Category Archives: Human Genetics

For many women particularly those who are older, pregnant or overweighta sudden sneeze or laugh can trigger a squirt of urine. And forget about jumping jacks. Thanks to a genome-wide association study (GWAS) that identifies a gene that may contribute to stress urinary incontinence (the sneezing kind) or even the less common urge incontinence(aka overactive bladder), women may be able to add a re-purposed drug or two to the list of gadgets, medications, and procedures that can lower leak frequency. The best way to minimize stress incontinence, is to do Kegel exercises, which contract the pelvic floor muscles. Also helpful is the bridge pose in Pilates (head and feet down, abdomen up). Wearing absorbent pads may work, as can losing weight and avoiding foods and drinks that promote peeing. Of course, there are appsfor leaks. iDry, BladderPal, and Kegel Kat chart trips to the bathroom, schedule Kegel reminders,or, in one app that Charmin sponsors, locate the nearest restroom. Devices to treat urinary incontinence are held in the vagina to keep things in place, and resemble certain sexual aids that somewhat rhyme with mildew. Advertisements for one FDA-approved product that signals the bladder not to spasm proclaims itselfa trip to the … Continue reading →

Sessions/Tracks ConferenceSeries LLC provides the perfect platform for global networking and we are truly delighted to invite you to attend our 9thInternational Conference on Genomics & Pharmacogenomics, during June 15-16, 2017London, UK. Genomics-2017 is a global platform to discuss and learn about Genomics & Pharmacogenomics and its allied areas Bioinformatics, Transcriptomics, Biotechnology, Molecular Biology, Molecular Genetics and Genetic Engineering. Track 1:Cancer Genomics TumorGenomicsis the investigation ofhereditarytransformationsin charge of malignancy, utilizinggenomesequencingandbioinformatics. Diseasegenomicsis to enhance growth treatment and results lies in figuring out which sets of qualities and quality associations influence diverse subsets of tumors. UniversalCancer GenomeConsortium (ICGC) is a deliberate experimental association that gives a discussion to joint effort among the world's driving growth andgenomic analysts. RelatedConferences: 5th InternationalConference on Integrative BiologyJune 19-21, 2017 London, UK; InternationalConference onGenetic Counseling and Genomic Medicine,December 07-08, 2016 Madrid, Spain; 9th InternationalConference on Genomics and PharmacogenomicsJuly 13-14, 2017 Chicago, USA;Conference onSynthetic Biology: Engineering, Evolution & Design (SEED), June 20-23, 2017 Hyatt Regency, Vancouver, British Columbia, Canada. 28th Annual Lorne Genomics Conference 2017 February 12-14, 2017 Mantra Lorne, Victoria, Australia. 29th Fungal Genetics conference March 14-19, 2017 Pacific Grove, CA Related Societies: Canadian Association of Genetic Counsellors, Canada. European Cytogeneticists Association, Europe. Human Genome Organisation, South … Continue reading →

Human Genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes can be the common factor of the qualities of most human-inherited traits. Study of human genetics can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life. This article describes only basic features of human genetics; for the genetics of disorders please see: Medical genetics. Inheritance of traits for humans are based upon Gregor Mendel's model of inheritance. Mendel deduced that inheritance depends upon discrete units of inheritance, called factors or genes.[1] Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)they are called "dominant" because a single copyinherited from either parentis enough to cause this trait to appear. This often means that one of the parents must also have the same trait, unless it has arisen due to an unlikely new mutation. Examples of autosomal dominant traits and disorders are Huntington's disease and achondroplasia. Autosomal recessive traits is one pattern of … Continue reading →

The Department of Human Genetics is the home within the Division of Biological Sciences for the study of basic principles of genetics and genomics as applied to human disease. We provide broad training in experimental genetics and genomics, statistical and population genetics, bioinformatics, and clinical genetics. A common theme throughout our research is the application of basic genetic principles and strategies to the study of disease mechanism, disease susceptibility, and the genetic architecture of complex traits. Our faculty bridge between basic and clinical research and train students for careers in academia, industry, and medicine. The Department of Human Genetics has an unwavering commitment to diversity, inclusion, free expression, and open discourse.These values are at the core of our roles as scientists, as teachers, and as citizens of a free society. Science, including genetics, plays a central role in many crucial issues of our time. We are committed to generating rigorous scientific knowledge, training future scientists, and preparing our students to be well-informed citizens in a democratic society. Read more: Department of Human Genetics | The University of Chicago … Continue reading →

HHS takes steps to provide more information about clinical trials to the public In an effort to make information about clinical trials widely available to the public, the U.S. Department of Health and Human Services (HHS) has issued a final rule specifying the requirements for registering and reporting summary results information to ClinicalTrials.gov. The new rule expands the legal requirements for submitting results. NIH also has issued a complementary policy for submitting summary results information for all NIH-funded clinical trials. New NIH grants will fund developing computational approaches to finding the differences in DNA that make people susceptible to disease. The awards, totaling around $11.1 million, support research in identifying these differences - or genetic variants - in the less-studied regions of the genome. Understanding these variants should provide clues to understanding how disease develops. NHGRI has found a new syndrome characterized by intellectual disability, hearing loss, abnormal sexual development and birth defects. It is caused bynew mutations inCHD4, which regulates how DNA is packaged and how RNA copies gene sequences during development. Using "gene-matching" to connect scientists interested in the same gene, researchers found the first three cases. Read about it in the American Journal of Human Genetics. In … Continue reading →

The Department of Human Genetics is dedicated to basic scientific research in human genetics and genetic disease, as well as the training of the next generation of scientists and health care providers. Our faculty explore three broad areas of human genetics: molecular genetics, genetic disease, and statistical/population genetics. Within molecular genetics, research groups study DNA repair and recombination, genome instability, gene function and regulation, epigenetics, RNA modification and control, and genomic systems. Research in human genetic disease emphasizes the genetics of development, neurogenetics, stem cell biology, medical genetics, reproductive sciences, and the genetics of cancer. Evolutionary and population genetics research includes statistical tools for genetics, genetic epidemiology, and genetic mapping of complex traits and diseases. We invite you to explore our faculty, students, graduate programs, courses, and events/seminars. Wildschutte JH, Williams ZH, Montesion M, Subramanian RP, Kidd JM, Coffin JM. Discovery of unfixed endogenous retrovirus insertions in diverse human populations. Published online PNAS March 21, 2016 http://www.pnas.org/content/early/2016/03/16/1602336113 Iwase S, Brookes E, Agarwal S, Badeaux AI, Ito H, Vallianatos CN, Tomassy GS, Kasza T, Lin G, Thompson A, Gu L, Kwan KY, Chen C, Sartor MA, Egan B, Xu J, Shi Y. A mouse model of X-linked intellectual disability associated with … Continue reading →

Track 1:Cellular and Molecular Genetics The study of genetics at the level of the basic building blocks of cells and at the DNA level. Cells are as complex as they are tiny and much is still unknown about the inner workings of these building blocks of life. If you'd like to log hours in a lab and use advanced equipment to help advance the understanding of how cells work, studies in cellular and molecular biology could be for you. Biology is the study of living things, and cellular or molecular biology studies living things on the smallest possible scale. To prepare for a career in cellular or molecular biology, individuals must have a strong understanding of chemistry, statistics and physics. The research of cellular and molecular biologists is integral to things like the development of new medications, the protection of aquatic ecosystems and the improvement of agricultural products. A student pursuing an undergraduate or graduate degree in cellular and molecular Genetics spends time divided between classroom lectures and practical laboratory instruction. Research is an important part of this field, and students must be comfortable using highly advanced pieces of equipment to conduct experiments. In addition, cellular and molecular biology programs … Continue reading →

Y.W. Kans pioneering research into the hemoglobinopathies sickle cell anemia and thalassemia has widely impacted genetic research, diagnostics, and treatment of human disease. The Institute for Human Genetics is proud to recognize Y.W. Kan with a symposium honoring his decades-long contributions. Y.W. Kan arrived at UCSF in the 1970s when he and many others (including Herb Boyer and Bishop & Varmus) helped usher in the era of molecular genetics. With long-time collaborator Andre Dozy, he discovered the first polymorphism in human DNA by Southern blot analysis in 1978, launching the ability to map genes on human chromosomes. He and another long-time collaborator, Judy Chang, used those same techniques in 1979 to show how missing genes cause disease. He is the recipient of many national and international awards for his contributions. He continues to investigate the treatment of these diseases using stem cell and iPS cell therapies. The Symposium will feature presentations from James Gusella, Katherine High, Dennis Lo, Bertram Lubin, Robert Nussbaum, Stuart Orkin, and Griffin Rodgers. Stuart Orkin will be featured as the 2015 Charles J. and Lois B. Epstein Visiting Professor. Featured topics will includegene mapping, gene therapy, hemoglobinopathies, and non-invasive prenatal testing. The IHG Symposium will be … Continue reading →

Most Recent The personal genomics firm is ramping up its suite of disease-related genetic tests. 0 Comments In a small study of male twins, nine methylation sites helped researchers predict a persons sexual orientation. 0 Comments Duplication of copy number variants may be the source of greatest diversity among people, researchers find. 1 Comment By Bob Grant | July 23, 2015 Two genetic studies seeking to determine how people first migrated to North and South America yield different results. 1 Comment Researchers link variations in two genes to cases of major depressive disorder in two large cohorts. 1 Comment By Anna Azvolinsky | July 15, 2015 Scientists identify a human leukocyte antigen gene linked to immune protection from HIV following vaccination. 1 Comment A large-scale genome sequencing effort identifies mutations with disease-causing potential at higher rates than expected. 3 Comments By Anna Azvolinsky | June 5, 2015 Somatic mosaicism may be responsible for a larger proportion of genomic variability within humans than previously thought. 2 Comments By Ruth Williams | May 28, 2015 Sequence analysis of Egyptian, Ethiopian, and non-African peoples indicates a likely route taken by modern humans migrating out of Africa. 1 Comment By Ruth Williams | May … Continue reading →

The Department of Human Genetics is the youngest basic science department in the Geffen School of Medicine at UCLA. When the Department was launched just prior to the sequencing of the human genome, it was clear that the practice of genetics research would be forever changed by the infusion of massive amounts of new data. Organizing and making sense of this genomic data is one of the greatest scientific challenges ever faced by mankind. The knowledge generated will ultimately transform medicine through patient-specific treatments and prevention strategies. The Department is dedicated to turning the mountains of raw genetic data into a detailed understanding of the molecular pathogenesis of human disease. The key to such understanding is the realization that genes not only code for specific proteins, but they also control the temporal development and maturation of every living organism through a complex web of interactions. Housed in the new Gonda Research Center, the Department serves as a focal point for genetics research on the UCLA campus, with state of the art facilities for gene expression, sequencing, genotyping, and bioinformatics. In addition to its research mission, the Department offers many exciting training opportunities for graduate students, postdoctoral fellows, and medical residents. … Continue reading →