Category Archives: Human Genetics

Dive into Human Genetics . , (), . - . By: stasundr … Continue reading →

Contact Information Available for logged-in reporters only Newswise (NEW YORK April 24) A substantial proportion of risk for developing autism spectrum disorders (ASD), resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at Mount Sinai, who conducted a broad study of almost 2,500 families in the United States and throughout the world. The study, titled Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders, was first published online in The American Journal of Human Genetics on April 24. ASD affects about one percent of the population in the United States and is characterized by impairments in social interaction and communication, as well as by repetitive and restricted behaviors. ASD ranges from mild to severe levels of impairment, with cognitive function among individuals from above average to intellectual disability. Previously, ASD has been shown to be highly inheritable, and genomic studies have revealed that that there are various sources of risk for ASD, including large abnormalities in whole chromosomes, deletions or duplications in sections of DNA called copy number variants (CNVs), and even changes of single nucleotides (SNVs) within a gene; genes contain instructions to produce proteins that … Continue reading →

PUBLIC RELEASE DATE: 24-Apr-2014 Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine HOUSTON (April 24, 2014) A team of international scientists led by Baylor College of Medicine has discovered a novel gene (CLP1) associated with a neurological disorder affecting both the peripheral and central nervous systems. Together with scientists in Vienna they show that disturbance of a very basic biological process, tRNA biogenesis, can result in cell death of neural progenitor cells. This leads to abnormal brain development and a small head circumference as well as dysfunction of peripheral nerves. The study published today in the current issue of the journal Cell. "This is the first human disorder associated with the gene CLP1," said Dr. Ender Karaca, post-doctoral associate in the department of molecular and human genetics at Baylor. The gene find is significant because CLP1 has a role in RNA processing and has important implications for genomic approaches to Mendelian disease and for our understanding of human biology and brain development, Karaca said. Karaca's work with families of this rare disorder began many years ago during his residency training as a clinical geneticist in Turkey. A chance meeting with Dr. James R. Lupski, the Cullen Professor and Vice … Continue reading →

Contact Information Available for logged-in reporters only Newswise (SALT LAKE CITY)A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases, U of U researchers and their colleagues report in a new study in The American Journal of Human Genetics. The software, Phevor (Phenotype Driven Variant Ontological Re-ranking tool), identifies undiagnosed illnesses and unknown gene mutations by analyzing the exomes, or areas of DNA where proteins that code for genes are made, in individual patients and small families. Sequencing the genomes of individuals or small families often produces false predictions of mutations that cause diseases. But the study, conducted through the new USTAR Center for Genetic Discovery at the U of U, shows that Phevors unique approach allows it to identify disease-causing genes more precisely than other computational tools. Mark Yandell, Ph.D, professor of human genetics, led the research. He was joined by co-authors Martin Reese, Ph.D., of Omicia Inc., an Oakland, Calif., genome interpretation software company, Stephen L. Guthery, M.D., professor of pediatrics who saw two of the cases in clinic, a colleague at the MD Anderson Cancer Center in Houston, and other U of U … Continue reading →

PUBLIC RELEASE DATE: 22-Apr-2014 Contact: Phil Sahm phil.sahm@hsc.utah.edu 801-581-2517 University of Utah Health Sciences (SALT LAKE CITY)A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases, U of U researchers and their colleagues report in a new study in The American Journal of Human Genetics. The software, Phevor (Phenotype Driven Variant Ontological Re-ranking tool), identifies undiagnosed illnesses and unknown gene mutations by analyzing the exomes, or areas of DNA where proteins that code for genes are made, in individual patients and small families. Sequencing the genomes of individuals or small families often produces false predictions of mutations that cause diseases. But the study, conducted through the new USTAR Center for Genetic Discovery at the U of U, shows that Phevor's unique approach allows it to identify disease-causing genes more precisely than other computational tools. Mark Yandell, Ph.D, professor of human genetics, led the research. He was joined by co-authors Martin Reese, Ph.D., of Omicia Inc., an Oakland, Calif., genome interpretation software company, Stephen L. Guthery, M.D., professor of pediatrics who saw two of the cases in clinic, a colleague at the MD Anderson Cancer Center in … Continue reading →

Human Genetics and Personalized Medicine, Dr. David Cox Human Genetics, Personalized Medicine and Improved Health Outcomes: Hype or Reality? Dr. David Cox, Senior Vice President and Chief Scientific Officer Biothe... By: Linus Pauling Memorial Lecture Series … Continue reading →

Research assistant Natalie Thomas pulls a slice of a cancerous tumor for analysis at the Anschutz Medical Campus. (Andy Cross, The Denver Post) Ellen Smith received a death sentence for her advanced lung cancer five years ago, but it was commuted by a revolution in human genetics, drug therapies and clinical approaches unfolding at the University of Colorado Hospital. The advances have saved her life, by her reckoning, four times. The accelerating speed of DNA sequencing, drug development and data analysis has led UCHealth, the University of Colorado Medical School and Children's Hospital Colorado to join in an effort to fundamentally change the way they care for patients. The partnership will invest more than $63 million over the next five years to create a new division, adding clinicians, genetic counselors, researchers and advanced practice nurses and also expanding a DNA bank and advanced data warehouse. It's called the Center for Personalized Medicine and Biomedical Informatics. The pioneering field of personalized medicine uses molecular analysis to determine a patient's predisposition to developing certain diseases and to deliver tailored medical treatment. "There is no doubt in my mind that this will change how we treat disease, how we teach our students, how … Continue reading →

PUBLIC RELEASE DATE: 17-Apr-2014 Contact: Marjorie Montemayor-Quellenberg mmontemayor-quellenberg@partners.org 617-525-6383 Brigham and Women's Hospital Boston, MA When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in clinical and research reports. Now a study by researchers at Brigham and Women's Hospital (BWH) proposes a new classification system that may standardize how structural chromosomal rearrangements are described. Known as Next-Gen Cytogenetic Nomenclature, it is a major contribution to the classification system to potentially revolutionize how cytogeneticists worldwide translate and communicate chromosomal abnormalities. The study will be published online April 17, 2014 in The American Journal of Human Genetics. "As scientists we are moving the field of cytogenetics forward in the clinical space," said Cynthia Morton, PhD, BWH director of Cytogenetics, senior study author. "We will be able to define chromosomal abnormalities and report them in a way that is integral to molecular methods entering clinical practice." According to the researchers, advances in next-generation sequencing methods and results from BWH's Developmental Genome Anatomy Project (DGAP) revealed an assortment of genes disrupted and dysregulated in human development in over 100 … Continue reading →

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in clinical and research reports. Now a study by researchers at Brigham and Women's Hospital (BWH) proposes a new classification system that may standardize how structural chromosomal rearrangements are described. Known as Next-Gen Cytogenetic Nomenclature, it is a major contribution to the classification system to potentially revolutionize how cytogeneticists worldwide translate and communicate chromosomal abnormalities. The study will be published online April 17, 2014 in The American Journal of Human Genetics. "As scientists we are moving the field of cytogenetics forward in the clinical space," said Cynthia Morton, PhD, BWH director of Cytogenetics, senior study author. "We will be able to define chromosomal abnormalities and report them in a way that is integral to molecular methods entering clinical practice." According to the researchers, advances in next-generation sequencing methods and results from BWH's Developmental Genome Anatomy Project (DGAP) revealed an assortment of genes disrupted and dysregulated in human development in over 100 cases. Given the wide variety of chromosomal abnormalities, the researchers recognized that more accurate and … Continue reading →

Human genetics is the branch that studies the aspect of 'inheritance' in formation of human beings. Its study makes it easier to understand the cause of certain disorders, behavioral issues and development. Inherited Traits in Humans There are so many inherited traits in humans that we can talk about, that you'd be really surprised. Through this Buzzle article, we will take you through some of the most interesting factors about inherited genes that you might... The Importance of Housekeeping Genes Housekeeping genes are those that are always expressed in all cells of an organism, and are important for the maintenance of basic or 'housekeeping' functions of the cell. This Buzzle write-up provides a brief account of the same. Pros and Cons of Gene Patenting Gene patenting is quite common in the medical field today, however, it is still surrounded by many controversies. In this Buzzle article, we will discuss what is gene patenting and what are its positive and negative aspects. Pros and Cons of Designer Babies Designer babies are babies, whose genetic makeup has been artificially screened and chosen by scientists, via genetic engineering. This concept has raised numerous ethical issues. Let's have a look at the pros and … Continue reading →