Sentences with phrase «studies of disease gene»

This network funds pilot studies to expedite collaboration between the two groups, conduct model organism - based functional studies of disease gene variants, and develop new therapeutic strategies using model organisms.

Coriell houses the world's largest biorepository of cell cultures and offers medical researchers from around the world access to these patient cell lines for study of disease genes, use in screening -LSB-...]

Not exact matches

In the study, whole - exome sequencing and a targeted analysis of 90 genes implicated in heart disease were applied to 419 unrelated SIDS cases.

As part of the study, researchers found that mice engineered to develop symptoms of human inflammatory disease, and which also lacked the ATG16L1 gene, developed gut damage.

Findings from a study into Crohn's disease, led by William G. Kerr, Ph.D., of SUNY Upstate Medical University, and his collaborators at the Erasmus Medical Center in the Netherlands, provide the first evidence that patients with debilitating inflammatory bowel disease lack sufficient quantities of a protein that comes from the SHIP1 gene.

McCallion's strategy to make sense of all this data looks at the active genes in cells affected by a disease, groups of genes that interact with one another, their vulnerability to mutation and information from past scientific studies to filter more than a thousand gene candidates for disease risk down to just a handful within any one implicated region.

Annabelle Rodriguez studies gene mutations that can lead to increased risk of heart disease, even in people with high HDL levels.

«I think it awakens the possibility of gene therapy for neuropsychiatric diseases,» says Husseini Manji, a senior investigator at Johnson & Johnson Pharmaceutical Research & Development in Titusville, N.J., who was not involved in the study.

According to studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time.

The researchers analyzed the characteristics of 178 patients with this disease drawn from a study of 2,995 melanoma patients enrolled in The Genes, Environment, and Melanoma study.

Scientists have shifted from studying single molecules to investigating large complexes of interacting biological macromolecules involved in processes such as metabolic pathways, gene expression, and development of disease.

«The state of the art right now is targeting two or three genes simultaneously and then looking at the effects, but we think that perhaps the gene sets that need to be modulated to address some of these diseases are actually broader than that,» says Lu, who is the senior author of the study.

«Gene sequencing study reveals unusual mutations in endometriosis: Findings advance search for new ways to classify aggressive forms of the disease.»

Predisposition to vascular disease was my focus here, using genetic epidemiological studies to identify novel polymorphisms in a range of candidate genes.

«Or we could use it to study the gene networks in diseases and get a better understanding of how those diseases work.»

According to recent studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time.

The search for the gene began in Finland, whose isolated population has often been studied for its elevated rate of rare genetic diseases.

Based on their results, Gigi Ebenezer, M.B.B.S., M.D., assistant professor of neurology and the first author on the study, reported that protein clumps were detected in 70 percent of cases and 20 percent of patients who carried disease - causing genes but hadn't yet developed symptoms.

Studying these rare diseases «can open a new way to understand the imprinting phenomenon, to see how, in the beginning of the development of the embryo, the embryo answers to stimuli» that regulate how its genes behave, says Giovanni Battista Ferrero, a pediatrician at the University of Turin in Italy.

Meanwhile, the gene - rich X is the most intensely studied of the 23 chromosomes, largely because of its role in rendering men vulnerable to an estimated 300 genetic diseases and disorders associated with those mutations — from color blindness to muscular dystrophy to more than 200 brain disorders.

Reviewing thousands of genome wide associate studies (GWAS) to identify genetic variants in single nucleotide polymorphisms (SNPs), investigators at Dartmouth's Norris Cotton Cancer Center found that some alleles (one of a pair of genes located on a specific chromosome) are more frequently risk - associated with disease than protective.

Specifically, the study authors were able re-create lupus disease processes, including the formation of antibodies to DNA and kidney inflammation, by engineering mice that lacked the gene for DNASE1L3.

In genetic studies conducted by gene researchers at the University of Helsinki, the gene defect causing the disease was found in the COL7A1 gene.

«Gene sequencing has opened a huge door to how complex these communities are,» says Patrick Seed, a Duke pediatrician specializing in infectious disease, who with biologist Rob Jackson is a lead investigator of the premature infant study.

The population study findings, including those from the JACC study, suggest that even the partial inactivation of ANGPTL3 — carriers typically have one mutant copy of the gene and one working copy — may be powerfully protective against coronary artery disease, which has long been one of the leading causes of death in developed countries.

«From other studies ***** we know that epigenetic modifications of the DPP4 gene, which are associated with an increased production of the enzyme, have a negative impact on the liver metabolism already in young mice, long before fatty liver disease emerges,» says Baumeier.

Because environmental exposures have not had time to impact IBD progression in children, researchers have a clearer genetic picture of the disease allowing them to pick out additional genes overlooked in adult research, says senior study author Hakon Hakonarson, director of the Center for Applied Genomics at The Children's Hospital of Philadelphia.

The study makes progress toward using gene editing to prevent genetic diseases, but there's still has a long way to go before clinical testing can begin, says Janet Rossant, a developmental biologist at the Hospital for Sick Children and the University of Toronto.

Inhibiting NF - ƘB in microglia in mice slowed disease progression by 47 percent, says Brian Kaspar, MD, a principal investigator in the Center for Gene Therapy at Nationwide Children's and senior author of the new study.

«With more than 1.7 million people dying globally from TB each year and the rise of strains that are resistant to drug treatment, we need a better way to prevent this disease,» said the study's principal investigator Louis Picker, M.D., who is the associate director of the OHSU Vaccine and Gene Therapy Institute and a professor of pathology, molecular microbiology, and immunology in the OHSU School of Medicine.

One study, known as DIAN TU, will administer experimental drugs to more than 160 people in the U.S., the U.K., and Australia who have one of three mutant genes that cause an early - onset version of the disease.

Among 10,503 adults participating in a heart disease study in Pakistan, 1,843 people have at least one gene of which both copies have been knocked out, researchers report online April 12 in Nature.

In this study, a team led by Panos N. Papapanou, DDS, PhD, professor and chair of oral, diagnostic and rehabilitation sciences at the College of Dental Medicine at CUMC, «reverse - engineered» the gene expression data to build a map of the genetic interactions that lead to periodontitis and identify individual genes that appear to have the most influence on the disease.

The celiac study followed 6,403 newborn children with either of two high - risk gene groups called HLA that are important for immune function — HLA - DR3 - DQ2 or HLA - DR4 - DQ8 — to see who would develop celiac disease or CDA.

A study led by researchers at Boston University School of Medicine (BUSM) provides novel insight into the impact that genes may have on Huntington's disease (HD).

In a study of mice, they found that they could correct the mutated gene that causes a rare liver disorder, in 6 percent of liver cells — enough to cure the mice of the disease, known as tyrosinemia.

The researchers conducted their studies in mice because patients with mutations in the STIM1 gene and that of the channel it activates, ORAI1, are extremely rare and often too sick to study due to chronic infections and lymphoproliferative disease.

Once they found that the OTULIN gene was abnormal in the sick children, they studied the immune pathway in order to understand the mechanisms of disease and to improve treatment of these patients.

«This is the first study to show the actual cell behaviors caused by mutations in genes causally linked to polycystic kidney disease, an important new step in the path towards treatment,» said Dr. Robert L. Bacallao, associate professor of medicine at the IU School of Medicine in Indianapolis.

By studying how these genes cause defects in fly and mouse models, we can improve our insights into the mechanisms related to human disease,» said corresponding author and Dr. Hugo J. Bellen, professor of neuroscience and molecular and human genetics at Baylor College of Medicine and an investigator at the Howard Hughes Medical Institute.

And large, genome - wide studies searching for genetic underpinnings for more common diseases, such as lung cancer or autism, have pointed to the nether regions of the genome between the protein - producing genes — areas that were often thought to contain «junk» DNA that was not part of the pantheon of known genes.

In another study, James Musser at the National Institute of Allergy and Infectious Disease showed different strains of staph could steal genes and transform themselves simultaneously in different places around the world.

«Our aim now is to study the role of these new gene switches in disease models.»

Willette and Webb say they wanted to take a more holistic approach with this study to better understand how this gene affects the course of the disease and certain outcomes such as motor skills and anxiety.

Now a study has found that the gene mutation's toxic effects require higher than normal levels of a protein called suPAR to trigger the onset and progression of the disease.

«We report here a gene therapy dose - finding study in a large animal model of a severe muscle disease where a single treatment resulted in dramatic rescue,» said Childers.

The new study focused on 40 cognitively healthy older adults between the ages of 65 and 75 who are carriers of a gene variant (APOE e4) that is known to contribute to the risk of developing late - onset Alzheimer's disease.

This essentially gives us «barcodes» of specific gene loci, which we can use to help untangle the complex genetics of complex diseases,» said Andrey Rzhetsky, PhD, professor of genetic medicine and human genetics at the University of Chicago, who led the study.

The new study — published October 18, 2016 in the journal Molecular Psychiatry — combined genetic analysis of more than 9,000 human psychiatric patients with brain imaging, electrophysiology, and pharmacological experiments in mutant mice to suggest that mutations in the gene DIXDC1 may act as a general risk factor for psychiatric disease by interfering with the way the brain regulates connections between neurons.

A follow - up study of 96 other patients with Alzheimer's disease confirmed that this HLA variant is associated with earlier onset of Alzheimer's, although Payami cautions that another gene very close to HLA - A2, and not HLA - A2 itself, could be at fault.