Chromosome News and Research

Latest Chromosome News and Research

Whole genome sequencing could become prenatal standard of care

Whole genome sequencing of the DNA code of prenatal samples accurately and quickly identifies the location of chromosomal abnormalities, and could become a prenatal standard of care, researchers propose.

9 Nov 2012

Study on genetic capacity of diverse populations to make critical PUFAs

World-renowned scientists are taking what they've learned from their multicenter research collaboration studying the health impact of fatty acids on diverse populations to set up a genetics center in India.

8 Nov 2012

Studies provide first clues of balanced de novo chromosomal rearrangements

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco.

8 Nov 2012

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety -- but not intelligence -- is linked to poorer adaptive behaviors, such as self-care and communication skills, that affect daily life. The developmental syndrome, which is associated with a constellation of physical, cognitive and psychiatric problems, usually is apparent at birth or early childhood, and leads to lifelong challenges.

6 Nov 2012

Dysregulation of CISTR-ACT causes brachydactyly type E

The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers).

6 Nov 2012

Pfizer receives FDA approval for Synribo to treat chronic myelogenous leukemia

The U.S. Food and Drug Administration today approved Synribo (omacetaxine mepesuccinate) to treat adults with chronic myelogenous leukemia (CML), a blood and bone marrow disease.

29 Oct 2012

FDA accepts ARIAD’s ponatinib NDA for filing

ARIAD Pharmaceuticals, Inc. today announced that the U.S. Food and Drug Administration (FDA) has accepted for filing the New Drug Application (NDA) for accelerated review of ARIAD's investigational BCR-ABL inhibitor, ponatinib, in patients with resistant or intolerant chronic myeloid leukemia (CML) or Philadelphia-chromosome positive acute lymphoblastic leukemia (Ph+ ALL).

25 Oct 2012

Two papers connect lncRNAs to inherited conditions in humans

LncRNAs are long non-coding RNAs that are emerging as important regulators of gene expression in biological processes and diseases. In this issue of the Journal of Clinical Investigation, two papers connect lncRNAs to inherited conditions in humans.

25 Oct 2012

Paper details new target for anti-cancer drug development

In a new paper released today in Nature, BioFrontiers Institute scientists at the University of Colorado Boulder, Tom Cech and Leslie Leinwand, detailed a new target for anti-cancer drug development that is sitting at the ends of our DNA.

25 Oct 2012

UNM Cancer Center scientist to continue histone modification study

While every one of our cells contains all of our genetic information, each type of cell uses only specific parts of that information to make its proteins. Uncovering more about the mechanism that directs which particular pieces of genetic information the cell uses is the research focus of Mary Ann Osley, PhD, University of New Mexico Professor of Molecular Genetics and Microbiology and Co-Leader of the Cancer Biology and Biotechnology Program at the UNM Cancer Center.

24 Oct 2012

Pancreatic cancer risk linked to differences in telomeres' length in blood cells

A new study shows that a blood marker is linked to pancreatic cancer, according to a study published today by scientists at the University of Wisconsin Carbone Cancer Center and Mayo Clinic.

24 Oct 2012

Reprogrammed endothelial cells for treatment of vascular disorders

A research team at Weill Cornell Medical College has discovered a way to utilize diagnostic prenatal amniocentesis cells, reprogramming them into abundant and stable endothelial cells capable of regenerating damaged blood vessels and repairing injured organs.

19 Oct 2012

Lipid droplets play an unexpected role in embryo development

Histones are proteins needed to assemble DNA molecules into chromosomes. They have long represented a classic balancing act in biology; too few histone molecules result in DNA damage, while too many histones are toxic to the cell. New research at the University of Rochester is causing a fundamental shift in the concept of histone balance and the mechanism behind it.

19 Oct 2012

Study identifies new risk factors for bladder cancer

Low depressive symptoms and a longer telomere length are compelling factors that contribute to a prolonged life for bladder cancer patients according to researchers at The University of Texas MD Anderson Cancer Center.

19 Oct 2012

METASTROKE refines genetic stroke culprits

An analysis from the METASTROKE collaboration confirms an increased stroke risk associated with four previously reported genetic loci and shows that these are specific to certain stroke subtypes.

15 Oct 2012

Chromosome 3p21.1 locus contains common genetic risk for bipolar disorder

One of the biggest challenges in psychiatric genetics has been to replicate findings across large studies. Scientists at King's College London, Institute of Psychiatry have now performed one of the largest ever genetic replication studies of bipolar affective disorder, with 28,000 subjects recruited from 36 different research centers. Their findings provide compelling evidence that the chromosome 3p21.1 locus contains a common genetic risk for bipolar disorder, the PBRM1 gene.

15 Oct 2012

METASTROKE refines genetic stroke culprits

An analysis from the METASTROKE collaboration confirms an increased stroke risk associated with four previously reported genetic loci and shows that these are specific to certain stroke subtypes.

12 Oct 2012

Brown University, UCI researchers create Drosophila fruit fly model of epilepsy

In a newly reported set of experiments that show the value of a particularly precise but difficult genetic engineering technique, researchers at Brown University and the University of California-Irvine have created a Drosophila fruit fly model of epilepsy to discern the mechanism by which temperature-dependent seizures happen.

12 Oct 2012

NRG1 gene plays an important role in cannabis dependence

A paper by Shizhong Han and colleagues in the current issue of Biological Psychiatry implicates a new gene in the risk for cannabis dependence. This gene, NRG1, codes for the ErbB4 receptor, a protein implicated in synaptic development and function.

12 Oct 2012

Genetic basis of uterine fibroids uncovered

A mutation located near the fatty acid synthase gene is associated with an increased predisposition for uterine leiomyomata or fibroids, suggest US study findings.

8 Oct 2012