Skip to main content
  • Research

Research Breakthroughs

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.

Tau-mediated RNA splicing errors linked to Alzheimer’s

Researchers in Shulman and Liu labs show tau-mediated aggregates sequesters core components of the spliceosome complex leading to dgeneration and loss of neurons in the brains of Alzheimer's patients.

Meningioma molecular profile can predict tumor recurrence

New study shows molecular profiling can predict the recurrence of meningiomas better than current histopathological calssifications.

Loss of ataxin-1 gene linked to Alzheimer’s disease risk

A Cell paper published from the Zoghbi and Tanzi labs shows loss of ataxin-1 gene, which is known to cause the rare neurodegenerative disease called spinocerebellar ataxia type 1 (SCA1), function can increase the risk of Alzheimer’s disease in a mouse model of the condition.

Gene linked to Alzheimer's disease is involved in neuronal communication

Shulman et al. identify the mechanism by which mutations in CD2AP/cindr increases susceptibility to Alzheimer's disease.

Collaborative research initiative reveals a novel neurological syndrome

UDN links WDR37 gene to a novel neurological syndrome.