Sentences with phrase «gene disorders including»

Not exact matches

Other directions for future research, Liu said, include looking at the role of CLOCK in more forms of the disease, learning more about exactly how CLOCK affects neural circuits to disrupt adequate inhibition of excitatory neurons, and examining whether any of the genes that CLOCK regulates are especially important in the disorder.

The largest of its kind, the study examined genetic data in 100,000 individuals including 40,000 people with a diagnosis of schizophrenia and also found that some of the genes identified as increasing risk for schizophrenia have previously been associated with other neurodevelopmental disorders, including intellectual disability and autism spectrum disorders.

Mutations of miR - 182 have been associated with a wide range of disorders, including insomnia and depression, and elevated expression appears to impact genes that regulate the body's circadian rhythm.

The researchers measured heritability — the amount of variation in a characteristic that can be attributed to genes — for a wide variety of human traits including blood pressure, the structure of the eyeball and mental or behavioral disorders.

For instance, when the researchers analyzed 146 human genes implicated in 168 neurological disorders, including Alzheimer's and Parkinson's diseases, they found 104 counterpart genes in the sea slugs.

For example, genetic changes in the FCGR2 gene are known risk factors for several autoimmune disorders, including those just noted.

«Newly revealed autism - related genes include genes involved in cancer: Using a computational technique that accounts for how genes interact, scientists revealed genes that may be related to autism spectrum disorder.»

Other plans include using CRISPR to reverse blood disorders, such as sickle cell anemia and beta thalassemia, caused by mutations in the hemoglobin gene.

Such an in - depth analysis of gene expression may help clarify the course and origin of common liver disorders, including liver cancer and non-alcoholic fatty liver disease, which affects about a fifth of the population in developed countries.

Differences in the ability of a particular gene to influence a child's development depending on who it was inherited from, have been seen in a number of disorders, including Huntington's disease and fragile - X syndrome («Why genes have a gender», New Scientist, 22 May 1993).

However, most disease genes discovered in the past decade indicate only an elevated risk, not a certainty, of developing the disorders with which they are associated, including cancer, diabetes, and heart disease.

Preclinical studies suggest that Cdk5 is a gene that is important for the normal wiring of the brain during early development and may be involved in some neurodegenerative disorders, including ALS, Parkinson's and Alzheimer's disease.

A rare eye disorder marked by color blindness, light sensitivity, and other vision problems can result from a newly discovered gene mutation identified by an international research team, including scientists from Columbia University Medical Center (CUMC).

The researchers» next step is to use the genomic data they collected from the families — including full genome sequences and gene expression data — to begin identifying the specific genes that contribute to risk for bipolar disorder.

Animals with gene mutations that significantly alter their circadian rhythms have shorter life spans, and circadian rhythm sleep disorders in humans can have profoundly negative effects, including increased risk for obesity, depression, cardiovascular disease and cancer.

The researchers showed these relationships between ecRNA production and gene activity in neurons included genes whose expression is altered by neuronal activity and genes implicated in developmental and neurodegenerative disorders.

Although variations in the NPAS1 and NPAS3 genes have been linked to brain disorders including autism, they aren't obvious drug targets because their function is most important in early life.

Still, Dudley feels that evolutionary genetic analysis can help identify the most relevant genes and pathological mechanisms at play in schizophrenia and possibly other mental illnesses that preferentially affect humans — that is, neurodevelopmental disorders related to higher cognition and GABA activity, including autism and attention - deficit / hyperactivity disorder.

Other blood disorders that have shown significant benefit from targeted gene therapy in small trials include hemophilia (specifically, factor IX deficiency), severe beta - thalassemia (deficiency for the adult beta - globin gene) and leukemia, where the patient's immune cells were treated to enable them to recognize cancer cells and destroy them.

Finally, a large subset of genes is linked to brain development, including neural growth (NINJ1, NTM), axon and glial guidance (MATN2, DCC, ASTN1), synapse plasticity (DLGAP1), neurogenesis (ALK, NUMB) and a variety of neurological disorders.

Lentiviral - based gene therapy methods to modify human CD34 + hematopoietic stem cells have been investigated as a way of treating various hematological disorders including X-linked chronic granulomatous disease (X-CGD).

The recent Nature paper «High - throughput discovery of novel developmental phenotypes» describes the systematic high - throughput phenotyping screens used in the knock out mice and gives insight into a variety of gene function while a strong correlation was found between genes causing lethality in mice and genes causing diseases in humans, including cardiovascular defects, spina bifida, and metabolic disorders, among many others.

Scientists, including speaker Petter Stromme of the University of Oslo, have found that the disorder is caused by a genetic mutation in the SLC9A6 gene on the X chromosome.

Limb malformations are among the most common human birth defects, including the rare disorder Holt - Oram Syndrome, characterized by external shortened arms and hands and associated with defects in a gene closely related to Tbx4.

Researchers have tied mutations in a gene that causes amyotrophic lateral sclerosis (ALS) and other neurodegenerative disorders to the toxic buildup of certain proteins and related molecules in cells, including neurons.

The focus of Dr. Smoller's research interests has been 1) understanding the genetic and environmental determinants of psychiatric disorders across the lifespan; 2) integrating genomics and neuroscience to unravel how genes affect brain structure and function; and 3) using «big data», including electronic health records and genomics, to advance precision medicine.

A protein called disrupted - in - schizophrenia 1, encoded by the DISC1 gene, has been established as a genetic risk factor for a wide array of psychiatric disorders, including schizophrenia, bipolar disorder, major depression,...

Their investigation found 61 genes associated with autism, including 18 that hadn't previously been linked to the disorder.

By characterizing the role of gene mutations and copy number variations in a number of complement associated disorders, including kidney diseases, such as HUS (Hemolytic Uremic Syndrome), DDD (Dense Deposit Disease) or AMD (Age Related Macular Degeneration) the group has identified new disease subtypes of this severe kidney diseases.

This approach may also be applicable to a number of rare genetic diseases caused by splicing defects, including ataxia telangiectasia, congenital disorder of glycosylation, and Niemann - Pick disease type C. Although the three DMD studies referenced here represent a great step forward for CRISPR gene therapy, it's important to realize that DMD is a simpler case than other genetic diseases we'd like to treat with CRISPR.

We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders.

Here we present 19 de novo mutations in this gene, including five missense mutations, identified by the Deciphering Developmental Disorder study.

Jeans for Genes Day is celebrating its 20th year of fundraising for children with genetic disorders on Friday 18th September 2015, and this year a host of celebrities are backing the campaign including Kate Moss, Amanda Holden and SpongeBob Square Pants.

CEA, which segregates in several herding breeds with Collie ancestry, was mapped to a large region of CFA37 that included over 40 genes [92]; subsequently the fact that the disorder segregates in multiple, closely related breeds was used to reduce the size of the critical disease - associated region and pinpoint the causal mutation to a 7.8 kb intronic deletion in the NHEJ1 gene, which spans a highly conserved binding domain to which several developmentally important genes bind [91].

However, it is possible that if the different disorders included in the term» elbow dysplasia» were separated in the data of the Finnish Kennel Club, a separate study could find major genes.

If, as Dr. Olsson has said, osteochondrosis is the description of a general disorder in which HD is one manifestation, and elbow problems are others, then perhaps by selecting for normal hips, our better American breeders were unwittingly and unintentionally selecting dogs with fewer genes for osteochondrosis of any sort, including in elbows.