Sentences with phrase «syndrome gene study»

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The total «knockout» of the gene makes the model more effective for studying SHANK3 - related autism and Phelan - McDermid syndrome in humans, many of whom are missing the gene completely, said senior author Yong - hui Jiang, M.D., Ph.D., an associate professor of pediatrics and neurobiology

Jiang said autism researchers worldwide could use the mouse model to study ways to compensate for the gene and improve symptoms in people with autism spectrum disorders and Phelan - McDermid Syndrome, a more profound developmental condition caused by mutations to SHANK3 and other genes in chromosome 22.

Researchers at IRB Barcelona study CEP63, a gene that is mutated in Seckel Syndrome, a rare disease that causes microcephaly and growth defects.

The results of this study not only advance science's understanding of the links between genes, the brain and behavior, but may lead to new insight into such disorders as autism, Down syndrome and schizophrenia.

Gene variants common in people of Asian and European ancestry, for instance, make them more prone than those of African origin to developing severe dengue shock syndrome, according to a new study in PLOS Neglected Tropical Diseases.

Using a novel combination of technologies, including trio exome sequencing of patient / parental DNA and genetic studies in the tiny larvae of zebrafish, the EuroEPINOMICS RES consortium found that mutations in the gene CHD2 are responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome — a severe form of childhood epilepsy that is in many patients resistant to currently available anti-epileptic drugs.

The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 ofUFD1L was found in one individual with features typical of 22q11 deletion syndrome.

These new findings, along with other recent studies, suggest that the risk for congenital heart defects in Down syndrome can come from several genes and environmental factors, in addition to the substantial risk from the extra chromosome 21.

«Studying congenital heart defects in the «at risk» Down syndrome population can make it possible to reveal genes that impact the risk of heart defects in all children, including those with typical number of chromosomes.»

To confirm and strengthen the findings, Zwick and his team are currently performing an independent study of individuals with Down syndrome, using whole genome sequencing to further delineate alterations in genes that perturb heart development in children.

A new study led by researchers at Boston Medical Center (BMC) indicates that variations in opioid receptor genes are associated with more severe neonatal abstinence syndrome (NAS) in newborn babies.

Even clearer evidence that disruptions in gene imprinting can undermine mental health comes from studies of Prader - Willi syndrome, a disorder that affects growth, sexual development and cognitive ability.

In a study described in the January 28 issue of Nature Neuroscience, the Hopkins team describes this new gene control mechanism and how it may contribute to Rett Syndrome, a nervous system disorder affecting mostly girls that causes problems with movement and communication.

The issue of sex is particularly acute in preclinical studies of Rett syndrome, a disorder caused by mutations in a gene located on the X chromosome.

In a 2015 study of 46 people, Bearden found that people with 22q11.2 deletion syndrome who have autism show different patterns of gene expression than do those with the syndrome who have schizophrenia3.

Rutgers scientists said this study indicates how critical it is to carefully control oxidative stress — which can also lead to neurodegenerative diseases like Parkinson's and Alzheimer's, chronic fatigue syndrome, cancers and gene mutations as well as liver and heart disease — so that cell or tissue damage doesn't occur.

Kuruvilla's lab group — which has been studying the peripheral nervous system for years — found that abundance of a particular gene product in Down syndrome puts a brake on NGF's actions in fostering nerve development.

Among infants with neonatal abstinence syndrome (NAS; caused by in utero opioid exposure), variants in certain genes were associated with a shorter length of hospital stay and less need for treatment, preliminary findings that may provide insight into the mechanisms underlying NAS, according to a study in the May 1 issue of JAMA, a theme issue on child health.

A new study backs that idea, linking a gene that is triplicated in Down syndrome to a lower risk of colon cancer in mice.

The study corrects an oversimplification that has dogged the field, says Marie - Claude Potier, a geneticist at the Institute of Physics and Chemistry in Paris: «I never believed that correcting a few genes from the DSCR would cure Down syndrome.»

Drugs capable of activating silenced genes improve survival and growth outcomes in a mouse model of Prader - Willi syndrome (PWS), a rare and incurable childhood disease, according to a study funded by the National Institutes of Health (NIH).

Studies are in progress to analyze the proinflammatory cytokines gene expression in the NWO syndrome.

The study, published in Human Molecular Genetics, has shown that the majority of genes associated with Nephrotic Syndrome (NS) in humans are also pivotal in Drosophila renal function, validating transgenic flies as accurate pre-clinical models.

The study published this month in PLoS Genetics and led by Jamie Kramer, PhD, assistant professor at Western's Schulich School of Medicine & Dentistry uncovers a new syndrome characterized by a mutation in a gene called KMT2C.

Dr. Korenberg has studied Williams syndrome for more than 15 years through a Program Project from NICHD called «Williams Syndrome: Linking Cognition, Brain and Genesyndrome for more than 15 years through a Program Project from NICHD called «Williams Syndrome: Linking Cognition, Brain and GeneSyndrome: Linking Cognition, Brain and Gene.»

La Jolla, CA — Unraveling the genetics of social behavior and cognitive abilities, researchers at the University of Utah and the Salk Institute for Biological Studies have traced the role of two genes, GTF2I and GTF2IRD, in a rare genetic disorder known as Williams Syndrome.

Researchers studying worms have discovered new information on a gene that is involved in the development of Joubert syndrome, a genetic disorder that affects the brain stem.

To distinguish the roles of the two genes, postdoctoral researcher and study first author Li Dai, Ph.D., combed the genomes of 17 Williams Syndrome patients to identify those who had lost only one GTF2I gene.

The study zeros in on the genes that may lead to the marked extroverted behavior seen in children with Williams syndrome, demonstrating that «hyper - sociability» — especially the drive to greet and interact with strangers — follows a unique developmental path.

The study reports a genetic variant in the gene MYH6 that is associated with high risk of sick sinus syndrome (SSS) in Icelanders.

A new study conducted by an international team of scientists traces the gene mutations in 11 children who have what some people call «Struwwelpeter syndrome,» after the bushy - haired character «Shockheaded Peter» from the 19th - century German children's book «Struwwelpeter.»

Semenza's team uncovered the mitochondrial mechanism in a study of Von Hippel - Lindau (VHL) syndrome, caused by a single gene mutation and characterized by the tendency to develop tumors in many parts of the body, including the kidney, brain and adrenal glands.

In the McKusick - Nathans Epigenetics and Chromatin Clinic, she studies how a mutation in the EZH2 gene leads to Weaver syndrome, a genetic disorder characterized by rapid growth and intellectual disability.

According to the NIH, various research studies have looked at the effects of CoQ10 for ALS, Down syndrome, Parkinson's, diabetes, and even age - related changes in genes, but none of them have been definitive.