A rare type of the disease found mainly in Bedouins may provide insight into anemia
A combined effort between scientists at Schneider Childrens Medical Center of Israel, Tel Aviv University, and the Weizmann Institute of Science has led to the discovery of a gene responsible for a type of anemia primarily found in a number of Bedouin families, called congenital dyserythropoietic anemia-1 (CDA-1). The findings, published in the December issue of The American Journal for Human Genetics, could lead to effective detection and eventually treatment of the disease. In addition, understanding the role of this genes protein product in the body could provide important clues to other types of anemia, as well as to the general mechanisms of blood cell formation.
CDA-1 is characterized by a medium to high deficiency in blood production, and in critical cases patients must receive blood transfusions throughout their lifetime. It is a rare disease present worldwide, but the largest vulnerable group is the Negev Deserts Bedouin population, where marriage among relatives is common. The high disease prevalence in this Israeli population was crucial to the identification of the CDA-1 gene.
The study group included 45 Bedouins treated by Dr. Hannah Shalev at the Soroka Medical Center in Beer Sheva. Initially, a team headed by Dr. Hannah Tamary, who works both at Schneider and the Felsenstein Medical Research Center in Tel Aviv Universitys Faculty of Medicine, narrowed down the search for the gene to a region on a specific chromosome (chromosome15) . To uncover the gene in that region, they then turned to Profs. Doron Lancet and Jacques S. Beckmann of the Crown Human Genome Center at the Weizmann Institutes Molecular Genetics Department. Both teams, after four years of intensive research, discovered and characterized the previously unknown gene, named CDAN1.
Jeffrey J. Sussman | EurekAlert!
World’s Largest Study on Allergic Rhinitis Reveals new Risk Genes
17.07.2018 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt
Plant mothers talk to their embryos via the hormone auxin
17.07.2018 | Institute of Science and Technology Austria
For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.
To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...
For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.
Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...
Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.
A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...
Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.
"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....
Ultra-short, high-intensity X-ray flashes open the door to the foundations of chemical reactions. Free-electron lasers generate these kinds of pulses, but there is a catch: the pulses vary in duration and energy. An international research team has now presented a solution: Using a ring of 16 detectors and a circularly polarized laser beam, they can determine both factors with attosecond accuracy.
Free-electron lasers (FELs) generate extremely short and intense X-ray flashes. Researchers can use these flashes to resolve structures with diameters on the...
13.07.2018 | Event News
12.07.2018 | Event News
03.07.2018 | Event News
17.07.2018 | Power and Electrical Engineering
17.07.2018 | Life Sciences
16.07.2018 | Physics and Astronomy