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!
The birth of a new protein
20.10.2017 | University of Arizona
Building New Moss Factories
20.10.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau
University of Maryland researchers contribute to historic detection of gravitational waves and light created by event
On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...
Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.
Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....
Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).
When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...
Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.
How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...
Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.
It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...
17.10.2017 | Event News
10.10.2017 | Event News
10.10.2017 | Event News
20.10.2017 | Interdisciplinary Research
20.10.2017 | Materials Sciences
20.10.2017 | Earth Sciences