Scientists at Baylor College of Medicine have created a new disease model that closely resembles the human mechanisms and effectively studies hypercholesterolemia. The study successfully cured the disorder using gene therapy, offering a promising approach for treating metabolic diseases.
Researchers have found a molecular 'switch' that safely controls severe side effects associated with haploidentical stem cell transplantation. The switch, inducible caspase 9 (iC9), is activated by a single dose of bio-inert chemical and clears symptoms without jeopardizing graft function.
Researchers have developed a new therapy using naïve cells to prevent cytomegalovirus, Epstein-Barr virus, and adenovirus infections in cord blood transplant patients. The treatment has shown safety and efficacy in clinical trials.
Researchers discovered that MeCP2 binds to non-CG methylation patterns in the adult brain, which is unique to maturing and adult nervous systems. This finding explains why Rett syndrome symptoms appear after one to two years of age.
Mutations in calcium channel genes disrupt autophagy in neurons, leading to neurodegeneration. Calcium channels play a key role in regulating autophagic vesicle fusion with lysosomes, maintaining neuronal homeostasis.
By disabling the Wnt signaling pathway, researchers may be able to repair damaged white matter in the brain, a potential breakthrough in treating cerebral palsy and multiple sclerosis. The study's findings suggest that targeting the Daam2/PIP5K interaction could accelerate oligodendrocyte differentiation and promote myelination.
For the first time, researchers have visualized the molecular machine made up of the estrogen receptor, its coactivator SRC-3, another coactivator called p300, and DNA. This 3-D image revealed the spatial relationships among these molecules, suggesting how the receptor recruits the co-activators and activates genes.
Researchers found lipid droplet accumulation in glial cells before signs of neurodegeneration appeared, leading to impaired support for neurons. Reducing components of the pathway can delay neurodegeneration.
Researchers created a detailed map of human genome's looping structure, revealing that DNA loops play an essential role in nearly every cell process. The study also identified thousands of hidden genetic switches and rules governing loop formation.
Researchers have identified a gene associated with familial glioma, suggesting that certain individuals may be genetically predisposed to the disease. The POT1 gene mutation is linked to lower-grade oligodendroglioma, which is more sensitive to radiation therapy, and raises hopes for improved treatments and preventive strategies.
Researchers found that cancer stem cells regrow and respond to chemotherapy-induced damage by releasing prostaglandin E2, leading to therapy resistance. Blocking PGE2 could potentially enhance therapeutic response, offering a promising new treatment for bladder cancer.
Researchers develop a method to activate expression of paternal Ube3a allele, reducing cognitive deficits associated with the disorder. A study in mice showed promising results, paving the way for future human trials.
The first myriapod genome sequence has been completed, revealing new insights into the biological evolution and unique characteristics of venomous centipedes. The genome sequence uncovered clues about their absence of vision and circadian rhythm, as well as their ability to detect chemicals in air.
Researchers at Baylor College of Medicine discovered calcein inhibits TopBP1 activities, leading to anti-tumor effects. The study found calcein has potential as a treatment for multiple cancers, including breast and ovarian cancer.
Genomic tests using next generation sequencing technologies face access issues due to inadequate evidence on clinical utility. Experts suggest a four-pronged approach to improve access, including robust validation studies, prioritizing research and evidence, and evolving the evidence review process.
Researchers from Baylor College of Medicine have made significant breakthroughs in whole exome sequencing, confirming a molecular diagnosis in 25% of patients and identifying rare genetic events as major contributors to disease susceptibility. The technology is expected to revolutionize the field of pediatrics and medicine.
The gibbon genome sequence provides a new understanding of the genetic mechanism behind rapid chromosomal rearrangements, shedding light on chromosome structure and function. The study's findings have significant implications for cancer research and the origin of human diseases.
A new mouse model reveals that high levels of Notch1 can transform osteoblasts into cancerous cells, leading to osteogenic sarcoma. This study supports the hypothesis that Notch activating mutations can act as a common triggering mechanism in bone cancer.
Researchers at Baylor College of Medicine developed an estrogen-based compound that inhibits binge-like eating behavior in female mice. The study found that the compound, GLP-1-estrogen, works by delivering estrogen to specific brain regions where serotonin neurons are present, reducing binge eating.
A new tool called KnIT has shown promise in mining all public medical literature and generating hypotheses that can lead to breakthroughs in cancer research. The tool was tested on the protein p53, which is a critical tumor suppressor protein, and accurately predicted the existence of proteins that modify it.
A team of scientists sequenced chromophobe renal cell carcinoma tumors and found unique alterations involving telomerase, a gene that plays a critical role in cell division. This discovery provides new clues about the disease's biology and may lead to the development of targeted therapies for this rare type of kidney cancer.
Researchers at Baylor College of Medicine have successfully incorporated a cream supplement into premature infants' diets, improving their growth outcomes in the NICU. The study found that adding human milk fat to an exclusive human milk diet enhanced weight and length gain in premature babies, indicating improved lean mass growth.
Researchers developed a new computational method to study disease-causing genes, starting with Plasmodium falciparum malaria. The method allowed for the prediction of protein functions and revealed the role of EXP1 in detoxifying metabolic byproducts and drug susceptibility.
Researchers have made significant breakthroughs in understanding the relationship between genetic changes and disease causation using next-generation sequencing technology. Subtle gene changes are now being associated with unique disease presentations, even in previously undiagnosed forms of disease.
Researchers have uncovered a new gene fusion that may contribute to the development of luminal B breast cancer, a subtype associated with more aggressive forms and higher recurrence rates. The study found that this fusion is present in approximately 8% of tumor samples and can lead to increased cell motility and invasion.
A recent study by an international team of scientists has clarified the frequency and influence of mosaicism in genomic disorders. Mosaicism was found to be much more common than previously thought, contributing significantly to recurrence risk in future offspring.
Researchers at Baylor College of Medicine created a mouse model showing that epigenetic alterations alone can cause cancer. DNA methylation changes led to a higher incidence of spontaneous cancers and reduced survival in the mice.
The study reveals genetic changes associated with twinning in marmosets, including the WFIKKN1 gene that may act as a critical switch between multiples and singleton pregnancies. Marmosets also exhibit unique social behavior, where relatives care for offspring while reproductively suppressed.
An international team has completed the first ever sequence of the sheep genome, shedding light on their specialized digestive systems and fatty acid metabolism. The study identified genes involved in wool synthesis and lipid metabolism, providing valuable insights into the species' unique characteristics.
A new genetic cause has been identified for two common male reproductive birth defects: cryptorchidism and hypospadias. The VAMP7 gene duplication was found to be the underlying cause of these defects in nearly 1.35% of patients, with no similar association observed in control subjects.
Researchers have identified a new approach to treating brittle bone disease by targeting excessive activity of transforming growth factor beta, a signaling protein in the bone matrix. This novel treatment strategy shows promise for personalized and effective management of the condition, potentially applicable to osteoporosis as well.
Researchers identify AHDC1 gene as cause of newly recognized genetic syndrome with symptoms of sleep apnea, delayed speech and hyptonia. The study analyzed DNA sequences from patients and their families, revealing damaging mutations in the same gene across multiple cases.
Researchers identify CLP1 as a cause of a rare neurological disorder affecting brain development and peripheral nerves, leading to cell death in neural progenitor cells. The study reveals a new mechanism involving tRNA biogenesis, which explains the disorder's symptoms.
Using mouse models, researchers identified a protein that regulates alternative splicing and affects heart contraction and function during postnatal development. CELF1 protein plays a crucial role in regulating certain alternative splicing events, which are associated with endocytosis and vesicular trafficking.
Researchers found that myotonic dystrophy type 1 disrupts the normal control of gene expression in heart tissue, specifically affecting microRNAs. This disruption leads to abnormal protein activity, resulting in disease symptoms such as heart malfunction and death.
Researchers from Baylor College of Medicine and the CHARGE consortium successfully sequenced DNA of over 14,000 individuals using next-generation sequencing. The large-scale cloud-based analysis enables access to an expansive network of genomic data for international collaboration.
Researchers have pinpointed a specific gene responsible for Prader-Willi syndrome, an imprinted disease affecting muscle tone, feeding difficulties, and intellectual disability. The study identified mutations in the MAGEL2 gene, which was found in three additional patients with similar symptoms.
A study involving 83 physicians and 42 healthcare personnel found that modest monetary incentives resulted in a significant 8.36% increase in patients with controlled blood pressure. However, combined team incentives had no significant effect on physician behavior.
Researchers found that toll-like receptor 4 is activated by fibrinogen cleavage products, which are generated by proteinase enzymes. This activation leads to the production of pro-inflammatory cytokines and the recruitment of immune cells to the airways, resulting in asthma-like symptoms.
A study by Baylor College of Medicine found that growth-restricted mice became obese due to reduced physical activity, not increased appetite. This discovery has implications for the worldwide obesity epidemic affecting millions of low birth weight babies.
Researchers found aberrant splicing changes the form of an enzyme involved in metabolism, leaving slow muscle fibers unable to sustain exercise. This discovery may explain the muscle wasting seen in myotonic dystrophy, a disease characterized by abnormal CTG repeats.
A new gene therapy approach using a partially inactivated lentivirus has shown significant improvement in three children with Wiskott-Aldrich Syndrome. The therapy corrects the genetic defect in blood cells by introducing a normal WASP gene, reducing the risk of cancer-promoting genes.
Researchers have identified a genetic change associated with delayed language acquisition and brain imaging abnormalities in children from Southeast Asia. The chromosomal deletion affects the TM4SF20 gene, which may be responsible for early childhood language delay in a large number of children from this region.
Researchers found that reducing ataxin-1 protein levels by 20% can significantly delay onset of spinocerebellar ataxia 1 (SCA1) symptoms. A molecular pathway modulated to reduce toxic protein levels may provide a therapeutic approach for this devastating inherited condition.
A group of experts developed a framework for reporting incidental findings in clinical exome and genome sequencing, following the American College of Medical Genetics and Genomics recommendations. The framework justifies reporting clinically beneficial incidental findings as ethically compatible with respect for patient autonomy.
Researchers identified genetic controls that enable social amoebas to differentiate between gram-negative and gram-positive bacteria. The study found nearly 800 genes activated when exposed to gram-negative bacteria, highlighting a key role for a specific gene in degrading bacterial cell walls.
A team of researchers at Baylor College of Medicine has identified a signature of biomarkers that identifies circulating breast tumor cells destined to seed the brain with deadly cancer. The study shows limitations of current platforms used to identify cancer in this way, but also offers new hope for diagnosis and treatment.
A subset of breast cancer patients with HER-2 positive tumors may benefit from a combination of targeted treatments that avoid chemotherapy. The study, published in the Journal of Clinical Oncology, shows high efficacy in eradicating tumors and offers a groundbreaking approach to treatment without significant side effects.
Researchers found that SPOP mutations allow SRC-3 to proliferate and spread prostate cancer cells. The loss of SPOP's tumor-suppressing function enables SRC-3's cancer-promoting effects, making it an important target for prostate cancer treatment.
A naturally occurring protein called lubricin appears to protect against osteoarthritis, a common condition affecting over 70% of the population between 55-77 years old. Researchers found that mice with higher levels of lubricin did not develop traumatic or injury-induced osteoarthritis.