Chromosome News and Research

Latest Chromosome News and Research

Emory researchers complete detailed maps of 184 duplications found in genomes

Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders. Still, geneticists can definitively say how a CNV, once discovered in someone's DNA, leads to one of these conditions in just a fraction of cases.

31 Jan 2015

Damon Runyon Cancer Research Foundation names 15 new Damon Runyon Fellows

The Damon Runyon Cancer Research Foundation, a non-profit organization focused on supporting innovative early career researchers, named 15 new Damon Runyon Fellows at its fall Fellowship Award Committee review. The recipients of this prestigious, four-year award are outstanding postdoctoral scientists conducting basic and translational cancer research in the laboratories of leading senior investigators across the country.

31 Jan 2015

Scientists publish catalog of genetic mutations found in head and neck cancers

Scientists have published the first comprehensive catalog of genetic mutations and other abnormal changes found in 279 cancers of the head and neck, and have identified several broken molecular pathways that might be targeted by existing and future cancer drugs.

28 Jan 2015

Lund researchers find new way to identify malignant tumours in children

A research group at Lund University in Sweden has found a new way to identify the most malignant tumours in children. The method involves studying genetic 'micro-variation', rather than the presence of individual mutations.

28 Jan 2015

Researchers develop new treatment that extends telomeres

Will extending telomeres lead to longer, healthier lives? Researchers have taken an important step toward answering this question by developing a new treatment used in the laboratory that extends telomeres.

24 Jan 2015

UAB Research Probes Molecular Basis Of Rare Genetic Disorder

An international group co-led by University of Alabama at Birmingham researcher Mary MacDougall, Ph.D., has unraveled the molecular basis for the rare, inherited genetic disorder, Singleton-Merten Syndrome (SMS). Individuals with SMS develop extreme, life-threatening calcification of the aorta and heart valves, early-onset periodontitis and root resorption of the teeth, decreases in bone density, and loss of bone tissue at the tips of fingers and toes.

23 Jan 2015

Cypher Genomics, Sequenom sign development agreement for noninvasive prenatal tests

Cypher Genomics, Inc., the leading genome informatics company, and Sequenom, Inc., the leading molecular diagnostics company, today announced a development agreement for next generation noninvasive prenatal tests (NIPT).

22 Jan 2015

Study identifies gene that may become resistant to current testicular cancer treatments

A major research study has uncovered several new genetic mutations that could drive testicular cancer - and also identified a gene which may contribute to tumours becoming resistant to current treatments.

22 Jan 2015

ASCB honors UTSA adjunct professor with E. B. Wilson Medal

William Brinkley, adjunct professor of biology in the UTSA College of Sciences, was recently honored with the E. B. Wilson Medal from the American Society for Cell Biology. The medal, the organization's highest honor for far-reaching contributions to cell biology over a lifetime in science, was presented to Brinkley at the 54th Annual Meeting in Philadelphia.

22 Jan 2015

Researchers gain new insight into fragile X syndrome

Scientists have gained new insight into fragile X syndrome -- the most common cause of inherited intellectual disability -- by studying the case of a person without the disorder, but with two of its classic symptoms.

17 Jan 2015

TERT mutations may make smokers more susceptible to emphysema

Mutations in a gene that helps repair damaged chromosome ends may make smokers — especially female smokers — more susceptible to emphysema, according to results of a new study led by Johns Hopkins Kimmel Cancer Center researchers.

14 Jan 2015

PF-114 shows promise in therapy-resistant CML, Ph-positive ALL

PF-114, a selective tyrosine kinase inhibitor, is active against native and mutated forms of the BCR–ABL oncogene in Philadelphia chromosome-positive leukaemias, according to preclinical cellular and in vivo results published in Leukemia.

12 Jan 2015

Blast phase characteristics differ in TKI-, non-TKI–treated CML patients

Features of the blast phase, such as blast cell morphology and accompanying cytogenetic changes, vary between chronic myeloid leukaemia patients who received tyrosine kinase inhibitor therapy and those treated in the pre-TKI era, research shows.

12 Jan 2015

Study finds difference between results from IHC and quantitative molecular techniques

The cause of type 1 diabetes remains unknown. Several studies using immunohistochemistry (IHC) have independently reported hyperexpression of human leukocyte antigen (HLA) class I on pancreatic islet cells in young patients with recent-onset type 1 diabetes. Investigators have therefore suggested that HLA hyperexpression may be an important first step in the development of type 1 diabetes.

12 Jan 2015

New research sheds light on process that controls genes and determines cell fate

For a skin cell to do its job, it must turn on a completely different set of genes than a liver cell — and keep genes it doesn’t need switched off. One way of turning off large groups of genes at once is to send them to “time-out” at the edge of the nucleus, where they are kept quiet. New research from Johns Hopkins sheds light on how DNA gets sent to the nucleus’ far edge, a process critical to controlling genes and determining cell fate.

7 Jan 2015