Major European mouse study reveals the role of genes in disease
2015-07-28
(Press-News.org) Since mice share 90 percent of our genes they play an important role in understanding human genetics. The European Mouse Disease Clinic (EUMODIC) brought together scientists from across Europe to investigate the functions of 320 genes in mice. Over half of these genes had no previously known role, and the remaining genes were poorly understood.
In order to study gene function, the EUMODIC consortium produced mouse lines which each had a single gene removed. These mouse lines were then analyzed in mouse clinics, where each line was assessed by a series of tests and investigations, allowing to establish the role of the missing genes. Over 80 percent of the mouse lines assessed had a characteristic that provided a clue to what the missing gene's role might be. If the mouse fails a hearing test, for example, it suggests the missing gene has a role in hearing. In total, they carried out over 150 different tests on each mouse line.
EUMODIC was the first step towards the creation of a database of all mouse gene functions, a vision now being realized by the International Mouse Phenotyping* Consortium (IMPC). The IMPC incorporates 20 centers from across the globe with the aim over the next ten years of uncovering the role of all 20,000 genes in the mouse genome. IMPC builds on the groundwork and achievements of EUMODIC in establishing the procedures and processes to identify and catalogue the function of genes.
First author Professor Martin Hrabe de Angelis, Director of Institute of Experimental Genetics at the Helmholtz Zentrum München, who invented the mouse clinic concept, said: "Our findings with regard to the genes examined are now available to the scientific community as a valid data set, which can be downloaded free of charge from the IMPC (International Mouse Phenotyping Consortium) website, and form an excellent basis on which we and other research groups can develop and test new hypotheses." This was the first time such a project has been attempted on this scale with multiple centers cooperating together from different countries. The consortium had to establish new standardized procedures to generate and assess the mouse lines and a central European database to store all the data.
All the findings from the project have been made publically available, allowing other scientists to use it in their own research. This will allow to understand more about genes we currently know very little about, and open up new avenues for research into the genetics of human disease.
INFORMATION:
Further information
Background:
* A "phenotype" is the composite of an organism's observable characteristics. It includes not only morphological traits but also physiological properties and behavioral characteristics.
Original publication:
Hrabe de Angelis, M. et al. (2015). Deciphering mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics, Nature Genetics, DOI: 10.1038/ng.3360
Link to the publication:
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3360.html
As German Research Center for Environmental Health, Helmholtz Zentrum München pursues the goal of developing personalized medical approaches for the prevention and therapy of major common diseases such as diabetes mellitus and lung diseases. To achieve this, it investigates the interaction of genetics, environmental factors and lifestyle. The Helmholtz Zentrum Muenchen has about 2,300 staff members and is headquartered in Neuherberg in the north of Munich. Helmholtz Zentrum München is a member of the Helmholtz Association, a community of 18 scientific-technical and medical-biological research centers with a total of about 37,000 staff members.
The research objective of the Institute of Experimental Genetics (IEG) is to elucidate the causes and pathogenesis of human diseases. Due to its prominent role in interdisciplinary and international consortia, the IEG is a global leader in the systemic study of mouse models for human diseases and the elucidation of involved genes. The main focus is on metabolic diseases such as diabetes. The IEG is part of the Helmholtz Diabetes Center (HDC).
Rising life expectancy is causing an increase in age-related, but also sociological and environmental, influences on the genes. The Institute of Developmental Genetics (IDG) examines these changes in genetic material. In the Mouse Genetics group, genetic animal models are developed to investigate various diseases. These models are analyzed in the Disease Modelling research group in order to identify gene functions and cell processes and evaluate the influence of the environment and aging processes. The group focuses on the examination of neurological and psychiatric diseases.
The Institute of Pathology contributes to the identification and characterization of molecular mechanisms and pathways, which are relevant for disease development and progression. We endeavor to understand the interplay between environment and genetic, and to identify novel targets for therapeutic intervention.
The Comprehensive Pneumology Center (CPC) is a joint research project of the Helmholtz Zentrum München, the Ludwig-Maximilians-Universität Clinic Complex and the Asklepios Fachkliniken Muenchen-Gauting. The CPC's objective is to conduct research on chronic lung diseases in order to develop new diagnosis and therapy strategies. The CPC maintains a focus on experimental pneumology with the investigation of cellular, molecular and immunological mechanisms involved in lung diseases. The CPC is a site of the Deutsches Zentrum für Lungenforschung (DZL).
Contact for the media:
Department of Communication, Helmholtz Zentrum München - German Research Center for Environmental Health (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg - Phone: +49 89 3187 2238 - Fax: +49 89 3187 3324 - E-mail: presse@helmholtz-muenchen.de
Scientific contact at Helmholtz Zentrum München:
Prof. Dr. Martin Hrabe de Angelis, Helmholtz Zentrum München - German Research Center for Environmental Health (GmbH), Institute of Experimental Genetics, Ingolstädter Landstr. 1, 85764 Neuherberg - Phone: +49 89 3187 3502 - E-mail: hrabe@helmholtz-muenchen.de
ELSE PRESS RELEASES FROM THIS DATE:
2015-07-28
Mitochondria are essential to all higher forms of life. Every animal and plant depends on these small intracellular structures. Mitochondria have multiple tasks: Since they generate most of the cell's biochemical energy, they are referred to as the powerhouses of the cell. In addition, they are responsible for producing and breaking down amino acids and fats. They also regulate cellular death, called apoptosis.
As a result, the spectrum of diseases that are linked to mitochondrial defects is wide, ranging from severe muscular and nervous disorders to neurodegenerative ...
2015-07-28
Physicists like to study unusual kinds of waves, like freak waves found in the sea. Such wave movements can be studied using models designed to describe the dynamics of disturbances. Theoretical physicists, based in France have focused on finding ways of best explaining how wave disturbance occurs under very specific initial conditions that are key to the genesis of these disturbances. They looked for solutions to this puzzle by resolving a type of equation, called the nonlinear Schrödinger equation. It is solved by applying a method designed for studying instabilities ...
2015-07-28
Researchers at University of California, San Diego School of Medicine have established the safety and dosing of a new drug for treating blood cancers. The findings are published online July 27 in The Lancet Haematology.
The drug is a small molecule inhibitor that suppresses the activity of a signaling pathway believed to contribute to a variety of blood cancers' eventual resistance to standard chemotherapy treatments.
More specifically, preclinical research, funded in part by the California Institute for Regenerative Medicine (CIRM), has shown that the drug coaxes ...
2015-07-28
Researchers at Children's Hospital Los Angeles and The Saban Research Institute of CHLA have created a dynamic functional mouse model for lung injury repair, a tool that will help scientists explain the origins of lung disease and provide a system by which new therapies can be identified and tested. Their findings have been published online by the American Journal of Respiratory Cell and Molecular Biology.
The novel model used targeted Type 2 Alveolar Epithelial cells (AEC2), which line the small sac-like cavities of the lung and are thought to be responsible for injury ...
2015-07-28
WASHINGTON, DC (July 28, 2015)-- As part of a unique survey of nearly 2,000 women of childbearing age who receive health care at the nation's community health centers, 90 percent reported that they were not actively seeking to become pregnant in the next 12 months. Yet more than 3 out of 10 were not using contraceptives at the time of the survey.The survey's findings signal a clear unmet need for more comprehensive family planning services at health centers, according to a report issued today by the Geiger Gibson /RCHN Community Health Foundation Research Collaborative ...
2015-07-28
The Tyrannosaurus rex and its fellow theropod dinosaurs that rampage across the screen in movies like Jurassic World were successful predators partly due to a unique, deeply serrated tooth structure that allowed them to easily tear through the flesh and bone of other dinosaurs, says new research from the University of Toronto Mississauga (UTM).
The research, published in the journal Scientific Reports, was conducted by Kirstin Brink, a post-doctoral researcher in the Department of Biology at UTM; Professor Robert Reisz of the Department of Biology and the UTM vice-principal ...
2015-07-28
Diseases like Alzheimer's are caused when proteins aggregate and clump together. In a world first, EPFL scientists have successfully distinguished between the disease-causing aggregation forms of proteins. The finding can help change pharmaceutical treatment of neurodegenerative diseases.
Because of our increasing lifespan, diseases like Parkinson's, Huntington's and Alzheimer's are on the rise. They are caused when certain proteins misfold and aggregate together, forming clumps that damage neurons in the brain and spinal cord. This aggregation evolves progressively through ...
2015-07-28
PITTSBURGH, July 28, 2015 - By studying the yeast used in beer- and bread-making, researchers at the University of Pittsburgh School of Medicine have uncovered the mechanism by which ancient proteins repair DNA damage and how their dysfunction could lead to the development of tumors. The findings, published online today in Nature Communications, could lead to new ways to tailor cancer therapies.
In humans, protein mutations called RAD51 paralogues have been associated with breast and ovarian tumors, said senior investigator Kara Bernstein, Ph.D., assistant professor of ...
2015-07-28
DURHAM, N.C. -- The light-sensing molecules that tell plants whether to germinate, when to flower and which direction to grow were inherited millions of years ago from ancient algae, finds a new study from Duke University.
The findings are some of the strongest evidence yet refuting the prevailing idea that the ancestors of early plants got the red light sensors that helped them move from water to land by engulfing light-sensing bacteria, the researchers say.
The results appear online in Nature Communications.
"Much like we see the world through our eyes, plants 'see' ...
2015-07-28
OAK BROOK, Ill. - Specific cardiovascular risk factors, such as alcohol consumption, smoking, obesity and diabetes, are associated with smaller regional brain volumes that may be early indicators of Alzheimer's disease and dementia according to a study published online in the journal Radiology.
"We already know that vascular risk factors damage the brain and can result in cognitive impairment," said Kevin S. King, M.D., assistant professor of radiology at the Keck School of Medicine of the University of Southern California in Los Angeles. "But our findings give us a more ...
LAST 30 PRESS RELEASES:
[Press-News.org] Major European mouse study reveals the role of genes in disease
