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Scientists explore black box of genome biology

Scientists explore black box of genome biology

Scientists at Florida State University, Baylor College of Medicine and the Broad Institute of Harvard and MIT have broken ground in a little-understood area of human genetics. [More]
Scientists discover X-chromosome-inherited type of osteogenesis imperfecta

Scientists discover X-chromosome-inherited type of osteogenesis imperfecta

Researchers from the University of Zurich and University Children's Hospital Zurich have discovered the first X-chromosome-inherited type of the congenital disease osteogenesis imperfecta, also known as brittle-bone disease. [More]
Researchers identify astroglia-mediated mechanism for causing FXS symptoms in mice

Researchers identify astroglia-mediated mechanism for causing FXS symptoms in mice

A study published today in the Journal of Neuroscience led by Yongjie Yang of Tufts University School of Medicine identifies an astroglial trigger mechanism as contributing to symptoms of fragile X syndrome in mice. [More]
Researchers use sensitive technique to reveal high levels of genetic heterogeneity in schizophrenia

Researchers use sensitive technique to reveal high levels of genetic heterogeneity in schizophrenia

International researchers centered at Nagoya University use a highly sensitive technique to identify significantly more DNA sequence repeats in patients with schizophrenia than in control individuals, and outline a possible link between genome instability and disease. [More]
Researchers explore why women have ubiquitous survival advantage than men

Researchers explore why women have ubiquitous survival advantage than men

Women live longer than men. This simple statement holds a tantalizing riddle that Steven Austad, Ph.D., and Kathleen Fischer, Ph.D., of the University of Alabama at Birmingham explore in a perspective piece published in Cell Metabolism on June 14. [More]
Researchers receive $2.4 million grant to study effects of parenting on behavior of adolescents with FXS

Researchers receive $2.4 million grant to study effects of parenting on behavior of adolescents with FXS

University of Kansas researchers have been awarded a five-year, $2.4 million grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development to study the effects of parenting on the development and behavior of adolescents with Fragile X syndrome, a single-gene disorder that is the most common cause of inherited developmental disability and the leading genetic cause of autism. [More]
Research sheds light on how subtle genetic differences in DMD patients produce variation in symptoms

Research sheds light on how subtle genetic differences in DMD patients produce variation in symptoms

Johns Hopkins researchers report they have inadvertently found a way to make human muscle cells bearing genetic mutations from people with Duchenne muscular dystrophy (DMD). [More]
lncRNA in placenta may help protect unborn baby from invading pathogens

lncRNA in placenta may help protect unborn baby from invading pathogens

The human placenta is an organ unlike any other. During the course of nine months it is formed by the embryo, sustains life and then is shed. [More]
Novel spoken-language intervention could benefit children, adolescents with developmental disabilities

Novel spoken-language intervention could benefit children, adolescents with developmental disabilities

Sean Sawicki, who has fragile X syndrome, can be hard to understand and doesn't always have the attention span to carry on a sustained conversation. But a novel intervention developed by UC Davis MIND Institute researchers seems to be making a difference. [More]
UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

UT Southwestern Medical Center researchers have discovered a mutation that causes a rare systemic disorder known as X-linked reticulate pigmentary disorder (XLPDR) and, significantly, the unexpected cellular mechanism by which the mutation causes the disease. [More]
Virus-generated DNA lurking between human genes, show research

Virus-generated DNA lurking between human genes, show research

Think your DNA is all human? Think again. And a new discovery suggests it's even less human than scientists previously thought. [More]
Research: X and Y DNA swapping may occur more often than previously thought

Research: X and Y DNA swapping may occur more often than previously thought

It turns out that the rigid "line in the sand" over which the human sex chromosomes---the Y and X--- go to avoid crossing over is a bit blurrier than previously thought. Contrary to the current scientific consensus, Arizona State University assistant professor Melissa Wilson Sayres has led a research team that has shown that X and Y DNA swapping may occur much more often. [More]
Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL

Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL

A research team led by St. Jude Children's Research Hospital scientists has discovered details of how the abnormal breakage and rearrangement of chromosomes in white blood cells triggers a particularly aggressive form of acute lymphoblastic leukemia (ALL). Such leukemias are cancers of white blood cells, in which genetic mutations trigger overproduction of immature cells, called lymphoblasts. [More]
LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

The London-based LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established a Program of Excellence to develop effective treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures. [More]
Researchers identify new targets that may help prevent and cure colon cancer

Researchers identify new targets that may help prevent and cure colon cancer

When the audio on your television set or smart phone is too loud, you simply turn down the volume. What if we could do the same for the signaling in our bodies that essentially causes normal cells to turn cancerous? New discoveries by researchers at the Stephenson Cancer Center at the University of Oklahoma may point to new ways to do just that. [More]
New gene cut-and-paste methods help correct disease-causing mutation in animal model

New gene cut-and-paste methods help correct disease-causing mutation in animal model

For the first time, researchers have treated an animal model of a genetic disorder using a viral vector to deliver genome-editing components in which the disease- causing mutation has been corrected. [More]
Two studies shed new light on nature of tandem DNA repeat arrays

Two studies shed new light on nature of tandem DNA repeat arrays

A pair of studies by a team of scientists has shed new light on the nature of a particular type of DNA sequences—tandem DNA repeat arrays—that play important roles in transcription control, genome organization, and development. [More]
Scientists find how APOBEC protein becomes dangerous when DNA replication process goes wrong

Scientists find how APOBEC protein becomes dangerous when DNA replication process goes wrong

Cancer is caused by the growth of an abnormal cell which harbours DNA mutations, "copy errors" occurring during the DNA replication process. If these errors do take place quite regularly without having any damaging effect on the organism, some of them affect a specific part of the genome and cause the proliferation of the mutant cell, which then invades the organism. [More]
Study provides evidence for use of inherited genetic markers to improve melanoma prognostication

Study provides evidence for use of inherited genetic markers to improve melanoma prognostication

Melanoma is the most dangerous and lethal form of skin cancer. But just how long will a patient survive following the removal of a melanoma tumor? A more definitive answer to that question could come from new studies at NYU Langone Medical Center and its Laura and Isaac Perlmutter Cancer Center. Researchers there have discovered an inherited genetic marker that might provide clinicians with a personalized tool to gauge an individual's survival and determine which patients require closer monitoring in the years following surgery. [More]
UC Berkeley researchers make major improvement in CRISPR-Cas9 gene editing technology

UC Berkeley researchers make major improvement in CRISPR-Cas9 gene editing technology

University of California, Berkeley, researchers have made a major improvement in CRISPR-Cas9 technology that achieves an unprecedented success rate of 60 percent when replacing a short stretch of DNA with another. [More]
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