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Low birth weight, preterm birth increase schizophrenia risk in individuals with 22q11.2 deletion syndrome

Low birth weight and preterm birth appear to increase the risk of schizophrenia among individuals with a genetic condition called the 22q11.2 deletion syndrome, a new study from the Centre for Addiction and Mental Health (CAMH) shows.

14 Aug 2015

Researchers identify first gene that causes common form of mitral valve prolapse

An international research collaboration led by Massachusetts General Hospital investigators has identified the first gene in which mutations cause the common form of mitral valve prolapse (MVP), a heart valve disorder that affects almost 2.5 percent of the population.

11 Aug 2015

UNC researchers show how a genetic mutation disables molecular switch and causes autism

Last December, researchers identified more than 1,000 gene mutations in individuals with autism, but how these mutations increased risk for autism was unclear. Now, UNC School of Medicine researchers are the first to show how one of these mutations disables a molecular switch in one of these genes and causes autism.

7 Aug 2015

Researchers develop new technology to track DNA-protein binding in live cells

Researchers have developed a new technology that precisely marks where groups of regulatory proteins called transcription factors bind DNA in the nuclei of live cells.

7 Aug 2015

WPI awarded NIH grant to explore ways to turn genetic tables against cancer

Taking aim at the fundamental biology of cancer cells, the National Institutes of Health has awarded $747,000 to Worcester Polytechnic Institute for a three-year research project to explore the molecular mechanisms associated with the genetic mutations and chromosome instability observed in all cancer cells.

7 Aug 2015

HHMI scientists identify stem cells that give rise to functional liver cells

Howard Hughes Medical Institute scientists have identified stem cells in the liver that give rise to functional liver cells. The work solves a long-standing mystery about the origin of new cells in the liver, which must constantly be replenished as cells die off, even in a healthy organ.

6 Aug 2015

FAU pre-medical student and surgeon work together on revolutionary procedure alternative to radical mastectomy

Elizabeth Hopkins, an aspiring physician and pre-medical student in the Charles E. Schmidt College of Science at Florida Atlantic University, has spent more than 640 hours shadowing Hilton Becker, M.D., a local plastic and reconstructive surgeon, and an affiliate professor in FAU's Charles E. Schmidt College of Medicine. Together, with Jeffrey Lind II, M.D., they authored a publication in the current issue of Plastic and Reconstructive Surgery Journal, which describes a revolutionary procedure developed by Becker that is an alternative to radical mastectomy.

4 Aug 2015

Balancing cellular aging and cancer risk through biotechnology

In a way, trying to repair age-related heart damage and trying to fight cancer are opposite problems. Your heart cells' ability to regenerate themselves and proliferate into new, young cells degrades as you get older.

30 Jul 2015

Understanding the workings of error correction mechanism in cell division

Cell biologists led by Thomas Maresca at the University of Massachusetts Amherst, with collaborators elsewhere, report an advance in understanding the workings of an error correction mechanism that helps cells detect and correct mistakes in cell division early enough to prevent chromosome mis-segregation and aneuploidy, that is, having too many or too few chromosomes.

30 Jul 2015

Oxford Gene Technology expands portfolio of fluorescence in situ hybridisation probes

Oxford Gene Technology (OGT), The Molecular Genetics Company, is extending its portfolio of Cytocell® Pathology FISH probes with the addition of eight new probes. OGT offers the widest range of fluorescence in situ hybridisation (FISH) probes on the market, delivering a cost-effective and reliable solution for anyone engaged in FISH.

From Oxford Gene Technology 28 Jul 2015

Recipients of GSA poster awards announced at 20th International C. elegans Meeting

The Genetics Society of America and the C. elegans research community are pleased to announce the recipients of the GSA poster awards at the 20th International C. elegans Meeting, which took place at the University of California, Los Angeles, June 24-28, 2015.

28 Jul 2015

Study suggests potential way to predict autism or psychosis risk in children with genetic abnormality

Doctors and researchers have long known that children who are missing about 60 genes on a certain chromosome are at a significantly elevated risk for developing either a disorder on the autism spectrum or psychosis — that is, any mental disorder characterized by delusions and hallucinations, including schizophrenia. But there has been no way to predict which child with the abnormality might be at risk for which disorder.

28 Jul 2015

Bosutinib resistance linked to ABCB1 transporter

Resistance to the tyrosine kinase inhibitor bosutinib may be mediated by overexpression of the efflux transporter ABCB1, scientists suggest.

24 Jul 2015

Rare BCR-ABL fusions highlighted in CML

Chronic myeloid leukaemia patients with rare BCR-ABL fusions may be missed by quantitative polymerase chain reaction, research suggests.

24 Jul 2015

Researchers find way to reverse clotting factor deficiency that triggers hemophilia A

Sufferers of hemophilia live in a perpetual state of stress and anxiety: their joints wear down prematurely and they have bleeding episodes that feel like they will never end. Their bodies lack the ability to make the clotting factor responsible for the coagulation of blood so any cut or bruise can turn into an emergency without immediate treatment.

24 Jul 2015

Study finds mechanism that identifies cause of intellectual disabilities in autism, Rett syndrome

The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in part caused by a mutation in the control switch gene called MeCP2.

21 Jul 2015

BUSM investigators receive MRA's Jackie King Young Investigator Awards

Boston University School of Medicine researchers Neil Joseph Ganem, PhD and Anurag Singh, PhD, each have received the Jackie King Young Investigator Awards from the Melanoma Research Alliance (MRA), the largest private funder of melanoma research. Both serve as assistant professors of pharmacology & experimental therapeutics and medicine.

17 Jul 2015

Study stresses importance of investigating telomeres to improve diagnoses, develop treatments for many diseases

Studying telomeres, the structures that protect the ends of chromosomes, has become a key issue in biology. In recent years, not only has their relation to ageing been confirmed; defective telomeres seem to be linked to more and more illnesses, including many types of cancer.

16 Jul 2015

Noninvasive prenatal screening could detect maternal cancer

A study published today in the Journal of the American Medical Association shows that genetic test results, as revealed by non-invasive prenatal testing for fetal chromosome abnormalities, may detect underlying conditions in the mother, including cancer.

15 Jul 2015

Researchers identify genetic abnormalities that lead to skin SCC

Squamous cell carcinoma (SCC) of the skin is one of the most frequent cancers in humans affecting more than half million new persons every year in the world. The transformation of a normal cell to a cancer cell is caused by an accumulation of genetic abnormalities in the progeny of single cells. The spectrum of genetic anomalies found in a variety of human cancers have been described.

14 Jul 2015

X chromosome News and Research

Low birth weight, preterm birth increase schizophrenia risk in individuals with 22q11.2 deletion syndrome

Researchers identify first gene that causes common form of mitral valve prolapse

UNC researchers show how a genetic mutation disables molecular switch and causes autism

Researchers develop new technology to track DNA-protein binding in live cells

WPI awarded NIH grant to explore ways to turn genetic tables against cancer

HHMI scientists identify stem cells that give rise to functional liver cells

FAU pre-medical student and surgeon work together on revolutionary procedure alternative to radical mastectomy

Balancing cellular aging and cancer risk through biotechnology

Understanding the workings of error correction mechanism in cell division

Oxford Gene Technology expands portfolio of fluorescence in situ hybridisation probes

Recipients of GSA poster awards announced at 20th International C. elegans Meeting

Study suggests potential way to predict autism or psychosis risk in children with genetic abnormality

Bosutinib resistance linked to ABCB1 transporter

Rare BCR-ABL fusions highlighted in CML

Researchers find way to reverse clotting factor deficiency that triggers hemophilia A

Study finds mechanism that identifies cause of intellectual disabilities in autism, Rett syndrome

BUSM investigators receive MRA's Jackie King Young Investigator Awards

Study stresses importance of investigating telomeres to improve diagnoses, develop treatments for many diseases

Noninvasive prenatal screening could detect maternal cancer

Researchers identify genetic abnormalities that lead to skin SCC

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