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Research Breakthroughs

Xue lab develops a better optogenetic tool to study neuronal function

Xue lab develops a better optogenetic tool to study neurons.

Fruit flies help uncover a role for IRF2BPL in a new rare neurological disorder

The UDN team reports spontaneously arising mutations in a single copy of the IRF2BPL gene are associated with a previously undiagnosed neurological disorder in seven unrelated individuals.

A new integrative approach finds viable therapeutic targets for Huntington's disease

A team of scientists led by Dr. Juan Botas, professor at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute have developed a way to sort through the thousands of genetic alterations that accumulate in human brains affected by neurological disease.

A simple sugar delays neurodegeneration in lysosomal storage disorders

A new study from the laboratory of Dr. Marco Sardiello, assistant professor in Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, has found oral administration of trehalose, a simple sugar, can resolve the neurological symptoms associated with the deficiency of a lysosomal enzyme.

Ceramides may play a role in early-onset Parkinson’s disease

The researchers in the laboratory of Dr. Hugo Bellen, professor at Baylor College of Medicine and an investigator at the Howard Hughes Medical Institute and at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, have found ceramides, a family of lipid molecules found within cell membranes, play an important role in an early-onset form of Parkinson’s disease. The study was published in the journal Cell Metabolism.

Tau aggregates activate “jumping genes” in Alzheimer’s disease

A recent study published in Cell Reports has found a novel mechanism by which Tau protein aggregates might contribute to neurodegeneration.

Fruit fly study links TBX2 to a novel Mendelian disorder

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.

Fruit fly study identifies a new link to aortic aneurysms

Ari-1 is linked to human aortic anueurysms.

“CRIMIC”: A versatile genetic tool to accelerate biomedical discovery

The Bellen lab has generated large library of versatile CRIMIC fly stocks.

Sardiello lab develops a new tool to speed up biomedical discovery

Dr. Marco Sardiello's lab develops a new web tool called Aminode.

Research reveals mechanism that drives ataxia type 1

Disrupting Ataxin1-capicua complex alleviates SCA1 symptoms

Changes in Pumilio1 levels linked to distinct neurological disorders

Changes in PUM1 levels cause two distinct neurological syndromes

NRI researchers identify the gene largely accounting for a complex neurological condition

NRI researchers identify OTUD7A as the gene responsible for 15q13.3 microdeletion syndrome, a complex neurological condition.

A new strategy to fight Huntington's disease

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.

Mitochondrial metabolite linked to regulation of neurotransmission

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.

NRI researchers identify a promising drug target for childhood brain tumors

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.

How having too much or too little of CHRNA7 can lead to neuropsychiatric disorders

A recent paper from Dr. Christian Schaaf's lab finds how too much or too little CHRNA7 can lead to neuropsychiatric disorders.

Defects in the neuronal ‘waste disposal system’ linked to Parkinson’s disease

Dr. Joshua Shulman's team finds that a group of genes involved in childhood lysosomal storage disorders are also affected in Parkinsons' patients.

Studies on a young ataxia patient could guide treatment for a novel condition

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.

Breakdown of brain cells’ metabolic collaboration linked to Alzheimer’s disease

Researchers have discovered that impairing a critical partnership between brain cells can lead to neurodegeneration.