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Research Breakthroughs

BICRA gene provides answers to patients, doctors and scientists

Research from Bellen lab finds chromatin remodeling protein BICRA and the ncBAF complex function in neural development in humans and flies.

Low doses of insecticide trigger neurodegeneration in insects

The Bellen lab in collaboration with Dr. Felipe Martelli's team in Melbourne explore the effects of low doses of insecticide, imidacloprid, on the physiology of fruit flies.

Regulating gene regulatory regions offers a novel mechanism to control ATXN1 levels

Researchers in the Zoghbi lab investigate the mechanisms involved in Ataxin-1 expression.

Novel regulators of myelin repair and regeneration discovered

Researchers in Dr. HYun-Kyoung Lee identify a new regulator (Nedd4) and genetic pathway (Daam2-VHL-Nedd4) that controls myelin formation during development and after injury.

Dissecting the genetics of neurodevelopmental disorders – one cell at a time

The Liu lab reveals genetic convergences between autism spectrum disorder and epilepsy during key neurodevelopmental stages.

Solving the CLN6 mystery in Batten's disease

Sardiello lab discovers how defective CLN6 can lead to Batten's disease.

Unraveling a novel role for TFEB in liver development, regeneration and biliary cancer

Researchers in Drs. Ballabio and Pastore labs' identify a novel developmental role for transcription factor, TFEB in liver development and regeneration.

Research reveals a new way to predict genetic diseases

Wangler lab finds genes with more CpG in the first and second codons have a higher propensity to get mutated and so, can be used as good predictors of disease risk.

An international collaboration discovers novel neurodevelopmental syndrome

UDN researchers led by Dr. Bellen identify a new Cdk19-mediated neurodevelopmental disorder.

Solving the puzzle of Mitchell disease

Bellen lab in collaboration with the UDN find a new neurological disorder.

Inappropriate cellular response to stress linked to a new neurological disorder

Chao and Bellen labs finds pathogenic variants in the EIF2Ak family of kinases associated with a novel neurodevelopmental disorder with degenerative features.

Researchers learn to control brain cell that triggers tremor

Latest research from Dr. Roy Sillitoe's laboratory has made strides understanding of how tremor — the most common movement disorder — happens, opening the possibility of novel therapies for this condition.

New insight on ACOX1-related neurodegenerative disorders

A study from the Bellen lab in Neuron uncovers a novel neurological disorder that is caused due to hyperactive ACOX1 and finds ways to treat this and other ACOX1-related disorder.

Xue lab develops animal models for STXBP1 encephalopathy

A study from Xue lab develops new tools to advance research in STXBP1 encephalopathy.

Fruit fly screen uncovers genes regulating peroxisomal disorders

A study from Wangler lab identifies 18 genes that regulate peroxisomes and may be invovled in peroxisomal disorders.

Link between herpes virus infections, Alzheimer’s refuted

A study published in Neuron from Dr. Zhandong Liu's lab provides statistical evidence that refutes the link between increased levels of herpes virus infections and Alzheimer's disease. Moreover, the study provides a framework and guidelines for big data analysis.

ACTG2 variants discovered as a reliable diagnostic marker and prognostic tool for visceral myopathy

A study from the Wangler lab published in Human Mutation identifies ACTG2 gene as the primary determinant of severe symptoms and worse long-term prognosis in majority of patients with visceral myopathy.

Loss of OXR1 causes lysosomal dysfunction and a novel neurodevelopmental disorder

A collaborative study identifies a new neurodevelopmental syndrome due to the lysosomal dysfunction in the absence of OXR1.

Study reveals how maternal Zika virus infection results in microcephaly among newborns

Bellen lab discover that a Zika virus protein (NS4A) disrupts brain growth by hijacking the ANKLE2 and VRK1 -mediated neurogenesis pathway, which opens up the exciting possibility of developing VRK1 kinase inhibitors as therapeutic targets for microcephaly, particularly for congenital Zika syndrome.

Researchers discover new intellectual disability syndrome

A collaborative study from the Bellen lab finds mutations in IQSEC1 resposible for a new intellectual disability syndrome.