Angelman Syndrome News and Research

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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

Cannabidiol may alleviate seizures and normalize brain rhythms in Angelman syndrome

A marijuana plant extract, also known as cannabidiol, is being commonly used to improve anxiety, sleep problems, pain, and many other neurological conditions.

18 Sep 2019

Researchers use genomics to solve a 20-year case study

After 20 years, a patient's family received an answer to a decades-long genetic mystery. Their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after researchers found out she had uniparental disomy, two copies of chromosome 15 from one parent and none from another.

28 Apr 2019

Genetic therapy may help children with Angelman syndrome to overcome seizures

Angelman syndrome is a genetic disease with no cure. Children grow up with severe intellectual disabilities and a range of other problems, arguably the worst of which are epileptic seizures. Now scientists at the UNC School of Medicine have found evidence that genetic therapy may prevent the enhanced seizure susceptibility.

21 Nov 2018

Rush University Medical Center opens Angelman Syndrome Clinic

Rush University Medical Center and the Angelman Syndrome Foundation, a national nonprofit organization headquartered in Aurora, Ill., announced the official opening of the Angelman Syndrome Clinic at Rush Children's Hospital.

23 Aug 2018

Role of UBE3A enzyme in Angelman syndrome

The group, led by the Ikerbasque professor Ugo Mayor of the UPV/EHU's Department of Biochemistry and Molecular Biology, has just published in the journal Human Molecular Genetics an explanation of the mechanisms affected by Angelman syndrome.

20 Apr 2018

Researchers discover ‘recycled’ genes in mammalian genome

One often hears about the multitude of genes we have in common with chimps, birds or other living creatures, but such comparisons are sometimes misleading. The shared percentage usually refers only to genes that encode instructions for making proteins -- while overlooking regulatory genes, which nonetheless make up a large part of the genome.

18 Sep 2017

Pharmaceutical giant Roche funds concept study aiming to find cure for Angelman syndrome

A collaborative group of parent-driven organizations seeking a cure for Angelman syndrome has teamed up with F. Hoffmann-La Roche Ltd, one of the world’s largest pharmaceutical and diagnostics companies, in the first phase of a study that will support the design of human clinical trials and treatment development for the disorder.

28 Jun 2017