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Research Breakthroughs

New proteins involved in Spinocerebellar Ataxia provide insight into selective neuronal vulnerability


Neurodegenerative disorders like Alzheimer’s and Parkinson’s disease result from the loss of specific types of neurons due to abnormal accumulation of mutant proteins. Although specific brain regions have been found to be particularly vulnerable in each of these disorders, intriguingly, the disease-driving genes and the proteins they encode are usually broadly expressed and are known to function throughout the brain.

New tau regulators and therapeutic targets for neurodegenerative disorders discovered


Neurodegenerative diseases affect millions of people worldwide and as our life expectancy increases, more individuals are expected to be affected in the coming decades. Tauopathies such as Alzheimer’s disease are a class of neurodegenerative disorders involving a pathological accumulation of tau proteins which eventually results in massive loss of brain cells.

A new neurodevelopmental epilepsy disorder and its genetic cause discovered


Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) are NDD characterized by epilepsy and delayed development or loss of developmental skills. Although the prevalence of DEEs remains to be determined, studies estimate that single-gene epilepsies occur in around 1 in 2100 births annually.

Oxytocin drives development of neural connections in adult-born neurons


Learning a new task, mastering a musical instrument or being able to adapt to the constantly changing environment are all possible thanks to the brain’s plasticity, or its ability to modify itself by rearranging existing neural networks and forming new ones to acquire new functional properties. This also helps neural circuits to remain healthy, robust and stable.

A novel instructive role for the entorhinal cortex discovered

The study reveals an extraordinary and an unprecedented mechanism for synaptic plasticity.

An animal model of West syndrome exhibits a progressive increase in epileptic spasms and learning and memory deficits

The Swann lab provides the first demonstration of a progressive increase in seizure duration along with a decline in learning and memory in the tetrodotoxin-induced model of infantile spasm.

Spontaneously arising variants in FRMD5 gene are associated with a novel neurological disease

Researchers in the Bellen lab discover a new neurological disorder.

Researchers discover 50 novel Parkinson's disease candidate genes using an innovative multilayered approach

Jianyang Li and others in the Botas lab use an integrated functional genomics approach to find 50 new genes involved in Parkinson's disease.

Disruption of MTSS2 function causes a new syndromic intellectual disability

The Bellen lab discovers that a spontaneous mutation in MTSS2 gene is the underlying cause of a new syndromic intellectual disability.

A comprehensive clinical study confirms the molecular link between microcephaly caused by Zika and ANKLE2 variants

In a first-of-its-kind study, an international team of researchers report a comprehensive phenotypic and genotypic analysis of the largest cohort to date of patients with ANKLE2 gene variants, which were identified a few years ago as the cause of microcephaly (‘abnormally small head’) in infants.

Duncan NRI team develops an award-winning new computational tool to study movement disorders

The Duncan NRI team plan to use the Poly(A)Miner-Bulk tool to create a signature APA pattern for XDP, which can then be used to develop specific and effective diagnostic and treatment options for XDP patients. They are hopeful that if successful, this strategy can then be replicated for those with Parkinson’s disease and different forms of dystonia. 

Researchers discover novel light-gated potassium channel

The Xue lab and collaborators find a new class of light-gated channels that promise to pave the way for rapid and efficient optical neuronal silencing.  

Disruptions in brain sphingolipid metabolism reveal new insights into cause of Gaucher disease

A study by Bellen lab researchers is the first to associate neuronal activity to the levels of sphingolipids, a type of fat, in brain cells.

A pioneering study discovers an underlying cause for infantile spasms and points to a novel therapy

An exciting new study by Dr. Carlos Ballester-Rosado and others in the Swann lab finds an underlying cause and a potential new therapy for infantile spasms.

Texas Children’s Hospital and Baylor College of Medicine study opens the door to improved diagnosis, prognosis and potential therapies for EBF3 and other neurodevelopmental disorders

Dr. Chao and her team have discovered that patients with EBF3 gene variants affecting a critical region — zinc finger domain (ZNF) of the encoded transcription factor protein — suffer from a more severe subtype of EBF3-related neurodevelopmental disorders and other autism spectrum disorders.

Oleic acid, a key to activating the brain’s ‘fountain of youth’

Many people dread experiencing the cognitive and mood declines that often accompany reaching an advanced age, including memory disorders such as Alzheimer’s...

Fruit fly study uncovers functional significance of gene mutations associated with autism

In this exciting study, Drs. Yamamotoand Wangler discover a new insight about autism spectrum disorders that it may not be one disorder involving many genes., but may actually be hundreds of genetic disorders.

Reduced inhibition of hippocampal neurons impairs long-term memory recall in Rett syndrome

In this exciting study, the Zoghbi lab find the cause and how to improve poor memory recall in Rett mice.

An atypical case underscores the importance of ‘silent’ synonymous genetic changes

Chao lab study an unusual clinical case of NMIHBA case provides insights into this rare disease.

Loss of TIAM1 protein leads to a novel neurodevelopmental disorder

Bellen lab finds a new neurological disorder.