Solving the CLN6 mystery in Batten's disease6/30/20
Sardiello lab discovers how defective CLN6 can lead to Batten's disease.
Unraveling a novel role for TFEB in liver development, regeneration and biliary cancer6/17/20
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 diseases5/18/20
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 syndrome4/23/20
UDN researchers led by Dr. Bellen identify a new Cdk19-mediated neurodevelopmental disorder.
Solving the puzzle of Mitchell disease4/8/20
Bellen lab in collaboration with the UDN find a new neurological disorder.
Inappropriate cellular response to stress linked to a new neurological disorder3/24/20
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 tremor3/18/20
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 disorders3/12/20
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 encephalopathy2/19/20
A study from Xue lab develops new tools to advance research in STXBP1 encephalopathy.
Fruit fly screen uncovers genes regulating peroxisomal disorders1/16/20
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 refuted1/7/20
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 myopathy1/7/20
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 disorder11/28/19
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 newborns11/14/19
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 syndrome10/10/19
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’s10/9/19
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 recurrence10/8/19
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 risk8/23/19
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 communication8/14/19
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 syndrome7/19/19
UDN links WDR37 gene to a novel neurological syndrome.