New research has found that men who have the Western world’s most common genetic disorder are more likely to develop dementia, compared to those without the faulty genes. Researchers at the University of Exeter and the University of Connecticut have previously found that men with two faulty genes that cause the iron overload condition haemochromatosis […]
Restriction fragment length polymorphism (RFLP) is a technique invented in 1984 by the English scientist Alec Jeffreys during research into hereditary diseases. It is used for the analysis of unique patterns in DNA fragments in order to genetically differentiate between organisms – these patterns are called Variable Number of Tandem Repeats (VNTRs). Genetic polymorphism is […]
NOTICE: This Consumer Medicine Information (CMI) is intended for persons living in Australia. ELELYSO® taliglucerase alfa rpc Consumer Medicine Information What is in this leaflet This leaflet answers some common questions about Elelyso. It does not contain all the available information. It does not take the place of talking to your doctor or pharmacist. All […]
Researchers at the National Institutes of Health have discovered a new genetic disorder characterized by developmental delays and malformations of the brain, heart and facial features. Named linkage-specific-deubiquitylation-deficiency-induced embryonic defects syndrome (LINKED), it is caused by a mutated version of the OTUD5 gene, which interferes with key molecular steps in embryo development. The findings indicate […]
Mutations in proteins called histone H1, which help package DNA in chromosomes, are a frequent cause of lymphomas, according to a study led by researchers at Weill Cornell Medicine, NewYork-Presbyterian and The Rockefeller University. The findings could lead to new approaches to treating these cancers. Scientists in recent years have observed that mutations in histone […]
A new study by University of California researchers shows the promise of high-throughput DNA-sequencing technologies to improve prenatal diagnosis and pregnancy outcomes for women who have experienced an abnormal prenatal ultrasound. In the UCSF-led study, scientists used a technique called exome sequencing to identify genetic diseases as the underlying cause in 37 of 127 cases […]
A large team of researchers affiliated with a host of institutions across Japan has identified multiple loci associated with ancestry-specific risk factors for coronary artery disease. In their paper published in the journal Nature Genetics, the group describes their analysis of genetic information from several publicly available databases and its results. Coronary artery disease is […]
How do epedemics come to a stop? Scientists consider genetic mutation of the pathogens as a possible cause. The plague killed about a quarter of the European population in the 14th century. How did it come to a stop? An international team of researchers led by Ben Krause-Kyora from the Institute of Clinical Molecular Biology […]
University of Virginia School of Medicine scientists are harnessing the mind-bending potential of quantum computers to help us understand genetic diseases—even before quantum computers are a thing. UVA’s Stefan Bekiranov, Ph.D., and colleagues have developed an algorithm to allow researchers to study genetic diseases using quantum computers, once there are much more powerful quantum computers […]
The ability to sequence the genome of a tumor has revolutionized cancer treatment over the last 15 years by identifying drivers of cancer at the molecular level. But understanding the genetic diversity of individual cells within a tumor and how that might impact the disease progression has remained a challenge, due to the current limitations […]
