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Research Breakthroughs

Variants in PPFIA3, a synaptic scaffolding protein, discovered to be the cause of a newly recognized syndromic neurodevelopmental disorder.

1/4/24
An international collaborative study led by postdoctoral scientist, Dr. Maimuna Paul, and child neurologist, Dr.

How neurotransmitters work together to detect and distinguish odors

11/27/23
A longstanding hypothesis in neurobiology was that a single neuron releases a single type of neurotransmitter, a molecule used by neurons to communicate with one another. In recent decades, several neurons have been found to release more than one neurotransmitter. This phenomenon called co-transmission is increasingly gaining recognition as a powerful and versatile molecular mechanism useful for the dynamic regulation of diverse neural circuits.

A new biomarker can better predict clinical outcomes after radiation for meningiomas

11/13/23
A recent multi-institutional collaboration has led to the development of a new way to predict response to radiation for meningioma patients. Meningiomas are tumors that arise in the membranes surrounding the brain and the spinal cord and are the most common type of tumor originating in the brain.

Novel Rett syndrome variant shines light on new screening strategies for therapies

10/27/23
A novel MECP2 gene variant (G118E) was recently characterized by a research team led by Dr. Huda Zoghbi and Dr. Robert Tjian. Using sophisticated high-resolution, single-molecule imaging techniques, the team revealed with great molecular precision how the G118E mutation affects the dynamics of MeCP2 protein-DNA interactions. The study lays the foundation for the next frontier of innovative human disease discovery research and shines a light on new screening strategies to develop potential therapies for Rett syndrome.

Deep brain stimulation induces more healthy neurons and sustained memory benefits in Rett animals

10/13/23
A recent study from the lab of Dr. Jianrong Tang, associate professor at Baylor College of Medicine and principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital shows that deep brain stimulation (DBS) of a specific brain region results in a significant and sustained improvement of memory in Rett mice.

DOT1L gene variants associated with a new neurological disorder

10/13/23
A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital, has discovered that gain-of-function variants in the DOT1L gene cause a new disorder.

PARMESAN: An AI-based predictive tool to find new treatments for genetic disorders

9/25/23
To discover new treatments for genetic disorders, scientists need a thorough knowledge of prior literature to determine the best gene/protein targets and the most promising drugs to test. However, biomedical literature is growing at an explosive rate and often contains conflicting information, making it increasingly time-consuming for researchers to conduct a complete and thorough review.  

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

8/31/23
A recent study published in Nature Metabolism by the Bellen lab has revealed the pathogenic mechanism underlying a rare pediatric neurodegenerative disorder known as mitochondrial enoyl reductase protein-associated neurodegeneration (MEPAN) syndrome.

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

8/25/23
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

8/24/23
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

8/1/23
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

7/31/23
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

7/21/23
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

7/6/23
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

7/3/23
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

7/3/23
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

6/16/23
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

6/14/23
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

5/22/23
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

5/19/23
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.