In a case believed to be a United States first, the radiology team at Lucile Packard Children’s Hospital has used prenatal magnetic resonance imaging to detect an often-misdiagnosed genetic disease. The disorder, congenital chloride diarrhea, can cause severe dehydration and serious metabolic disturbances in newborns if not treated quickly…
Researchers from four laboratories that perform diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities recently identified a previously unrecognized genetic disorder…
Shahriar Koochekpour, MD, PhD, Assistant Professor of Microbiology and Immunology, Biochemistry and Molecular Biology, and Genetics at LSU Health Sciences Center New Orleans, led research that has discovered, for the first time, a genetic mutation in African-American men with a family history of prostate cancer who are at increased risk for the disease. Dr…
The Vilcek Foundation is pleased to announce the granting of the 2010 Vilcek Prize for Biomedical Science to Dr. Alexander Varshavsky, the Howard & Gwen Laurie Smits Professor of Cell Biology at California Institute of Technology, for elucidating the process and biological significance of regulated protein degradation in living cells…
Heralding what they hope is a new era of personalized genomic medicine, experts in the US have identified the gene behind a patient’s inherited neurological disorder, in this case a form of Charcot-Marie-Tooth disease, by sequencing his complete genome. Details of the quest are published online in the 10 March issue of the New England Journal of Medicine…
Our DNA contains the information needed to produce different proteins that are the building blocks and key components of cells. Instructions to synthesize such proteins are incorporated into DNA sequences defined as genes. This precious genetic material, however, never leaves the cell’s stronghold nucleus…
Amsterdam Molecular Therapeutics (Euronext: AMT), a leader in the field of human gene therapy, announced that the first patient has been dosed in the Phase I/II exploratory clinical trial with a gene therapy product for hemophilia B, a seriously debilitating and potentially lethal disease…
About four out of every 10 cells in the brain are so-called oligodendrocytes. These cells produce the all-important myelin that coats nerve tracts, ensuring fast, energy-efficient transmission of nerve impulses…
If you can imagine identical twin sisters at rest, their breath drawing them subtly together and apart, who somehow latch onto ropes that pull them to opposite sides of the bed – you can imagine what happens to a chromosome in the dividing cell…
The Institute for Systems Biology (ISB) has analyzed the first whole genome sequences of a human family of four. The findings of a project funded through a partnership between ISB and the University of Luxembourg was published online today by Science on its Science Express website…
Scientists using advanced genomic analysis technologies from Life Technologies Corporation (NASDAQ: LIFE) have sequenced an individual’s genome and identified the specific causative mutation associated with Charcot-Marie-Tooth Disease (CMT), one of the most common inherited neurological disorders currently affecting 1 in 2,500 individuals in the United States…
Discovery of an antibiotic’s capacity to improve cell function in laboratory tests is providing movement disorder researchers with leads to more desirable molecules with potentially similar traits, according to University of Alabama scientists co-authoring a paper publishing March 10 in the journal Disease Models & Mechanisms…
Researchers at the University of Utah and other institutions have sequenced for the first time the entire genome of a family, enabling them to accurately estimate the average rate at which parents pass genetic mutations to their offspring and also identify precise locations where parental chromosomes exchange information that creates new combinations of genetic traits in their children…
By studying the hydra, a member of an ancient group of sea creatures that is still flourishing, scientists at UC Santa Barbara have made a discovery in understanding the origins of human vision. The finding is published in this week’s issue of the Proceedings of the Royal Society B, a British journal of biology. Hydra are simple animals that, along with jellyfish, belong to the phylum cnidaria…
Cancer cells in rapidly growing brain tumors must adjust to periods of low energy or die. When energy levels are high, tumor cells grow and proliferate. When levels are low, the cells grow less and migrate more. Researchers at the Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital and Richard J…
The Sam Houston State University Regional Crime Laboratory which will serve the basic needs of nearly 100 state and local law enforcement agencies from the ten counties in southeast Texas is now open, according to university officials…
Repair proteins appear to efficiently scan the genome for errors by jumping like fleas between DNA molecules, sliding along the strands, and perhaps pausing at suspicious spots, say researchers at the University of Pittsburgh, the University of Essex and the University of Vermont who tagged the proteins with quantum dots to watch the action unfold. The findings are available in Molecular Cell…
A research team led by the University of Colorado at Boulder has discovered a previously unknown cellular “switch” that may provide researchers with a new means of triggering programmed cell death, findings with implications for treating cancer…
Many women live with breast cancer that does not respond to standard medical treatment, a condition that researchers at the Virginia G. Piper Cancer Center at Scottsdale Healthcare want to change by aggressively targeting specific genes…
In a study presented at the Society for Maternal-Fetal Medicine’s (SMFM) annual meeting, The Pregnancy Meeting™ in Chicago, researchers unveiled findings that show that it is not cost effective to screen for spinal muscular atrophy. Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality and the second most common inherited autosomal recessive disorder…
Children who were exposed to acetaminophen prenatally were more likely to have asthma symptoms at age five in a study of 300 African-American and Dominican Republic children living in New York City…
This week a US federal court heard a case that may decide whether it is legal to patent human genes…
Nuclear pore complexes are best known as the communication channels that regulate the passage of all molecules to and from a cell’s nucleus. Researchers at the Salk Institute for Biological Studies, however, have shown that some of the pores’ constituent proteins, called nucleoporins, pull double duty as transcription factors regulating the activity of genes active during early development…
A novel finding, described Feb. 4 on the Science Express Web site by teams from the National Cancer Institute, The University of Texas Health Science Center at San Antonio and the University of Toronto, offers a clue as to how genes can have what you might call multiple personalities…
