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.
Researchers at the NRI have created a very useful open-access, user-friendly web resource, MARRVEL (Model Organism Aggregated Resource for Rare Variant ExpLoration) that will help biomedical researchers speed up their pace of scientific discovery.
A team of researchers headed by Dr. Ignatia Van den Veyver have shown that mutations in an early embryonic development gene may provide some clue to unexplained female infertility and recurrent pregnancy loss. The study was published in Scientific Reports, a member of the Nature family of journals.
Researchers at the NRI have identified a novel role for ABL1, a known tumorigenic gene, in a new developmental disorder. The study was published in the journal, Nature Genetics journal and was led by Drs. Christian Schaaf, Yaping Yang and Xia Wang, faculty at the Baylor College of Medicine.
A collaborative study spearheaded by Dr. Huda Zoghbi shows that loss of Ataxin1-Capicua (ATXN1-CIC) complex causes a previously unidentified neurodevelopmental disorder in mice and humans. This discovery, published in Nature Genetics, perfectly illustrates how meticulous studies in animal models can lead to serendipitous discovery of new syndromes, which helps patients and their families to receive accurate diagnosis and more importantly, gives them hope for possible future treatments.
In a review published in the journal Disease Models & Mechanisms, Drs. Joshua Shulman and Michael Wangler argue that fruit flies are one of the best biological tools to decipher complex genetic disorders. The authors urge for closer dialogue and collaborations between human geneticists, who typically lead GWAS studies, and basic fly biologists who are expert in the dissection of genetic mechanisms.
A large collaborative study led by Dr. Joshua Shulman and Dr. Peter Heutink has revealed five strong candidate genes for Parkinson’s disease. In this one-of-a-kind study sponsored by the International Parkinson’s Disease Genomics Consortium (IPDGC), researchers performed whole-exome sequencing and functional analysis of 1148 unrelated Parkinson’s disease cases, the largest such cohort examined to date, and compared their results with 503 control participants of European ancestry.
A team of researchers in the laboratory of Dr. Ignatia Van den Veyver found that adult male offspring of female mice that were fed chronic low-protein diet are sluggish, with increased body fat and anxiety-like behaviors even though they were on a normal diet since weaning. The results of this study were published in the online journal PLoS One.
A ground-breaking study conducted in the lab of Dr. Hugo J. Bellen has now identified a novel signaling mechanism that allows for accumulation of LDs in glial cells causing neurodegeneration. Specifically, they found that dysfunction of neuronal mitochondria (cellular energy generator) cause excess lipids to accumulate in the neighboring glial cells (support cells) in fruit flies and mice.
For the first time, in a study published in Nature Neuroscience, researchers in the laboratory of Dr. Benjamin Arenkiel have demonstrated how inhibitory circuits form and develop in live brains. They made a surprising discovery that inhibitory circuits expand as they mature. Prior to this study, scientists had very little understanding of how sensory maps of inhibitory circuits develop or mature.
An international team led by Dr. Hugo J. Bellen, professor at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital has identified a novel function for nardilysin, a mitochondrial protein, in the progressive degeneration of neurons. The study published in Neuron has utilized a relatively new multi-species genomics approach to provide a compelling genetic link between NRD1 and age-related neurodegeneration.
A study published in the journal eLife by Dr. Hugo J. Bellen’s team shows that loss of frataxin protein may cause neurodegeneration by accumulation of excess iron in mice and humans. In this study, the Bellen team led by graduate student Kuchuan Chen found that deletion of FXN in mice is similarly deleterious and leads to neurobehavioral defects. This study shows for the first time that loss of Fxn can lead to an accumulation of iron within the neuronal cell bodies and extracellular spaces of vertebrate brains.