Chromosome News and Research

Latest Chromosome News and Research

Alterations in genomic region linked to risk of ASD have distinctive effects on cognition, study reports

A new study in Biological Psychiatry reports that variations in 16p11.2, a region of the genome associated with risk of autism spectrum disorder (ASD), have distinct effects on cognition. The findings highlight the diversity of people with ASD.

19 Jul 2016

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.

19 Jul 2016

Mutations in STN1 gene cause Coats plus syndrome

A team of Israeli researchers has discovered that mutations in STN1, a gene that helps maintain the ends of chromosomes, cause the rare, inherited disorder Coats plus syndrome.

18 Jul 2016

UC Davis scientists show how cells control DNA synthesis in mitochondria

Aging, neurodegenerative disorders and metabolic disease are all linked to mitochondria, structures within our cells that generate chemical energy and maintain their own DNA. In a fundamental discovery with far-reaching implications, scientists at the University of California, Davis, now show how cells control DNA synthesis in mitochondria and couple it to mitochondrial division.

18 Jul 2016

Salk scientists propose new molecular criteria for generating naïve stem cells

Salk scientists and colleagues have proposed new molecular criteria for judging just how close any line of laboratory-generated stem cells comes to mimicking embryonic cells seen in the very earliest stages of human development, known as naïve stem cells.

17 Jul 2016

Gender matching may be beneficial to reduce risk of corneal transplant rejection and failure

A study of patients undergoing corneal transplants indicates that subtle differences between men and women may lead to poorer outcomes for a woman who has received a cornea from a male donor.

14 Jul 2016

JAX researchers find precise, reliable way to identify leukemia cells of origin

Every cancer starts with a single cell, and Jackson Laboratory researchers have found a precise and reliable way -- whole-genome profiling of open chromatin -- to identify the kind of cell that leads to a given case of leukemia, a valuable key to cancer prognosis and outcome.

11 Jul 2016

Study finds microRNA let-7 plays key role in restricting neuroblastoma

Great strides have been made in treating neuroblastoma, the most common cancer in infants and toddlers. However, advanced cases are often fatal, and children who survive often face life-long physical and intellectual challenges related to their treatment.

8 Jul 2016

New genetic test provides rapid diagnosis of mitochondrial disease

Newcastle researchers have developed a genetic test providing a rapid diagnosis of mitochondrial disorders to identify the first patients with inherited mutations in a new disease gene.

7 Jul 2016

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.

6 Jul 2016

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.

6 Jul 2016

LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

LouLou Foundation and the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania are pleased to announce the award of 11 new research grants into CDKL5 deficiency - a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

5 Jul 2016

Novel technique could help discover genes linked to complex traits in any animal model

Mice are one of the most commonly used laboratory organisms, widely used to study everything from autism to infectious diseases. Yet genomic studies in mice have lagged behind those in humans.

4 Jul 2016

Mitochondrial DNA levels may represent accurate, predictive measure of embryo viability in IVF

Despite the claims and counter-claims for new embryo assessment techniques introduced over the past two decades, the search for the holy grail of assisted reproduction - the key to the embryo destined to implant - continues.

4 Jul 2016

Study links proteins involved in cell division to insulin signaling

Proteins that play key roles in the timing of cell division also moonlight in regulating blood sugar levels, UT Southwestern Medical Center researchers have found.

1 Jul 2016

Study sheds more light on how bacteria rapidly causes infectious diseases

Researchers at Umea University are first to discover that bacteria can multiply disease-inducing genes which are needed to rapidly cause infection.

1 Jul 2016

Scientists discover new way to predict risk for delayed recovery in children with AML

The chemotherapy treatments necessary to treat Acute Myeloid Leukemia (AML) in children can be grueling on the body, and can cause health-related complications during therapy, as well as long down the road after remission.

1 Jul 2016

Kataegis linked to better prognosis for breast cancer patients

Kataegis is a recently discovered phenomenon in which multiple mutations cluster in a few hotspots in a genome. The anomaly was previously found in some cancers, but it has been unclear what role kataegis plays in tumor development and patient outcomes.

1 Jul 2016

Researchers determine how Ki-67 protein disperses chromosomes in dividing cells

Billions of your cells divide every day. Cell division fuels growth and also replaces short-lived cells in some organs, like your skin, blood, and gut.

30 Jun 2016

Study focuses on critical proteins involved in ovarian cancer biology

In what is believed to be the largest study of its kind, scientists at the Pacific Northwest National Laboratory, Johns Hopkins University and their collaborators from institutions across the nation have examined the collections of proteins in the tumors of 169 ovarian cancer patients to identify critical proteins present in their tumors.

30 Jun 2016