The Louisa Gross Horwitz Prize recognizes Dr. Huda Zoghbi and Dr. Adrian Bird for their groundbreaking work on epigenetic regulation in the nervous system. Their discoveries have led to new treatments for Rett syndrome, a severe neurodevelopmental disorder that affects girls and has previously been considered untreatable.
New evidence explains why certain parts of the brain are more vulnerable to neurodegenerative diseases. The study suggests that directing therapies to specific protein forms can lead to improved treatment outcomes. Researchers found that subtle differences in protein abundance and complexes assemble determine regional vulnerability.
Researchers at Texas Children's Hospital have uncovered a novel biological pathway that can lead to seizures when disrupted. This finding provides a new approach for improving genetic diagnosis and treatment for epilepsy cases with unknown origins. The study also reveals that specific combinations of defective genes can cause seizures,...
Dr. Rui Yang receives a Burroughs Wellcome Fund Career Award for Medical Scientists to uncover genetic causes of life-threatening immune disorders and identify new treatment paths. The research aims to advance diagnosis and understanding of rare diseases while fostering the next generation of scientists.
A new multicenter study suggests a novel, electronic health record–based marker can help clinicians identify transplant patients at high-risk for organ rejection due to non-adherence. The Medication Level Variability Index (MLVI) was used to flag adolescents and young adults at elevated risk following liver transplantation.
Baylor College of Medicine researcher Dr. Jimmy Holder and his team will join the ARIA IMPACT Network to accelerate clinical trial readiness and implementation for promising therapies on autism. The collaboration aims to better understand how autism develops and changes over time in children with profound autism.
Researchers at Texas Children's Hospital identified a set of dysfunctional genes and specific cell types that are vulnerable to genetic changes in female mice modeling Rett syndrome before symptoms appear. They found that even healthy cells with normal MECP2 gene had changes in gene activity due to neighboring defective cells.
Researchers describe a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The disorder presents with early onset respiratory distress, lung abnormalities, and developmental delay but no epilepsy.
Researchers will use DNA-encoded chemical libraries and artificial intelligence to screen hundreds of millions of potential drug compounds, identifying those most likely to succeed in treating Alzheimer's. The project aims to shorten the timeline for identifying new treatments, bringing them to patients faster and with greater precision.
Researchers have found that increasing mutant MeCP2 protein levels can improve symptoms in mice and cells from patients with Rett syndrome. The approach, which guides brain cells to skip a specific ingredient, has shown promise in treating the rare neurodevelopmental disorder.
The hospital achieved a 22-percent increase over its previous peak year, performing more pediatric liver and kidney transplants than any other in the nation. The team is also recognized as a leader in pediatric lung and heart transplantation, with exceptional post-transplant survival rates.
Researchers created a new tool using local ancestry inference (LAI) to provide more accurate insights into genetic differences. The tool reveals that many rare variants are common in specific ancestry segments, leading to more accurate diagnoses and reclassifications of genetic variants.
A three-year-old girl has been successfully treated with the first-ever FDA-approved gene therapy treatment for AADC deficiency, a rare inherited neurological disorder. The treatment, Kebilidi, is expected to take 2-6 months to show measurable impact and has already shown signs of increased energy and happiness.
The joint venture will unite the nation's largest comprehensive pediatric system with a top pediatric cancer program and the nation's leading comprehensive cancer center. The collaboration aims to accelerate improved outcomes for patients in Texas and around the world, increasing access to clinical trials and innovative treatments.
A unique neural signature, beta frequency activity in the anterior cingulate cortex, is associated with recognizing rewards and shaping future behaviors. This signature is altered in patients with depression.
A recent study identified a novel biomarker to predict clinical status in individuals with treatment-resistant OCD undergoing deep brain stimulation therapy. The biomarker targets pathological avoidance behaviors and has shown promising results in improving symptom management.
A recent study found that cerebellar neurons communicate with other brain regions in different ways, leading to various motor defects. The researchers discovered unique activity patterns responsible for different abnormal movements, providing a foundational framework for new treatment approaches.
A recent study discovered rare YKT6 gene variants as the cause of a new neurological disorder characterized by developmental delays, severe progressive liver disease, and a potential risk for liver cancer. The study found that these variants impair autophagy, leading to abnormal protein accumulation and cellular waste breakdown issues.
Texas Children's Hospital and Baylor College of Medicine researchers have created a toolkit of transgenic flies expressing all ten Zika virus proteins. The study found that these protein expressions induced diverse effects on the developing nervous system, including lethality, reduced brain size, and functional defects. This new experi...
Researchers have found that inhibitory neurons play a more critical role in the pathogenesis of STXBP1 disorder. The study's findings suggest that reducing functional STXBP1 protein in GABAergic inhibitory neurons has a more significant impact on symptoms, including early lethality and developmental delay.
A recent study discovered a biological role of TMEM208 in fruit flies and humans. The gene variant causes developmental defects, seizures, and a multisystem disorder, highlighting the importance of endoplasmic reticulum stress regulation in cellular development.
Researchers discovered a link between PPFIA3 dysfunction and a rare neurodevelopmental disorder. The study identified 17 unique variants in the PPFIA3 gene, which cause delayed development, intellectual disability, and other symptoms.
A new AI-based predictive tool called PARMESAN helps scientists discover potential treatments for genetic disorders by analyzing public biomedical literature databases. The tool assigns weighted scores to gene-protein interactions, identifying promising drugs and accelerating research speed.
Researchers developed a comprehensive toolkit of fruit fly COVID-19 resources (DCR) to study viral and human protein interactions, aiming to develop therapies for long-COVID symptoms. The toolkit enables systematic global analysis of in vivo interactions between SARS-CoV-2 and human cells.
A study led by Dr. Roy Sillitoe discovered the cerebellum as a source of generalized convulsive seizures, implicating alterations in midbrain neurons and a reciprocal cortico-thalamic loop. The research found that 80% of VPM neurons contribute to seizures, with cerebellar circuits driving seizure activity.
Researchers discovered that CLN3 is essential for lysosome biogenesis and autophagic lysosomal reformation (ALR), uncovering a novel disease mechanism in Batten disease. The loss of CLN3 impairs lysosome formation, leading to the accumulation of dysfunctional lysosomes.
Researchers discovered six distinct neuronal lineages in pons region of brainstem, critical to motor movements. Partial loss of Atoh1 gene function affects specific subtypes of pontine nuclei neurons, leading to differences in vulnerability.
Researchers used a machine-learning method to identify sex-specific genes and molecular pathways contributing to Alzheimer's disease progression. The study found that females experience faster cognitive decline, while males have greater mortality rates.
Openseize breaks down massive datasets into smaller fragments for efficient analysis, extracting important biomarkers like frequency densities and spike rates from one-dimensional digital signals. The software has wider applicability beyond brain signal analysis, potentially exploring biomedical data in various fields.
Researchers found a novel biomarker, Sphingosine 1-Phosphate, linked to neuroinflammation in MS. A synergistic treatment combining Bezafibrate and Fingolimod reversed pathologies in animal models, offering potential improved therapy for patients.
A multidisciplinary team of experts developed a new dual-target DBS approach targeting two distinct brain regions to simultaneously treat OCD and TS. This approach allowed for optimal and sustained improvement in severe symptoms, providing hope for treatment-resistant patients.
A recent study has revealed two distinct types of cells in the locus coeruleus, a small nucleus in the brainstem, connected via gap junctions. This discovery has far-reaching implications for understanding neuropsychiatric and neurodegenerative conditions.
Researchers found that single copy loss of CDKNA/B genes accelerates aggressive meningioma recurrence and offers a poor prognosis. The study suggests refining diagnosis by identifying group C tumors and further checking for CDKN2A/B gene loss.
Researchers identified a novel neurodevelopmental epilepsy disorder caused by alterations in the EIF4A2 gene, leading to intellectual disability, hypotonia, and epilepsy. The study used fruit flies to demonstrate the causal role of EIF4A2 mutations, providing insights into protein translation regulation and brain development.
Researchers have developed an animal model of West syndrome, which exhibits a progressive increase in epileptic spasms and learning and memory deficits. The study, published in Epilepsia, establishes this as an ideal model to identify underlying molecular mechanisms and discover targeted therapies for the condition.
A study led by Dr. Hugo Bellen has identified a new syndromic intellectual disability caused by a spontaneous mutation in the MTSS2 gene. The research used fruit fly models to investigate the genetic alteration, which resulted in a functionally-altered MTSS2 protein leading to symptoms similar to those seen in patients with the condition.
A team of researchers uncovered new genomics evidence of unique differences in heart muscle cells and immune systems of CHD patients, providing a roadmap for personalized medicine. The study aims to improve the natural history of congenital heart disease by targeting individual cell types and gene pathways.
A groundbreaking study found that infantile spasm patients and animal models have reduced IGF-1 levels in their brains, leading to treatment breakthroughs. The administration of an IGF-1 analog successfully eliminated spasms and abnormal brain activity in IS animal models.
Researchers discovered a novel neurological disorder caused by spontaneous mutations in the RNF2 gene, leading to symptoms such as intellectual disabilities, seizures, and feeding difficulties. The study, led by Dr. Shinya Yamamoto and Dr. Vandana Shashi, found that loss-of-function variants in RNF2 disrupt normal neuronal development ...
A recent study reveals that long-term infection and chronic inflammation lead to a decline in immune function, particularly in older adults. The research found that Dnmt3a-loss of function HSCs exhibit increased self-renewal and reduced differentiation into immune cells, ultimately outcompeting normal HSCs.
A team of researchers identified a novel biomarker, membrane-bound BASP-1 protein, to visualize adult human neural stem cells in the live mammalian brain. This discovery enables better understanding of neurogenesis and its relevance to neurological disorders, potentially leading to new therapeutic approaches.
The American Diabetes Association has lowered the target HbA1C levels for children with type-1 diabetes to less than 7% to reduce acute and long-term organ damage. The new guidelines aim to improve immediate and long-term health outcomes, fewer complications, and reduced mortality rates in T1D children.
A study by Texas Children's Hospital found that infants with hypoplastic left heart syndrome (HLHS) who are born near a hospital with high-volume cardiac surgical centers have improved survival rates. Prenatal diagnosis is also crucial in reducing mortality.
Texas Children's Hospital researcher Dr. Jeffrey Jacot receives a National Science Foundation CAREER Award and $450,000 grant to develop tissue engineering therapies using stem cells derived from human amniotic fluid. The goal is to create living heart tissue that can 'patch' or reconstruct hearts with congenital defects.
A new study published in Fertility and Sterility reveals that the health of a woman's uterus is more relevant than egg quality for a successful pregnancy outcome. The research found that babies born from frozen embryo transfer cycles had markedly greater birth weights compared to those born through standard IVF.
Four researchers from the Center for Vaccine Awareness and Research at Texas Children's Hospital presented studies on vaccine attitudes, rotavirus prevention, pertussis cocooning, and school-based immunization programs. The research aimed to educate parents about immunizations and promote healthier children and families.
Dr. Gail Demmler-Harrison, a renowned pediatric virologist, received the Thomas Hazinski Award for her exceptional service to the Society for Pediatric Research. She has advanced the study of pediatric diseases through her dedicated work in laboratories and with patients.
Two studies by nephrologists at Texas Children's Hospital reveal that mild renal insufficiency is linked to poor outcomes in children with acute decompensated heart failure. Additionally, the research shows that hypertension in children is a silent disease that requires early screening and management.
A life impact study found that adults with childhood onset ankylosing spondylitis experience more serious physical deformity and work-related disability than those who develop the disease as adults. Early diagnosis and treatment can significantly improve symptoms and prevent long-term effects.