Category Archives: Human Genetics

Elizabeth Neufeld PhD Tribute 2014 UCLA Human Genetics Tribute to Elizabeth Neufeld PhD. By: UCLA … Continue reading →

Welcome to ASHG 2014: Inside the Life Technologies Booth Thousands packed the San Diego Convention Center this week to attend the 2014 American Society of Human Genetics annual meeting. But alas, countless others were not able to make the trip out... By: Life Technologies … Continue reading →

Contact Information Available for logged-in reporters only Newswise In a study that will provide the foundation for scientists to better replicate natural stem cell development in an artificial environment, UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research led by Dr. Guoping Fan, professor of human genetics, have established a benchmarking standard to assess how culture conditions used to procure stem cells in the lab compare to those found in the human embryo. The study was published online ahead of print in the journal Cell Stem Cell. Pluripotent stem cells (PSCs) are cells that can transform into almost any cell in the human body. Scientists have long cultured PSCs in the laboratory (in vitro) using many different methods and under a variety of conditions. Though it has been known that culture techniques can affect what kind of cells PSCs eventually become, no "gold standard" has yet been established to help scientists determine how the artificial environment can better replicate that found in a natural state (in vivo). Dr. Kevin Huang, postdoctoral fellow in the lab of Dr. Fan and a lead author of the study, analyzed data from multiple existing research studies conducted … Continue reading →

PUBLIC RELEASE DATE: 19-Oct-2014 Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety BETHESDA, MD Scientists studying birth defects in humans and purebred dogs have identified an association between cleft lip and cleft palate conditions that occur when the lip and mouth fail to form properly during pregnancy and a mutation in the ADAMTS20 gene. Their findings were presented today at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego. "These results have potential implications for both human and animal health, by improving our understanding of what causes these birth defects in both species," said Zena Wolf, BS, a graduate student at the University of California, Davis School of Veterinary Medicine. In both humans and dogs, cleft lip and cleft palate occur naturally with varying degrees of severity, and can be caused by various genetic and environmental factors. Since purebred dogs breed only with each other, there is less genetic variation to consider, making cleft lip and cleft palate easier to understand in these populations, Ms. Wolf explained. From previous studies, the researchers knew that a mutation in the dog genes DLX5 and DLX6, which are involved in face and skull development, explained 12 … Continue reading →

PUBLIC RELEASE DATE: 19-Oct-2014 Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety BETHESDA, MD A child's genetic makeup may contribute to his or her mother's risk of rheumatoid arthritis, possibly explaining why women are at higher risk of developing the disease than men. This research will be presented Tuesday, October 21, at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego. Rheumatoid arthritis, a painful inflammatory condition that primarily affects the joints, has been tied to a variety of genetic and environmental factors, including lifestyle factors and previous infections. Women are three times more likely to develop rheumatoid arthritis than men, with peak rates among women in their 40s and 50s. Certain versions of the immune system gene HLA-DRB1, known collectively as the shared epitope alleles, are associated with the condition. HLA genes are best known for their involvement in the immune system's response to infection and in transplant medicine for differentiating between one's own cells and those that are foreign. The female predilection of rheumatoid arthritis strongly suggests that factors involved in pregnancy are involved, said Giovanna Cruz, MS, graduate student at the University of California, Berkeley, and first author on the … Continue reading →

PUBLIC RELEASE DATE: 18-Oct-2014 Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety BETHESDA, MD Human geneticists have discovered that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, after the divergence of humans from ancient hominids, and likely plays an important role in disease. Their findings were presented today at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego. Researchers at the University of Washington analyzed the genomes of 2,551 humans, 86 apes, one Neanderthal, and one Denisovan. They closely examined a region of human chromosome 16 known as 16p11.2, a region prone to genetic changes in which segments of DNA are deleted or duplicated, one of the most common genetic causes of autism, schizophrenia, and other conditions. The geneticists found that certain segments of DNA in this region are repeated a variable number of times in different people and may also be associated with disease. To trace the origins of this variation, the researchers collaborated with colleagues at the University of Lausanne and the University of Bari to sequence and analyze corresponding regions of ape genomes. "When we compared the genomes of apes … Continue reading →

PUBLIC RELEASE DATE: 18-Oct-2014 Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine @bcmhouston HOUSTON -- (Oct. 18, 2014) Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston. In an online report in the Journal of the American Medical Association, the scientists led by Drs. Yaping Yang, laboratory director of the Whole Genome Laboratory at Baylor, and Christine Eng, professor of molecular and human genetics at Baylor and senior director of Baylor's Medical Genetics Laboratories, found a molecular diagnosis (meaning a genetic mutation or variation linked to a disease) in 25 percent of the large group of cases confirming in this much larger group of patients the diagnostic yield from their initial report on the first 250 cases that appeared in the New England Journal of Medicine a little more than a year ago. Eng will also present results of … Continue reading →

Joe Raedle/Getty Vast stores of DNA samples and data have been produced by the increasing pace of genetic sequencing. Early last year, three researchers set out to create one genetic data set to rule them all. The trio wanted to assemble the worlds most comprehensive catalogue of human genetic variation, a single reference database that would be useful to researchers hunting rare disease-causing genetic variants. Unlike past big data projects, which have involved large groups of scientists, this one deliberately kept itself small, deploying just five analysts. Nearly two years in, it has identified about 50million genetic variants points at which one persons DNA differs from anothers in whole-genome sequence data collected by 23other research collaborations. The group, called the Haplotype Reference Consortium, will unveil its database in San Diego, California, on 20October, at the annual meeting of the American Society of Human Genetics. Geneticists have not always been so willing to share data. But that seems to be changing. Its been surprisingly easy to bring all these data sets together, says Jonathan Marchini, a statistical geneticist at the University of Oxford, UK, and one of the consortiums leaders. There is a lot of goodwill between the people in the … Continue reading →

Human genetics : gel electrophoresis By: Petchploy Rungkamoltip … Continue reading →

Human Genetics Molecular Biology of Gene Human Genetics Molecular Biology of the Gene. By: GEBRI usc … Continue reading →