An interdisciplinary team has found a link between TBX2, a member of the T-box family of transcription factors, to a novel disorder that mainly affects the cardiac, skeletal, immune and endocrine systems.
Ari-1 is linked to human aortic anueurysms.
The Bellen lab has generated large library of versatile CRIMIC fly stocks.
Dr. Marco Sardiello's lab develops a new web tool called Aminode.
Disrupting Ataxin1-capicua complex alleviates SCA1 symptoms
Changes in PUM1 levels cause two distinct neurological syndromes
NRI researchers identify OTUD7A as the gene responsible for 15q13.3 microdeletion syndrome, a complex neurological condition.
Researchers in the laboratory of Dr. Juan Botas, investigator at the Jan and Dan Duncan Neurological Research Institute and professor at Baylor College of Medicine, are among the team of NIH scientists and collaborators who have uncovered a potential new strategy to treat Huntington's disease.
A study from the Dr. Hugo's Bellen lab shows how alpha-ketoglutarate, produced by mitochondria, the energy generators of the cell, plays an unexpected role in the regulation of neurotransmission linking mitochondrial dysfunction and neuronal disorders.
In this study, Dr. Tiemo's team have found a novel way to reduce a particular type of medulloblastoma, the most common malignant brain tumors in children. This promising discovery could act as adjunct therapy to increase remission rates and cancer-free survival among the patients of sonic hegdehig-type medulloblastoma patients.
A recent paper from Dr. Christian Schaaf's lab finds how too much or too little CHRNA7 can lead to neuropsychiatric disorders.
Dr. Joshua Shulman's team finds that a group of genes involved in childhood lysosomal storage disorders are also affected in Parkinsons' patients.
Physicians determine a unique treatment plan for an ataxia patient carrying a novel, toxic, "gain-of function" mutation in a calcium channel gene. This exciting discovery could potentially become a standard paradigm for treating such patients in the future.
Researchers have discovered that impairing a critical partnership between brain cells can lead to neurodegeneration.
Dr. Benjamin Deneen and colleagues have identified novel regulatory DNA loop structures that could be promising targets for gliomas.
An exciting study published in Science Translational Medicine from the laboratory of Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Institute (NRI) at Texas Children’s Hospital, and professor at Baylor College of Medicine, describes the discovery of new ‘druggable’ modulators of methyl-CpG-binding protein 2 (MeCP2), a key neuronal protein.
NRI scientists have developed a new bioinformatics tool to easily analyze and collate CRISPR sequencing data.
Researchers have developed a novel Lunatic fringe (Lfng) reporter and lineage tracing mouse model that selectively labels primary NSCs. Using these mice, researchers have found a novel mechanism by which descendants of NSCs are able to send feedback signals to alter the division and the fate of the mother cell.
Researchers in the laboratory of Dr. Marco Sardiello have identified a pharmacologically actionable target for juvenile Batten disease, a rare but fatal pediatric neurodegenerative disorder. The study was published in Nature Communications. Juvenile Batten disease is the most common form of neurodegeneration in young children.
A team of scientists from many institutions, including the NRI, have recently published a paper in the journal PLoS Genetics that links alterations in sugar metabolism to Zellweger syndrome, a rare life-threatening genetic disorder. Zellweger syndrome/Peroxisomal biogenesis disorder results from defects in genes that synthesize peroxisomes, essential components of the cell that help to form and breakdown certain lipids.