Materiały źródłowe

• #1 Angelman Syndrome: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17978-angelman-syndrome

  Angelman syndrome cant be prevented because it happens due to random genetic changes during fetal development. In most cases, this happens without a known cause. […] Its rare, but some people inherit this condition. If you plan on having a biological child, talk with your healthcare provider about genetic counseling to understand your risk of having a child with a genetic condition or a condition that can be caused by an inherited genetic variant.

• #1 Angelman syndrome // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/angelman-syndrome

  Rarely, Angelman syndrome may be passed from an affected parent to a child through changed genes. If you’re concerned about a family history of Angelman syndrome or if you have a child with the condition, seek medical advice. Your healthcare professional or a genetic counselor can help you plan future pregnancies.

• #1 Angelman syndrome – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/angelman-syndrome/

  In rare cases, Angelman syndrome may be passed from an affected parent to a child through defective genes. If you’re concerned about a family history of Angelman syndrome or if you already have a child with the disorder, consider talking to your doctor or a genetic counselor for help planning future pregnancies.

• #1 Reducing Your Risk of Having a Child With Angelman Syndrome?Envelope icon

  https://angelmansyndromenews.com/health-insights/reducing-your-risk-of-having-a-child-with-angelman-syndrome/

  You may have concerns about the risk of having a child with Angelman syndrome, especially if you have a family history of the disease, including an older child with this disease. […] Still, there some steps you may want to consider in lowering the risk. […] If you choose to conceive naturally, you can request a genetic test of the fetus. This is called a prenatal genetic diagnosis. […] Following genetic testing, your doctor will discuss the results of the test with you. This will allow you to make decisions moving forward. […] Pre-implantation genetic diagnosis is a process by which clinicians can screen an embryo created by in vitro fertilization (IVF) for genetic diseases prior to implantation. […] Doctors can implant only those embryo showing no sign of Angelman syndrome in the mother’s uterus.

• #1 Angelman Syndrome Treatment Efforts and a Novel Prenatal Strategy – Oligonucleotide Therapeutics Society

  https://www.oligotherapeutics.org/angelman-syndrome-treatment-efforts-and-a-novel-prenatal-strategy/

  Prenatal delivery of an antisense oligonucleotide (ASO) could offer a novel strategy for early treatment of Angelman syndrome, and a study published in Molecular Therapy this past April used mouse models of the disease to test if this could work. […] The possibility for less invasive, in-utero treatment of genetic conditions like Angelman syndrome could potentially help prevent the onset of irreversible organ damage and allow access to neurons when the blood-brain barrier is more permeable. […] These findings offer a novel strategy for early treatment of AS using an ASO, with two potential routes of administration in the prenatal window.

• #1 Angelman Syndrome: New In Utero Candidate Therapy Revealed – BioTechniques

  https://www.biotechniques.com/molecular-biology/angelman-syndrome-novel-in-utero-therapeutic-candidate-promotes-less-invasive-amniotic-delivery/

  A recent mouse model study reveals that a novel in utero treatment for Angelman syndrome delivered through amniotic fluid is as effective as delivery via cerebrospinal fluid. […] Current treatments focus on the management of symptoms, using treatments such as anti-seizure medication and physical therapy, without addressing the root cause of the disease. […] A prenatal approach could help prevent the onset of irreversible organ damage and enable access to neurons during a period when the blood-brain barrier is more permeable. […] Both types of prenatal injections we tried, into the cerebrospinal fluid (IC injection) and the amniotic fluid (IA injection), allowed the therapy to penetrate deep regions of the brain that are critical areas to treat for Angelman Syndrome, said Maria Clark (UCSF), first author of the study. This is a big hurdle to overcome when treating genetic conditions of the nervous system.

• #1 News: A Single Cas9 Injection Could Mean a Lifetime of Treatment for Angelman Syndrome – CRISPR Medicine

  https://crisprmedicinenews.com/news/a-single-cas9-injection-could-mean-a-lifetime-of-treatment-for-angelman-syndrome/

  A CRISPR-Cas9 treatment reactivated a crucial gene in mice and human neurons hinting at a possible one-time treatment for Angelman syndrome. […] In a new first, scientists have developed what could become a one-time Cas9 treatment for Angelman syndrome that would replace frequent, invasive injections. […] Angelman syndrome patients typically live through adulthood, so a one-time treatment could do away with years’ worth of frequent doctor visits and injections. […] The approach is new, but the end goal is not: Other treatments for Angelman syndrome will likely become available first, according to Arthur Beaudet. […] An oligonucleotide treatment, which was first demonstrated in Arthur Beaudet’s lab, could make a huge difference for Angelman families if the clinical trials go well. […] If you can replicate what the [oligonucleotides] do in a therapy that can be injected only once that’s going to reduce the cost, that’s going to reduce the complexity for that individual over their lifespan.

• #1 News: A Single Cas9 Injection Could Mean a Lifetime of Treatment for Angelman Syndrome – CRISPR Medicine

  https://crisprmedicinenews.com/news/a-single-cas9-injection-could-mean-a-lifetime-of-treatment-for-angelman-syndrome/

  By contrast, a gene-editing therapy like the one Zylka developed could be a one-and-done shot, and if administered prenatally or early enough in childhood, a patient and their family would be able to reap the greatest therapeutic benefits. […] We can detect it [early] and have one single injection that can last the duration of the life of the child, says Zylka. […] It looks like the benefit is going to be the greatest if you do treatment as early as possible. […] Arthur Beaudet suggests that the future of Angelman medicine may not lie in treatment at all, but rather in earlier prenatal screening and a broader social acceptance for terminating pregnancies to try again. […] For them, he says, the new CRISPR-Cas9 treatment has the potential to be an incredible source for good.

• #1 Gene therapy shows early promise as Angelman syndrome treatment | Braceworks Custom Orthotics

  https://braceworks.ca/2022/03/18/health-tech/gene-therapy-shows-early-promise-as-angelman-syndrome-treatment/

  Scientists at the UNC School of Medicine have reported in the journal JCI Insight encouraging early tests of a gene therapy strategy against Angelman syndrome, a neurodevelopmental disorder that features poor muscle control and balance, hard-to-treat epilepsy, and intellectual disabilities. […] Led by Ben Philpot, PhD, and Matt Judson, PhD, the new therapy was generally well-tolerated and prevented key signs of the condition in animal models. […] Philpot and colleagues verified that vector-borne UBE3A became active in neurons throughout the Angelman model mouse brain just days after injection, at a level similar to that of the normal gene. […] The researchers plan to further develop their strategy, first with more tests in mice and monkeys to optimize dose and delivery methods, and ultimately, pending promising safety results, human clinical trials.

• #1 Gene therapy shows early promise as Angelman syndrome treatment | Braceworks Custom Orthotics

  https://braceworks.ca/2022/03/18/health-tech/gene-therapy-shows-early-promise-as-angelman-syndrome-treatment/

  If such a therapy were available, the researchers expect it might be able to deliver benefits to individuals of any age, but perhaps with varying benefits. […] „The range from birth to four years is probably ideal, but we think that whenever we can reinstate this gene’s function in the brain, we’re likely to see some improvements,” Philpot said.

• #1 Therapeutic for Angelman syndrome to advance into clinical trials

  https://www.drugtargetreview.com/news/108805/first-molecular-therapeutic-for-angelman-syndrome-to-advance-into-clinical-trials/

  The scientists from Texas AM have developed GTX-102, a novel therapeutic candidate to target Angelman syndrome by reactivating expression of deficient protein. […] There are no approved therapies for AS, and the current standard of care is focused on behavioural therapy and controlling specific symptoms, specifically the seizures that often affect patients with AS. […] The team, therefore, began their research looking for a way to prevent the silencing of the paternal UBE3A gene and reactivate expression of the deficient protein. […] In theory, this treatment goes after the heart of the condition. […] Moving forward, our research and findings not only offer promise for AS but also provide a path forward for developing ASO therapies for other genetic disorders.

• #1 Scientists Take Major Step Toward Angelman Syndrome Gene Therapy | Newsroom

  https://news.unchealthcare.org/2020/10/scientists-take-major-step-toward-angelman-syndrome-gene-therapy/

  Babies born with a faulty maternal copy of the UBE3A gene will develop Angelman syndrome, a severe neurodevelopmental disorder with no cure and limited treatments. […] The idea is to use genetic tests to identify babies that are likely to develop Angelman syndrome, treat prenatally or around the time of birth, and then use these early symptoms as endpoints to evaluate efficacy in a clinical trial, Zylka said. Our data and that of other groups clearly indicate that prenatal treatment has the potential to prevent Angelman syndrome from fully developing.

• #1 Angelman Syndrome: How late is too late for treatment? | eLife

  https://elifesciences.org/articles/86117

  An approach called antisense oligonucleotide (ASO) therapy has ushered in a new age in genetic medicine. […] Angelman syndrome is a neurodevelopmental disorder that is considered an ideal candidate for ASO therapy. […] Using ASO therapy to interfere with the antisense transcript and thus allowing the intact copy of UBE3A to be expressed is a promising approach for the treatment of Angelman syndrome. […] The findings of Lee et al. illustrate that it may be possible to treat some aspects of Angelman syndrome after birth, and even into adulthood, using ASO therapeutics. This challenges the current view of what symptoms of Angelman syndrome are treatable, and at what age. […] These results indicate that the therapeutic window of genetic therapies for Angelman syndrome is broader than previously thought, and EEG power spectrum and sleep architecture should be used to evaluate the clinical efficacy of therapies.

• #1 Health & Prevention in Angelman Syndrome

  https://cureangelman.org/articles/community-update-health-prevention

  We want to take a moment to acknowledge a recently published study that explores mortality risks in individuals with Angelman syndrome (AS). […] One of the most notable findings is the potential link between pneumonia and silent aspiration in individuals with AS, reinforcing the importance of monitoring swallowing difficulties and choking risks. With greater awareness, caregivers and clinicians can implement early interventions that may reduce health risks and improve quality of life. […] The AS Standards of Care provide expert-driven guidelines on best practices for medical care, therapy, and long-term management. These recommendations help families and healthcare providers make informed decisions to support the well-being of individuals with AS. […] Since epilepsy is common in AS, ensuring proper treatment and monitoring can help reduce seizure-related risks. The ASF Seizure Toolkit provides guidance on managing epilepsy in AS. […] There are multiple clinics around the world that provide expert care tailored to individuals with AS, offering guidance on health monitoring and preventive care strategies. Check with your local AS organization to learn more about the clinics and resources that are close to you.

• #1 Angelman syndrome Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/angelman-syndrome

  There is no way to prevent Angelman syndrome. If you have a child with AS or a family history of the condition, you may want to talk with your provider before becoming pregnant.

• #2 Angelman syndrome Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/angelman-syndrome

  There is no way to prevent Angelman syndrome. If you have a child with AS or a family history of the condition, you may want to talk with your provider before becoming pregnant.

• #2 Angelman syndrome // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/angelman-syndrome

  Rarely, Angelman syndrome may be passed from an affected parent to a child through changed genes. If you’re concerned about a family history of Angelman syndrome or if you have a child with the condition, seek medical advice. Your healthcare professional or a genetic counselor can help you plan future pregnancies.

• #2 Angelman Syndrome – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/angelman-syndrome/

  There is no way to prevent AS. However, it can sometimes be diagnosed with genetic testing early in pregnancy. In vitro fertilization (IVF) allows eggs to be fertilized outside the body. In IVF, an embryo can be tested for AS before it is implanted.

• #2 Angelman Syndrome: New In Utero Candidate Therapy Revealed – BioTechniques

  https://www.biotechniques.com/molecular-biology/angelman-syndrome-novel-in-utero-therapeutic-candidate-promotes-less-invasive-amniotic-delivery/

  A recent mouse model study reveals that a novel in utero treatment for Angelman syndrome delivered through amniotic fluid is as effective as delivery via cerebrospinal fluid. […] Current treatments focus on the management of symptoms, using treatments such as anti-seizure medication and physical therapy, without addressing the root cause of the disease. […] A prenatal approach could help prevent the onset of irreversible organ damage and enable access to neurons during a period when the blood-brain barrier is more permeable. […] Both types of prenatal injections we tried, into the cerebrospinal fluid (IC injection) and the amniotic fluid (IA injection), allowed the therapy to penetrate deep regions of the brain that are critical areas to treat for Angelman Syndrome, said Maria Clark (UCSF), first author of the study. This is a big hurdle to overcome when treating genetic conditions of the nervous system.

• #2 News: A Single Cas9 Injection Could Mean a Lifetime of Treatment for Angelman Syndrome – CRISPR Medicine

  https://crisprmedicinenews.com/news/a-single-cas9-injection-could-mean-a-lifetime-of-treatment-for-angelman-syndrome/

  By contrast, a gene-editing therapy like the one Zylka developed could be a one-and-done shot, and if administered prenatally or early enough in childhood, a patient and their family would be able to reap the greatest therapeutic benefits. […] We can detect it [early] and have one single injection that can last the duration of the life of the child, says Zylka. […] It looks like the benefit is going to be the greatest if you do treatment as early as possible. […] Arthur Beaudet suggests that the future of Angelman medicine may not lie in treatment at all, but rather in earlier prenatal screening and a broader social acceptance for terminating pregnancies to try again. […] For them, he says, the new CRISPR-Cas9 treatment has the potential to be an incredible source for good.

• #2 Angelman Syndrome – Reasons, Signs, Treatment and FAQ’s

  https://parenting.firstcry.com/articles/angelman-syndrome-causes-symptoms-treatment-and-prevention/

  Angelman Syndrome is a genetic disorder, and there is no specific way to prevent it. Careful prenatal care could minimize the risk of genetic disorders as a precaution. If there is a family history or a child diagnosed with Angelman Syndrome, parents must consult a genetic counselor before planning for another child.

• #2 Angelman Syndrome: How late is too late for treatment? | eLife

  https://elifesciences.org/articles/86117

  An approach called antisense oligonucleotide (ASO) therapy has ushered in a new age in genetic medicine. […] Angelman syndrome is a neurodevelopmental disorder that is considered an ideal candidate for ASO therapy. […] Using ASO therapy to interfere with the antisense transcript and thus allowing the intact copy of UBE3A to be expressed is a promising approach for the treatment of Angelman syndrome. […] The findings of Lee et al. illustrate that it may be possible to treat some aspects of Angelman syndrome after birth, and even into adulthood, using ASO therapeutics. This challenges the current view of what symptoms of Angelman syndrome are treatable, and at what age. […] These results indicate that the therapeutic window of genetic therapies for Angelman syndrome is broader than previously thought, and EEG power spectrum and sleep architecture should be used to evaluate the clinical efficacy of therapies.

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