiini said the school hall was a drop-off point for donations of good-quality items on Monday and Tuesday next week. Hiini said she would ensure the whanau received items in good condition. Donations had met their immediate clothing needs. She said cash donations would help the family buy some bigger items such as beds, bedroom, dining and lounge furniture, and kitchen appliances such as a fridge/freezer. The family had hired a storage shed for larger donated items until they could be moved to their new rental, Hiini said. 'Thank you to all those who have supported this whānau, who need lots of support. Our community is amazing.' Fire safety advice A Fire and Emergency NZ spokesperson said a fire could be 'unsurvivable within just three minutes'. 'That's why it's so important to get early warning of fire from your smoke alarms. Make sure you have working smoke alarms in all bedrooms, hallways, and living areas – including caravans and in sleepouts.' The spokesperson said when smoke alarms go off, 'get out and stay out'. 'Make sure your family has a three-step escape plan, which includes working smoke alarms, knowing the best and alternative ways out and having a safe meeting place. Sandra Conchie is a senior journalist at the Bay of Plenty Times and Rotorua Daily Post who has been a journalist for 24 years. She mainly covers police, court and other justice stories, as well as general news. She has been a Canon Media Awards regional/community reporter of the year.
Yahoo
31-07-2025
- Business
- Yahoo
Ultragenyx Completes Enrollment of Phase 3 Aspire Study Evaluating GTX-102 for the Treatment of Angelman Syndrome
Company expects to complete Phase 3 Aspire study in the second half of 2026 Aurora study of GTX-102 in additional ages and genotypes on track to initiate in the second half of 2025 NOVATO, Calif., July 31, 2025 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE) today announced that the Phase 3 Aspire study evaluating GTX-102 (apazunersen) as a treatment for Angelman Syndrome is fully enrolled, with approximately 129 participants ages four to 17 with a genetically confirmed diagnosis of full maternal UBE3A gene deletion. 'The accelerated enrollment of the Phase 3 Aspire study underscores the urgent need and strong desire for an effective treatment for these patients. Support from the Angelman syndrome community was critical to the achievement of this important milestone for GTX-102 with completion of enrollment in seven months. We are grateful to the study site teams, investigators, and families for their dedication and support,' said Eric Crombez, M.D., chief medical officer at Ultragenyx. 'The continued developmental gains observed in the Phase 1/2 study provide a strong foundation as we advance this program with the potential to address the underlying genetic cause of this disease and enhance the quality of life for children living with Angelman syndrome.' Jean-Baptiste Le Pichon, MD, PhD, FAAP, Interim Division Director, Neurology; Madison Lauren Sargent Endowed Professorship in Neurology/Angelman Syndrome, Children's Mercy and an investigator on the Aspire study, added: 'Today there are thousands of children and adults in the U.S. living with Angelman syndrome, with no cure or hope. To have a treatment in development with the potential to correct the underlying genetic error that forms the basis of Angelman syndrome, restore protein function, and recover function for patients is extremely meaningful. Completing enrollment of this study is a major milestone, and I eagerly look forward to additional data that builds on the promising preliminary results from the previous Phase 1/2 study.' Enrollment in the global Phase 3 Aspire study (NCT06617429) began in December 2024. Participants are randomized 1:1 to receive GTX-102 by intrathecal injection via lumbar puncture or to the sham comparator group for a period of 48 weeks. Participants in the active treatment group will receive three monthly 8 mg loading doses of GTX-102, followed by dosing in a maintenance period that will increase to a maximum dose of 14 mg of GTX-102 quarterly. Participants in the sham comparator group will be eligible to cross over onto treatment after completing their Week 48 assessments. The primary endpoint will be improvement in cognition assessed by Bayley-4 cognitive raw score, and the key secondary endpoint (with a 10% allocation of alpha) will be the Multi-domain Responder Index (MDRI) across the five domains of cognition, receptive communication, behavior, gross motor function, and sleep. Study completion is expected in the second half of 2026 and Ultragenyx plans to move with urgency to provide topline data and progress to regulatory submission. About GTX-102 (apazunersen)GTX-102 (apazunersen) is an investigational antisense oligonucleotide (ASO) therapy delivered via intrathecal administration and designed to target and inhibit expression of the UBE3A-AS to prevent silencing of the paternally inherited allele of the UBE3A gene and reactivate expression of the deficient protein. GTX-102 has been granted Breakthrough Therapy Designation, Orphan Drug Designation, Rare Pediatric Disease Designation, and Fast Track Designation from the FDA and Orphan Designation and PRIME designation from the EMA. About Angelman SyndromeAngelman syndrome is a rare, neurogenetic disorder caused by loss-of-function of the maternally inherited allele of the UBE3A gene. The maternal-specific inheritance pattern of Angelman syndrome is due to genomic imprinting of UBE3A in neurons of the central nervous system (CNS), a naturally occurring phenomenon in which the maternal UBE3A allele is expressed and the paternal UBE3A is not. Silencing of the paternal UBE3A allele is regulated by the UBE3A-AS, the intended target of GTX-102. In almost all cases of Angelman syndrome, the maternal UBE3A allele is either missing or mutated, resulting in limited to no protein expression. This condition is generally not inherited but instead occurs spontaneously. It is estimated to affect approximately 60,000 people in commercially accessible geographies. Angelman syndrome is a lifelong neurodevelopmental disorder that causes cognitive impairment, motor impairment, balance issues and debilitating seizures. Some individuals with Angelman syndrome are unable to walk and most do not speak. Anxiety and disturbed sleep can be serious challenges in individuals with Angelman syndrome. Although individuals with Angelman syndrome have a normal lifespan, they require continuous care and are unable to live independently. Angelman syndrome is not a degenerative disorder, but the loss of the UBE3A protein expression in neurons results in abnormal communications between neurons. Angelman syndrome is often misdiagnosed as autism or cerebral palsy. There are no currently approved therapies for Angelman syndrome; however, several symptoms of this disorder can be reversed in adult animal models of Angelman syndrome, suggesting that improvement of symptoms can potentially be achieved at any age. About UltragenyxUltragenyx is a biopharmaceutical company committed to bringing novel therapies to patients for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved medicines and treatment candidates aimed at addressing diseases with high unmet medical need and clear biology, for which there are typically no approved therapies treating the underlying disease. The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx's strategy is predicated upon time- and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency. For more information on Ultragenyx, please visit the company's website at: Forward-Looking Statements and Use of Digital MediaExcept for the historical information contained herein, the matters set forth in this press release, including statements related to Ultragenyx's expectations and projections regarding its future operating results and financial performance, business plans and objectives for GTX-102, expectations regarding the tolerability and safety of GTX-102, anticipated timing of data from ongoing GTX-102 studies, anticipated timing for initiation and completion of GTX-102 studies, and future clinical and regulatory developments for GTX-102 are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. Such forward-looking statements involve substantial risks and uncertainties that could cause our clinical development programs, collaboration with third parties, future results, performance or achievements to differ significantly from those expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, the uncertainty of clinical drug development and unpredictability and lengthy process for obtaining regulatory approvals, the ability of the company to successfully develop GTX-102, the company's ability to achieve its projected development goals in its expected timeframes, the risk that results from earlier studies may not be predictive of future study results, risks related to adverse side effects, risks related to reliance on third party partners to conduct certain activities on the company's behalf, smaller than anticipated market opportunities for the company's products and product candidates, manufacturing risks, competition from other therapies or products, and other matters that could affect sufficiency of existing cash, cash equivalents and short-term investments to fund operations, the company's future operating results and financial performance, the timing of clinical trial activities and reporting results from same, and the availability or commercial potential of Ultragenyx's products and drug candidates. Ultragenyx undertakes no obligation to update or revise any forward-looking statements. For a further description of the risks and uncertainties that could cause actual results to differ from those expressed in these forward-looking statements, as well as risks relating to the business of Ultragenyx in general, see Ultragenyx's Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) on May 7, 2025, and its subsequent periodic reports filed with the SEC. In addition to its SEC filings, press releases and public conference calls, Ultragenyx uses its investor relations website and social media outlets to publish important information about the company, including information that may be deemed material to investors, and to comply with its disclosure obligations under Regulation FD. Financial and other information about Ultragenyx is routinely posted and is accessible on Ultragenyx's Investor Relations website ( and LinkedIn website ( Ultragenyx Contacts InvestorsJoshua Higair@ MediaJess Rowlands media@
Malaysian Reserve
09-07-2025
- Health
- Malaysian Reserve
Yale School of Medicine Receives $27.7 Million Grant Toward Autism Research
NEW HAVEN, Conn., July 8, 2025 /PRNewswire/ — Yale School of Medicine (YSM) was awarded a $27.7 million grant from Aligning Research to Impact Autism (ARIA) to develop an interdisciplinary research project to investigate non-invasive functional communication methods through large-scale brain modeling in autism spectrum disorder (ASD). 'We are grateful to the ARIA initiative for its vision and generous support of this transformative work. It has the potential to change fundamentally how we treat children with severe neurodevelopmental disorders,' said Nancy J. Brown, MD, the Jean and David W. Wallace Dean of Yale School of Medicine. 'It underscores the strength of partnership in driving innovative solutions and transforming lives.' Led by Murat Günel, MD, chair of the Department of Neurosurgery, Sterling Professor of Neurosurgery, and professor of genetics and of neuroscience at YSM, the interdisciplinary research project aims to leverage state-of-the-art technologies and cross-departmental expertise to develop large brain models that will serve as the basis for personalized, circuit-based therapies. ASD affects 1 in 36 children in the United States and 1 in 100 children worldwide, presenting with myriad challenges, including language and social communication difficulties, repetitive behaviors, and sensory processing issues. Autism often co-occurs with epilepsy, mood conditions, and sleep disturbance. The variability in symptoms and the intricate nature of the brain's involvement make treating the co-features associated with autism particularly challenging. Current treatments focus on managing symptoms through behavioral therapy, medication, and educational support, but there remains an unmet need for more effective and personalized interventions. Pioneering New TreatmentsYale seeks to address this treatment gap by identifying the brain circuits responsible for key ASD-related co-features and to modify those circuits non-invasively in real-time to benefit people with autism. The research will initially focus on identifying novel approaches to establish or improve verbal and non-verbal communication, as well as co-occurring conditions such as sleep disturbances and anxiety. By understanding the neural circuits responsible for these morbidities, Yale aims to develop non-invasive neuromodulation techniques to restore their function. A key strength of this project is the integration of data from three distinct cohorts: individuals with ASD, patients with drug-resistant epilepsy, and those with Angelman Syndrome, a condition marked by severe speech and language impairments, sleep disturbances, and anxiety due to a single gene mutation. The study will collect noninvasive clinical and behavioral evaluations developed for use in multisite autism studies in parallel with advanced neural and imaging technologies. The inclusion of epilepsy patients, in particular, offers a significant advantage due to the collection of intracranial recordings during the course of epilepsy monitoring and treatment—an area of expertise for the Yale neurosurgical team. These recordings allow for a detailed examination of circuit-level functions, informing the understanding of autism in ways not otherwise possible. 'Our vision is to translate our understanding of brain circuitry into practical treatments that restore neurological function,' Günel explains. 'This integrated approach will not only improve outcomes for individuals with autism but also pave the way for addressing other neurodevelopmental disorders.' Big Data, Digital Twins, and AICentral to the research initiative is the use of mathematical and computer algorithms to decode complex neural signals and create large brain models. By integrating patient data from imaging, intracranial EEG (electroencephalogram) recordings, and other sources, these models will represent virtual replicas of patients' brains. Using these models, researchers can pinpoint precise neural targets for intervention. Continuously updated with patient data, these comprehensive simulations will provide deep insights and facilitate meaningful comparisons across individuals and groups, enhancing the precision of therapeutic interventions. Günel explains, 'Using advanced AI and machine learning techniques, we can create individualized brain models that simulate potential treatments, thereby refining our approaches before clinical application.' A Fusion of DisciplinesThe project brings together more than 30 individuals from many Yale departments, schools, and centers, including neurosurgery, neurology, psychiatry, psychology, engineering, statistics and data science, applied mathematics, law, and digital ethics. This collaborative effort ensures that each aspect of autism—from neural circuitry to behavioral manifestations to ethics—is examined through multiple lenses. The Yale Child Study Center, renowned for its work in child development and neurodevelopmental disorders, will play a central role in the clinical care of patients involved in the study. Advanced imaging techniques will be provided by the Yale Biomedical Imaging Institute and the Wu Tsai Institute, ensuring precise mapping of brain structures and functions. The School of Engineering & Applied Science's expertise in computational modeling and AI will support large brain modeling aspects of the initiative. Lastly, Günel notes that a pivotal element of this initiative is the major collaboration with Yale New Haven Health, which ensures that clinical translational projects have the necessary infrastructure and support, facilitating seamless integration of research findings into clinical practice. Brown emphasizes the significance of Yale's collaborative spirit: 'By bringing together experts and resources from across the university and collaborating with Yale New Haven Health System to make this work accessible to patients, we harness the power of interdisciplinary research to achieve breakthroughs that would not transpire in isolation.' Aligning Research to Impact AutismARIA is a scientific initiative to accelerate understanding and treatment of autism and related neurodevelopmental conditions through alignment, collaboration, and cutting-edge research. ARIA connects emerging research, insights, and promising technologies from across scientific fields to create more therapeutic opportunities for people with profound autism and people on the spectrum who seek additional support. Its focus areas include building a clinical trial and translational research network to rapidly develop and test new therapies, funding frontier science, and facilitating data sharing. ARIA is led by Managing Director Ekemini Riley, PhD, of the Coalition for Aligning Science and Scientific Director Matthew State, PhD, of the University of California San Francisco, on behalf of the Sergey Brin Family Foundation. About Yale School of MedicineYale School of Medicine educates leaders in medicine and science, fostering curiosity and critical inquiry. It is a global leader in biomedical research, clinical care, and medical education. With over 1,700 physicians, Yale provides compassionate care to patients worldwide. The Yale System of Medical Education emphasizes critical thinking and independent research, producing leaders in academic medicine.
Business Insider
23-06-2025
- Health
- Business Insider
I founded a multimillion-dollar slime company with a friend. I can provide better care for my nonverbal child because of it.
This as-told-to essay is based on a conversation with Sara Schiller, cofounder of Sloomoo Institute. It has been edited for length and clarity. My 17-year-old daughter, Sammy, was born with a rare genetic condition called Angelman Syndrome. It causes neurological issues and developmental delays, but happiness is one symptom. Like any mom, I want my daughter to be happy, so I feel that Sammy won the lottery of disability. Still, she needs more care than a typical child. She attends school and has a full-time caregiver at home, including at night. Raising Sammy, plus my 13-year-old Charley, has been challenging. Then, 10 years ago, my husband Marc had a stroke. He was in the hospital for six months. Today, he is also nonverbal and needs help with all the activities of daily life. My cofounder was grieving when she discovered the joy of slime My best friend Karen has been with me through all of this. She's known me from the time Sammy was a baby. Loving someone who experiences the world differently changed how both of us see the world. Karen has been a great support for me, but she's also had her share of tragedy. Karen's husband died about eight years ago. Just a few months later, her cousin was murdered in the Parkland school shooting. I tried to be there for Karen during that time, but she became very depressed, and there wasn't much I could do to make her feel better. Then she found relief in an unexpected place: slime. Slime is an activity that my daughters can do equally All parents are probably familiar with slime. In case you're not, slime is made from simple materials like glue, water, and borax. It behaves like a liquid and a solid, making it fun to play with. Karen isn't a mom, so she first experienced slime when a friend's daughter brought it to her house. She later told me that four hours of playing passed in a flash. It was the first time she felt joy after losing her husband. When Karen brought slime to my house, I noticed that Sammy and Charley both loved it. It's one of very few activities they can do together and be equal, and that meant so much to me. Five years later, we grossed $39 million Karen and I became obsessed with slime because we believed it had the power to help people heal. With our shared background in public art, we decided to open a slime experience, beginning with a six-month pop-up in October 2019 in Manhattan. When 3,000 people visited on the first day, we knew we were onto something big. We looked at each other, like, "What did we create?" Before our pop-up ended, the city was shut down due to COVID. We stayed open as much as possible and used the pandemic to plan for long-term growth for our company, Sloomoo Institute. Today, Sloomoo has five locations. In 2024, we did more than $39 million in gross revenue. I'm able to hire help at home to be a better mom and founder The financial success of Sloomoo has allowed me to know my family will be all right. Taking care of two people who need round-the-clock care for the rest of their lives is a daunting journey to be on. For a long time, I wasn't focused on killing it at work, because my duties at home demanded so much. Once I started Sloomoo, I was determined to make it successful. I wanted to show my girls that you can be down and out and still make something momentous and profitable while giving back. Sloomoo not only helps families put down their phones and play together, but we're also dedicated to making sure 10% of our workforce identifies as neurodiverse. Today, I have lots of hired help at home. Marc and Sammy both have caregivers, including overnight help. I have a household manager who handles grocery shopping and meal prep tasks. Knowing I can come home to a warm dinner waiting makes me a better mom and entrepreneur. We want others to experience joy Sloomoo was born out of the personal trauma that Karen and I experienced. We wanted to use that to help others experience joy. That's where slime gets interesting. You might think it's just for kids, but it's not. Play is important for adults' health too, and we have both personally seen that we feel better playing with slime. When people enter our exhibits, they must put down their phones and truly get their hands slimy. Sloomoo gives people permission to play and connect. We didn't foresee this when we started the business, but it's one of the things we value most today.
Yahoo
23-06-2025
- Business
- Yahoo
First Patient Dosed In Phase 3 REVEAL Study Of ION582 For Angelman Syndrome
Ionis Pharmaceuticals, Inc. (NASDAQ:IONS) is among the 11 Best Genomics Stocks to Buy According to Hedge Funds. The initial participant in the pivotal Phase 3 REVEAL trial, which is assessing ION582 for Angelman syndrome, a severe neurodevelopmental disease, has been dosed by Ionis Pharmaceuticals, Inc. (NASDAQ:IONS). A scientist in a laboratory making a breakthrough discovery in biotechnology. The randomized, placebo-controlled research will include approximately 200 people with UBE3A gene deletions or mutations. The main goal of the 52-week trial will be expressive communication, and quarterly 40 mg or 80 mg dosages of ION582 will be evaluated. The trial intends to finish enrollment in 2026 and is based on positive Phase 1/2 HALOS results.' ION582 is an antisense RNA treatment that inhibits UBE3A-ATS to promote UBE3A protein. The FDA has designated it as a Rare Pediatric Disease, Fast Track, and Orphan Drug. Globally, 1 in 21,000 individuals suffer from Angelman syndrome, which results in severe physical and cognitive impairments. Ionis Pharmaceuticals, Inc. (NASDAQ:IONS), which developed SPINRAZA and QALSODY, is expanding its neurology portfolio, with eight wholly owned treatments in development for rare and common disorders, including Alzheimer's and Parkinson's disease. While we acknowledge the potential of IONS as an investment, we believe certain AI stocks offer greater upside potential and carry less downside risk. If you're looking for an extremely undervalued AI stock that also stands to benefit significantly from Trump-era tariffs and the onshoring trend, see our free report on the best short-term AI stock. READ NEXT: 10 High-Growth EV Stocks to Invest In and 13 Best Car Stocks to Buy in 2025. Disclosure. None. Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
