Angelman Syndrome News and Research

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Genetic test streamlines diagnosis of rare developmental disorders

A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save the NHS vital resources.

28 Mar 2024

UCSF scientists discover less invasive prenatal treatment for Angelman syndrome

In a discovery that opens the door to a less invasive way of treating some serious disorders before birth, UC San Francisco scientists have found that delivering medicine through amniotic fluid is as effective as delivering it to the fetal brain via cerebrospinal fluid.

4 Mar 2024

New molecule is one step closer to becoming a treatment for Phelan-McDermid syndrome

A molecule created at the University of Auckland is one step closer to becoming a treatment for an extremely rare and severely debilitating neurological disorder called Phelan-McDermid syndrome.

2 Feb 2024

Cannabis use alters DNA methylation, with implications beyond smoking effects

A large-scale meta-analysis in Molecular Psychiatry reveals that lifetime cannabis use is associated with DNA methylation changes in peripheral blood, which could have implications for understanding the long-term health effects of cannabis consumption.

8 Nov 2023

FAST joins with University of Pennsylvania to develop investigational AAV gene therapy for Angelman syndrome

The Foundation for Angelman Syndrome Therapeutics (FAST) announced today that the non-profit organization has entered into an exclusive global collaborative research and development agreement with the University of Pennsylvania to develop an investigational adeno-associated virus (AAV) gene therapy for Angelman syndrome (AS).

17 Oct 2023

NIH grant to fund development of new gene therapy platform for brain diseases

A two-phase NIH grant will fund research into a new CRISPR-based gene therapy platform that will target genetic brain diseases like Angelman syndrome and H1-4 (HIST1H1E) syndrome.

3 Oct 2023

Study reveals how a causal factor in Angelman syndrome eliminates neural chat

Researchers from the University of Tokyo reveal how the presynaptic Ube3a E3 ligase, a causal factor in Angelman syndrome, eliminates neural chat.

14 Sep 2023

COMBINEDBrain receives grant from the Chan Zuckerberg Initiative to accelerate research for rare neurological disorders

COMBINEDBrain's Founder and Director, Dr. Terry Jo Bichell, understands the power of collaboration. In her years as a neuroscientist, advocate, and rare patient parent, she has witnessed the field of neurodevelopment transform from a broad focus on autism or intellectual disability, to an era based on rare genetic disorders.

16 May 2023

COMBINEDBrain Biorepository: A comprehensive approach to speed research for rare diseases

COMBINEDBrain puts advocacy groups in the driver's seat in the race to cure rare neurodevelopmental diseases. Patient advocacy foundations representing more than thirty rare genetic neurodevelopmental disorders join forces as part of COMBINEDBrain to make it faster to do research on their disorders.

30 Mar 2022

$4 million program launched to find transformative therapies for ADNP syndrome

Researchers at the UC Davis MIND Institute are launching a $4 million program to find transformative therapies for ADNP syndrome. The rare genetic condition causes developmental delays and can affect the brain, heart, gastrointestinal system and more.

29 Mar 2022

Low-cost test could open new avenues for earlier diagnosis, treatment of rare genetic disorders

A newly developed test to screen for three rare genetic disorders simultaneously in newborns was feasible, reliable and scalable, according to a new study.

24 Jan 2022

Gene therapy strategy against Angelman syndrome shows early promise

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.

22 Oct 2021

New technology offers a faster, easier and more efficient way to study gene function

Studying the role genes play on basic biology and disease is now easier, faster and more efficient, say researchers at Baylor College of Medicine.

15 Sep 2021

RDM Positive Impact Foundation funds $1.25 million research project to study SYNGAP1

The RDM Positive Impact Foundation is funding an ambitious $1.25 million research project at the UC Davis MIND Institute to study SYNGAP1.

22 Jun 2021

The Marlene and Spencer Hays Foundation awards $68,000 grant to COMBINEDBrain

Established in 2019 in Nashville, COMBINEDBrain is a non-profit consortium of patient advocacy groups, researchers and clinicians working together to fast-track cures and therapies for individuals afflicted with rare genetic neurodevelopmental disorders.

13 Jan 2021

First biobank in Australia for chromosome 15 disorders

The first biobank in Australia aiming to improve research and treatments into rare genetic diseases caused by changes to genes on chromosome 15, including Prader-Willi Syndrome and Angelman Syndrome, will be established at the Murdoch Children's Research Institute.

5 Oct 2020

Advanced digital platform aims to improve outcomes for people with Angelman syndrome

An advanced open-source digital platform developed by QUT researchers is being used to build a patient registry aimed at improving outcomes and health service provision for children and adults around the world living with the rare disease Angelman syndrome.

3 Sep 2020

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

Today, PWSA (USA) announced its support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019, a bill to enable States to better provide access to whole genome sequencing clinical services for certain undiagnosed children under the Medicaid program, and for other purposes.

27 Sep 2019

New uses for CBD in genetic brain disorder

A new study has revealed that cannabidiol can help people with a rare brain condition called Angelman syndrome to improve their behavioral traits and to control seizures.

19 Sep 2019

Zylka lab receives NIH grant to advance treatments for neurodevelopmental disorders

The National Institutes of Health have awarded two separate grants totaling $6.1 million to Mark Zylka, PhD, director of the UNC Neuroscience Center. One of the grants was co-awarded to Ben Philpot, PhD, associate director of the center at the UNC School of Medicine.

18 Sep 2019