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Research Breakthroughs

A novel neurological disorder associated with the Polycomb complex identified

A UDN study led by NRI-investigator, Dr. Shinya Yamamoto at and Dr. Vandana Shashi at Duke University Medical Center has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder.

Downregulating glial genes involved in synapse function protects from Huntington's disease

The study highlights the critical and often overlooked roles played by glial cells in protecting from neuronal loss under neurodegenerative conditions.

POT1 gene mutation predisposes to glioma and affects survival in a sex-specific manner

Researchers in the Deneen lab discover female mice with glioma that lacked the POT1 gene survived less than males.

Novel guidelines help select optimal deconvolution method

Liu lab devises guidelines to help scientists find the deconvolution method that best fits their analytical needs.

Maletic-Savatic lab discovers a novel marker of adult human neural stem cells

Study finds BASP-1 as a novel biomarker of adult human neural stem cells.

Researchers identify DNA elements that affect MECP2 expression

Researchers in the Zoghbi lab find DNA regions critical for MECP2 function, identifying potential therapeutic targets for Rett and MECP2 Duplication syndrome.

A preclinical study validates antisense oligonucleotides as a feasible approach to treat MECP2 duplication disorder

A novel "humanized" mouse model generated validates the use of antisense oligonucleotides to reverse the symptoms of MECP2 Duplication Syndrome.

Deep brain stimulation and exercise restore movement in ataxia

Sillitoe lab finds deep brain stimulation of the cerebellum and exercise can reverse ataxia

Acthar® Gel (RCI) suppresses spasms in the TTX animal model of infantile spasms

Study finds high dosages of RCI were required to eliminate spasms and hypsarrhythmia-like activity in rodents.

EIF2AK2 variants cause symptoms akin to Pelizaeus-Merzbacher disease

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

Novel gene variants that modify the risk of late-onset Alzheimer’s disease discovered

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

A role for the slow oscillations of the neocortex in epileptic spasm generation

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

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.