Category Archives: Human Genetics

Josh Denny Josh Denny, MD presentation "Mining Electronic Health Records to Advance Genomic Discovery" at UCSF Informatics Day 2014. By: UCSF Institute for Human Genetics … Continue reading →

The Wellcome Trust Centre has deployed a high-performance computing cluster based on Fujitsu blades, Mellanox InfiniBand and DataDirect Networks storage systems to support statistical genetics research. Designed in conjunction with OCF, a provider of high-performance computing (HPC), data management, big data storage and analytics, the cluster enables researchers to run statistical analysis on the human genome. The hardware powers applications that analyse small genetic differences across a population of 1,000 people. Fujitsu BX900 blade with Intel Ivy Bridge CPUs are used in the cluster, giving performance 2.6 times better than its predecessor, built in 2011. It boasts 1,728 cores of processing power, up from the 912 of its forerunner, with 16GB of 1866MHz memory per core compared with a maximum of 8GB per core on the older cluster of the Wellcome Trust Centre for Human Genetics (WTCHG). Robert Esnouf, head of the research computing core at WTCHG, said: If you are interested in a certain disease, you can partition the genome and analyse the genetic difference between those individuals who have a medical condition like diabetes and those that do not. Processing power limits the number of people whose DNA makeup can be analysed statistically. But the more DNA that … Continue reading →

Oldowan choppers dating to 1.7 million years ago, from Melka Kunture, Ethiopia. Its widely understood that human genetics can influence culture, but increasingly, the idea that culture can also affect genetics is gaining ground. The theory of gene-culture coevolution suggests that the cultural practices we adopt change the costs and benefits of having certain genes, explains Catharine Cross, a researcher at the University of St Andrews. A gene that is advantageous under one cultural practice is not necessarily advantageous under another. For example, yam cultivation in West Africa led to deforestation and an increase in standing water, which creates a breeding ground for mosquitoes and malaria. This meant that yam farmers with a particular genetic resistance to malaria were more likely to survive than farmers with susceptibility to malaria. Yam farmers in the region have been found to have a higher incidence of this genetic trait than nearby groupseven speakers of the same languagewho farm other crops. A recent study published in Nature Communications has suggested that stone tool-making practices among the ancestors of modern humans may have put evolutionary pressure on individuals who werent very good at communicating, helping to select for the genes that would become involved in … Continue reading →

Introduction to Human Genetics- for medical students This video lecture includes the definition of human genetics, its different branches, history, common terminologies, principle of human genetics, definition ... By: Janak Lecture Series … Continue reading →

Among the problems people with Autism spectrum disorders (ASD) struggle with are difficulties with social behavior and communication. That can translate to an inability to make friends, engage in routine conversations, or pick up on the social cues that are second nature to most people. Similarly, in a mouse model of ASD, the animals, like humans, show little interest in interacting or socializing with other mice. One drug, risperidone, works in both humans and mice with ASD to treat other symptoms of the disorder -- including repetitive behaviors--but no medication has been found to help socialization. Now researchers at UCLA have treated ASD mice with a neuropeptide--molecules used by neurons to communicate with each other--called oxytocin, and have found that it restores normal social behavior. In addition, the findings suggest that giving oxytocin as early as possible in the animal's life leads to more lasting effects in adults and adolescents. This suggests there may be critical times for treatment that are better than others. The study appears in the January 21 online edition of the journal Science Translational Medicine. Mouse models of neuropsychiatric diseases provide a platform for understanding the mechanisms behind disorders and development of new therapies, noted Daniel … Continue reading →

20.01.2015 - (idw) Universittsklinikum Heidelberg A gene that influences the communication between nerve cells has a higher mutation rate in schizophrenia patients than in healthy individuals / Previously unknown gene mutations show a functional effect in nerve cells / Parallels between genetic alterations in patients with schizophrenia and autism / Scientists from Heidelberg publish in Molecular Psychiatry Researchers from Heidelberg University Hospital have identified 10 previously unknown genetic alterations (mutations) in schizophrenia patients. The affected gene defines the blueprint for a scaffolding protein, the SHANK2 protein, which plays a determinant role in the structures connecting nerve cells (neurons). These 10 gene variants represent risk factors for schizophrenia, said Prof. Dr. Gudrun Rappold, head of the Department of Molecular Human Genetics at Heidelberg University Hospital and senior author of the article. The alterations have only been found in schizophrenia patients and are not in any healthy individuals. Mutations that are not found in healthy people could have a direct effect on the disease says Dr. Slavil Peykov, researcher and first author of the study. The results have recently been published in the renowned scientific journal Molecular Psychiatry. The protein SHANK2 is already known to Professor Rappolds research department from another standpoint: … Continue reading →

DCDC14 | The Human Genetics Historical Library: collecting for the future Karen Pierce, Cardiff University Discovering Collections, Discovering Communities 2014 was a collaborative conference hosted by The National Archives and Research Libraries UK, in partnership... By: ResearchLibrariesUK … Continue reading →

Largest study to date of rare genetic variants and asthma risk finds few associations Despite a strong suspected link between genetics and asthma, commonly found genetic mutations account for only a small part of the risk for developing the disease - a problem known as missing heritability. Rare and low frequency genetic mutations have been thought to explain missing heritability, but it appears they are unlikely to play a major role, according to a new study led by scientists from the University of Chicago. Analyzing the coding regions of genomes of more than 11,000 individuals, they identified mutations in just three genes that were associated with asthma risk. Each was associated with risk in specific ethnicities. Their findings, published in Nature Communications on Jan. 16, suggest gaps in the current understanding of asthma genetics. "Previous studies have likely overestimated the heritability of asthma," said study senior author Carole Ober, PhD, Blum-Riese Professor and chair of the Department of Human Genetics at the University of Chicago. "This could be because those estimates are based on correlations between family members that share environment as well as genes, which could inflate the heritability. Gene-environment interactions are not considered in these large scale association … Continue reading →

Kansas City, Mo. -- January 15, 2015 -- A new study published in the American Journal of Human Genetics demonstrates the continued important contributions from the Center for Pediatric Genomic Medicine at Children's Mercy Hospital in Kansas City, Mo. The study describes a new pediatric mitochondrial syndrome and discovery of the responsible gene, called CLPB. Dr. Carol Saunders and her team partnered with collaborators in Denmark to report their collective findings based on gene mapping and exome sequencing in five children with CLPB-related disease. These patients had strikingly similar clinical findings including cataracts, severe psychomotor regression during febrile episodes, epilepsy, neutropenia with frequent infections, urinary excretion of 3-methylglutaconic aciduria, and death in early childhood. "This research once again highlights the power of genomic medicine in the diagnosis and discovery of rare pediatric conditions," said Saunders, clinical laboratory director of the Center for Pediatric Genomic Medicine "In this case, we have identified one of the many genes, CLPB, involved in mitochondrial diseases. These findings emphasize the importance of basic research into the characterization of human CPLB gene function and will pave the way for the diagnosis of other patients." The Center for Pediatric Genomic Medicine at Children's Mercy was the first … Continue reading →

HOUSTON -- (Jan. 15, 2015) - Alteration of lipid metabolism in brain cells promotes the formation of lipid droplets that presage the loss of neurons, said researchers from Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital in a report that appears online in the journal Cell. Neuroscience graduate student Lucy Liu, and Dr. Hugo Bellen, professor of molecular and human genetics, neuroscience, a Howard Hughes Medical Institute investigator and director of the Graduate Program in Developmental Biology at Baylor connected the presence of lipid droplet accumulation in the glia of specific mutants as a harbinger of neurodegeneration. Fruit fly genetics The Bellen lab uses fruit fly mutants of evolutionarily conserved genes that lead to neurodegeneration in human patients to dissect the molecular mechanisms that underlie the demise of neurons. The fruit flies carry mutations in genes that have human homologs that cause Leigh syndrome, Charcot-Marie-Tooth type 2A2 and ARSAL (autosomal recessive spastic ataxia with leukoencephalopathy). All of these mutations affect the function of the mitochondria, the powerhouse of the cell. Lipid droplets and energy Lipid droplets are organelles that serve as energy storage depots. They accumulate in the brain support cells … Continue reading →