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Research Breakthroughs

Ceramide accumulation and defective iron metabolism are found to be the causes of MEPAN syndrome

A recent study published in Nature Metabolism has revealed the pathogenic mechanism underlying a rare pediatric neurodegenerative disorder known as

Duncan NRI scientists develop a new fly model to probe an epileptic brain disorder

Developmental and epileptic encephalopathy (DEE) refers to a group of neurodevelopmental conditions characterized by developmental delay, cognitive impairment, and seizures in children. In 2016, the first case linking variants in both the copies of UBA5 gene to DEE44 was reported. Since then, twelve distinct missense variants in the UBA5 gene have been identified in 25 patients.

A new pathway to regenerate myelin discovered

A study led by Dr. Hyun Kyoung Lee, associate professor at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, has discovered a new biological mechanism to regenerate and repair myelin, a protective sheath that insulates neuronal fibers and plays a vital role in ensuring rapid and accurate neurotransmission.

A new study reveals the cerebellum as a source of generalized convulsive seizures

Recurrent seizures are debilitating and can sometimes, be fatal. The onset and presentation of seizures vary significantly among epilepsy patients. Of more than 25 categories of seizure presentations within epilepsy, those with motor convulsions are perhaps the most disruptive and generally most feared among patients and caregivers. Unfortunately, convulsive seizures are also the most commonly occurring type of generalized seizures.

Studying rare diseases can help many

Increasingly, model organisms such as fruit flies and worms are being used to find the correct diagnosis and to develop new therapies for patients with rare diseases

Scientists generate a new Drosophila toolkit to understand how SARS-CoV-2 virus impacts human health

The COVID-19 pandemic has caused catastrophic damage to public health and economies all over the world for nearly four years. While the pandemic is under control now, the SARS-CoV-2 virus continues to mutate and inflict unprecedented suffering for millions in the form of myriad lingering symptoms that are collectively termed ‘long-COVID’.

A protein implicated in Batten disease is critical for generating new lysosomes

Neuronal Ceroid Lipofuscinosis are a group of devastating neurodegenerative lysosomal storage disorders that begin in childhood. Mutations in CLN3 gene lead to a NCL called Batten disease, characterized by the progressive loss of vision, movement, and cognition. Targeted effective therapies are not available for these disorders since the biological roles of most genes responsible for these disorders are not well defined.

Long-range neuronal connections drive glioblastoma invasion

Glioblastoma (GBM) is the most aggressive and lethal form of brain tumor. Despite treatment, GBM recurrence is inevitable and tends to occur outside surgical margins or in locations remote to the primary tumor, highlighting the central role played by tumor infiltration in this malicious disease.

Atoh1 is Critical to Establish the Diversity of Pontine Nuclei Neurons

A recent study published in Science Advances by researchers at Baylor College of Medicine and Texas Children’s Hospital has discovered six distinct neuronal lineages in the pons region of the brainstem and revealed new insights into their differential vulnerability to the partial loss of Atoh1, a gene crucial for the development of pontine neurons.

Astrocyte processing of serotonin regulates olfactory perception

To enjoy the scent of morning coffee and freshly baked cookies or to perceive the warning smell of something burning, the brain needs two types of cells, neurons and astrocytes, to work closely with each other. Research has shown a great deal of the changes that occur in neurons during olfactory, or smell, perception, but what are the astrocyte responses and how they contribute to the sensory experience remains unclear.

A new way to visualize force-sensing neurons

A recent study by researchers at Texas Children’s Hospital, Baylor College of Medicine, and Scripps Research Institute has discovered fluorescent dye FM 1-43 as an effective and versatile tool to visualize PIEZO2 ion channel activity in mechanosensory neurons.

Researchers find a way to reduce the side effects of deep brain stimulation

Deep brain stimulation (DBS) has emerged as an effective therapy for severe, treatment-resistant obsessive-compulsive disorder (trOCD) and has received approval under a humanitarian device exemption from the U.S. FDA. However, there are adverse side effects associated with this procedure.

An innovative machine-learning program reveals genes responsible for sex-specific differences in Alzheimer's disease symptoms

Alzheimer's Disease (AD) is a complex neurodegenerative illness with genetic and environmental origins. Females experience faster cognitive decline and cerebral atrophy than males, while males have greater mortality rates.

Distinct types of cerebellar neurons control motor and social behaviors

The cerebellum, a major part of the hindbrain in all vertebrates, is important for motor coordination, language acquisition, and regulating social and emotional behaviors.

Variants of MRTFB gene linked to novel neurodevelopmental disorder

Researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital have linked specific variants or mutations of the gene myocardin-related transcription factor B (MRTFB) with a novel neurodevelopmental disorder.

Neurons lead the way in the development of astrocytes

Astrocytes play diverse roles that are vital for proper brain function. For instance, they support the activity of other essential brain cells, neurons; participate in the formation and function of synapses, essential neuron-to-neuron connections; release neurotransmitters, chemicals that mediate neuronal communication; and make the blood-brain barrier.

Openseize: a novel open-source software to analyze large-scale digital signals

Electroencephalography (EEG) is an indispensable tool used by clinicians to diagnose neurological diseases and by researchers to study and discover brain circuit mechanisms that support sensory, mnemonic, and cognitive processing. A new software - Openseize - created by Dr.

Study reveals a novel biomarker and a potentially improved therapy for Multiple Sclerosis and related neurodegenerative disorders

New research finds sphingosine 1-Phosphate produced by the degradation of myelin results in neuroinflammation and drugs that reduce its level can reverse pathologies in animal models of MS.

Texas Children’s and Baylor College researchers use innovative dual-target deep brain stimulation approach to treat patients with obsessive-compulsive disorder and Tourette Syndrome

Up to two-thirds of patients with Tourette syndrome (TS), a tic disorder characterized by sudden uncontrollable physical movements, also suffer from obsessive-compulsive disorder (OCD), a psychiatric condition characterized by intrusive thoughts and repetitive behaviors.

Imaging brain connections can predict improvements in obsessive-compulsive disorder patients after deep brain stimulation

Deep brain stimulation (DBS) is a promising therapy for treatment-resistant obsessive-compulsive disorder (OCD). A first-of-its-kind collaborative study led by researchers at Texas Children’s Hospital, Baylor College of Medicine, and Brigham & Women’s Hospital has found that mapping neural connections in the brains of OCD patients offers key insights that explain the observed improvements in their clinical outcomes after DBS.