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Research Breakthroughs

Drs. Daniel Calame, Hsiao-Tuan Chao and team find a molecular cause for PMD patients without any mutations in PLP1 gene.

Lichtarge and Botas labs use a novel methodology to find 216 novel genetic modifiers of late-onset Alzheimer's disease.

The Swann lab discovers the source and mechanism of epileptic spasms.

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

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.

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

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.

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

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

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

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.

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

Bellen lab in collaboration with the UDN find 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.

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.

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.

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

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

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.

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.