Chromosome News and Research

Latest Chromosome News and Research

Converting blood cells to a stem cell state: an interview with Elias Zambidis, M.D., Ph.D.

The primitive stem cell state we created is called an “induced pluripotent stem cell” (iPSC). iPSC are a new, unique, and artificially-created type of stem cell that were first described in 2006 by a Japanese scientist named Shinya Yamanaka.

4 Sep 2012

Concentration increase of HUWE1 protein leads to intellectual disability

2 to 3 % of the children are born with an intellectual disability. Possibly by a genetic defect, but in 80% of these cases, we do not know - yet - which genes are responsible. VIB researchers at KU Leuven show that increased production of the HUWE1 protein is the cause in some patients.

31 Aug 2012

Researchers identify several genetic factors linked to C-reactive protein

African Americans have higher blood levels of a protein associated with increased heart-disease risk than European Americans, despite higher "good" HDL cholesterol and lower "bad" triglyceride levels. This contradictory observation now may be explained, in part, by a genetic variant identified in the first large-scale, genome-wide association study of this protein involving 12,000 African American and Hispanic American women.

31 Aug 2012

Scientists establish genetic mouse model for primary ovarian insufficiency

Scientists have established a genetic mouse model for primary ovarian insufficiency (POI), a human condition in which women experience irregular menstrual cycles and reduced fertility, and early exposure to estrogen deficiency.

31 Aug 2012

Quest Diagnostics announces availability of TERC test for cervical cancer

Quest Diagnostics, the world's leading provider of diagnostic testing, information and services, today announced the availability of a new laboratory test that identifies molecular changes to cervical cells that increase the likelihood a woman may develop cervical cancer.

From Quest Diagnostics 31 Aug 2012

Oral lesion progression markers validated, discovered

Loss of heterozygosity can reliably differentiate between individuals with premalignant oral lesions who are likely to progress to oral carcinoma, and those who are not, show study results.

30 Aug 2012

CNIO team generates transgenic mouse model for aplastic anaemia associated with short telomeres

Aplastic anaemia is characterised by a reduction in the number of the bone marrow cells that go on to form the different cell types present in blood (essentially red blood cells, white blood cells and platelets). In most cases, the causes of the disorder are hard to determine, but some patients have been found to have genetic alterations leading to a shortening of their telomeres (the end regions of chromosomes that protect and stabilise DNA).

30 Aug 2012

FISH assay identifies only few lung cancer patients who could benefit from crizotinib

Break apart a couple worm-like chromosomes and they may reconnect with mismatched tips and tails - such is the case of the EML4-ALK fusion gene that creates 2-7 percent of lung cancers. Almost exactly a year ago, the FDA approved the drug crizotinib to treat these ALK+ lung cancer patients, who were likely never smokers. Informed doctors use the test called a FISH assay to check for the EML4-ALK fusion gene, and then if the test is positive, ALK+ patients benefit greatly from crizotinib.

29 Aug 2012

$Fetal fraction of cfDNA does not vary significantly among pregnant women regardless of trisomy risk$

Fetal fraction of cfDNA does not vary significantly among pregnant women regardless of trisomy risk

A study published in The Journal of Maternal-Fetal and Neonatal Medicine demonstrates that the fraction of fetal cell-free DNA (cfDNA) in maternal blood is unaffected by the mother's presumed risk for trisomy, offering support for the use of non-invasive prenatal testing (NIPT) for detecting genetic conditions such as Down syndrome in a broad patient population.

28 Aug 2012

People with guanine version of rs55705857 SNP more likely to develop gliomas

People who carry a "G" instead of an "A" at a specific spot in their genetic code have roughly a six-fold higher risk of developing certain types of brain tumors, a Mayo Clinic and University of California, San Francisco study has found. The

27 Aug 2012

The Wistar Institute, MSKCC partner to publish first annotated atlas of Epstein-Barr virus genome

Researchers from The Wistar Institute and Memorial Sloan-Kettering Cancer Center (MSKCC) have teamed to publish the first annotated atlas of the Epstein-Barr virus genome, creating the most comprehensive study of how the viral genome interacts with its human host during a latent infection. Epstein-Barr virus (EBV), which is thought to be responsible for one percent of all human cancers, establishes a latent infection in nearly 100 percent of infected adult humans.

24 Aug 2012

New method can differentiate between breast cancer patients with good and poor prognosis

It is now possible to identify aggressive breast cancers by interpreting the mathematical patterns in the cancer genome. Researchers at the University of Oslo, Norway (UiO) have developed a completely new method for differentiating between breast cancer patients with high and low risks of dying from the illness.

24 Aug 2012

MOZ protein could explain variations in severity of DiGeorge syndrome

The discovery of a 'switch' that modifies a gene known to be essential for normal heart development could explain variations in the severity of birth defects in children with DiGeorge syndrome.

24 Aug 2012

Study highlights Nek9 protein as decisive factor in cell division

A study by the Institute for Research in Biomedicine (IRB Barcelona) and the Center for Genomic Regulation (acronym in Catalan CRG) highlights the protein Nek9 as a decisive factor in cell division, a fundamental process for both the development of an organism and tissue maintenance.

22 Aug 2012

Genetic key to severe malaria resistance uncovered

Researchers have identified two genetic variants linked with human resistance to severe malaria.

21 Aug 2012

Walnuts optimize male fertility

Eating walnuts on a daily basis seems to improve the quality of men’s sperm, show study findings.

20 Aug 2012

Agilent awarded patent for comparative genomic hybridization methods

Agilent Technologies Inc. today announced that it was awarded a significant patent for comparative genomic hybridization methods. CGH methods help researchers study genetics and cancer in both basic and clinical research.

20 Aug 2012

ARIAD initiates multi-center ponatinib Phase 1/2 clinical trial for CML in Japan

ARIAD Pharmaceuticals, Inc. today announced the initiation of a multi-center Phase 1/2 clinical trial in Japan of ponatinib, the Company's investigational BCR-ABL inhibitor.

20 Aug 2012

Pyruvate kinase M2 fuels tumor growth by influencing H3 histone protein

A metabolic protein that nourishes cancer cells also activates tumor-promoting genes by loosening part of the packaging that entwines DNA to make up chromosomes, a team led by scientists at The University of Texas MD Anderson Cancer Center reports in the Aug. 16 issue of Cell.

17 Aug 2012

Walnuts provide key nutrients that may be essential in male reproductive health

Research published in the recent issue of Biology of Reproduction Papers-in-Press reports that 75 grams (approximately 2.5 ounces) of walnuts consumed per day improved sperm vitality, motility, and morphology (normal forms) in a group of healthy young men between 21-35 years of age.

17 Aug 2012