New Internet tool combines genomics and informatics to enable investigators, physicians or patients to analyze genes according to their evolutionary profiles and find associated genes
Two major revolutions, one genomic and one in informatics, are completely changing the face of biomedical research. Every day all over the world, millions of genetic sequences — from disease-related genes to complete genomes of plants, animals, bacteria and viruses — are resolved, identified and dissected.
Dr. Yuval Tabach at the Hebrew University’s Institute for Medical Research Israel Canada has developed a new Internet tool that will allow any investigator, physician or patient to analyze a gene according to its evolutionary profile and find associated genes. (Photo credit: The Hebrew University of Jerusalem)
One of the most fascinating applications of the available information stemming from different organisms is the possibility to identify novel disease-related genes and predict their biological functions. The technique is simple and based on the fact that genes that work together or those that play an important role in biology will be present together in organisms that need them.
Conversely, genes connected to a particular function like vision will disappear from species that have lost the power of sight, and may therefore be identified by a comparison to the genes in normal animals.
Now, Dr. Yuval Tabach, a researcher from IMRIC — the Institute for Medical Research Israel Canada in the Hebrew University of Jerusalem’s Faculty of Medicine, has developed a new Internet tool that will allow any investigator, physician or patient to analyze a gene according to its evolutionary profile.
Dr. Tabach’s application is a product of his continuing research, which he began as a Fellow at Harvard University in collaboration with researchers and physicians from all over the world. This research revealed the possibility of comparing the evolutionary profiles derived from multiple organisms to predict the biological functions and clinical relevance of given genes. One of the most important applications of this approach is the possibility to identify genes associated with genetic diseases and cancer.
One example of a known mutation which increases the likelihood of developing breast and ovarian cancers is in the BRCA1 gene. Interest in this gene was highlighted when, in 2013, Angelina Jolie, having discovered that she had inherited the dangerous mutation from her mother who died of cancer aged 56, decided to undergo a preventative double mastectomy. However in the majority of cases, both for breast cancer and other genetically transmitted diseases, the identity of the gene responsible is unknown.
By using the methods of genetic analysis developed by Dr. Tabach, researchers can now identify genes within the same network as the BRCA1 gene, or other associations of genes, simply by scanning the evolutionary profiles of tens of organisms with a single click. The number of organisms that can be scanned in this way is anticipated to increase to hundreds in the near future.
“The significance of this tool is that anyone, physician or researcher, can input results from genetic mapping studies concerning suspected genes, and the tool will identify evolutionary, and probably functional, connections to known genes with association to diseases” explains Dr. Tabach. “The process is rapid, without cost or time wasted, and enables the identification of genes responsible for diseases.”
An interesting example of a gene that could be identified using this phylogenetic profiling approach is the so-called “Vampire’s Disease,” more professionally termed porphyria. Representing a family of genetic diseases characterized by abdominal pain, sensitivity to sunlight, purple urine, and psychotic episodes, porphyria probably forms the basis for the prevalent myths of vampires.
These diseases are rare, but there is evidence for hereditary porphyria in European royal families, and it may have been responsible for the madness of King George III as well as for the psychotic behavior of the painter Vincent Van Gogh, misdiagnosed as a depressive schizophrenic. Dr. Tabach demonstrated how, with one click, it is possible to identify essentially all the genes known to be associated with porphyria as well as other genes that, based on their phylogenetic profile, are very likely to be involved.
The bioinformatics methods developed by Dr. Tabach have formed the basis for the establishment of a company dealing with computational pharmaceutics which will identify new indications for existing therapeutic agents. This could dramatically decrease the time and expense required to bring a new drug to market, and facilitate the development of treatments for rare orphan diseases.
In the coming years, Dr. Tabach’s laboratory intends to focus on the identification of genes that prevent aging and protect against cancer, by consideration of the genes of some fascinating species of organisms with increased longevity and an almost complete resistance to cancer. In addition the laboratory is working with a model which describes almost 40 neurological diseases with a related etiology including Huntington’s disease, ataxia, and fragile X syndrome.
The research paper, co-authored with collaborators from Massachusetts General Hospital and Harvard Medical School in Boston, appears in the journal Nucleic Acids Research as “PhyloGene server for identification and visualization of coevolving proteins using normalized phylogenetic profiles” (doi: 10.1093/nar/gkv452).
Support for the research came from Hebrew University of Jerusalem start-up funds.
The Institute for Medical Research-Israel Canada (IMRIC), in the Hebrew University of Jerusalem's Faculty of Medicine, is one of the most innovative biomedical research organizations in Israel and worldwide. IMRIC brings together the most brilliant scientific minds to find solutions to the world's most serious medical problems, through a multidisciplinary approach to biomedical research. More information at http://imric.org
The Hebrew University of Jerusalem is Israel’s leading academic and research institution, producing one-third of all civilian research in Israel. For more information, visit http://new.huji.ac.il/en
To contact the researchers: Dr. Yuval Tabach, firstname.lastname@example.org.
For more information:
Hebrew University of Jerusalem
+972-2-5882844 / +972-54-8820860
Dov Smith | Hebrew University of Jerusalem
Multi-institutional collaboration uncovers how molecular machines assemble
02.12.2016 | Salk Institute
Fertilized egg cells trigger and monitor loss of sperm’s epigenetic memory
02.12.2016 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.
Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
02.12.2016 | Medical Engineering
02.12.2016 | Agricultural and Forestry Science
02.12.2016 | Physics and Astronomy