Muscular dystrophies are inherited disorders that result in progressive muscle damage and functional disability. There are currently no effective treatments available for the most common muscular dystrophy in adults, myotonic dystrophy type 1 (DM1). Mani Mahadevan (University of Virginia, Charlottesville) led the team that identified the mutation that causes DM1, which they reported in 1992ContinueContinue reading “TWEAKing treatment for myotonic dystrophy”
Tag Archives: genetics & genomics
Allelic imbalance favors paternal DNA
Researchers at the University of North Carolina School of Medicine (Chapel Hill) recently found that mammals are more like their dads, at least in terms of gene expression. Although individuals inherit genetic information from both parents, the new study shows that material inherited from fathers is more likely to be expressed. Lab Anim. (NY) 44,ContinueContinue reading “Allelic imbalance favors paternal DNA”
Biomedical research gone to the dogs
Much of biomedical research is aimed at understanding and treating diseases that affect humans. But sometimes the lessons learned from animal studies benefit the animals too, especially when veterinary medicine and research intersect. Holger Volk (Royal Veterinary College, London, UK), who studies epilepsy in dogs, recognizes the interplay between veterinary and biomedical research. In anContinueContinue reading “Biomedical research gone to the dogs”
Genomic insight from the common marmoset
The Marmoset Genome Sequencing and Analysis Consortium, an international group led by researchers at Baylor College of Medicine (Houston, TX), Washington University in St. Louis (MO) and University of Texas Health Science Center at San Antonio, has sequenced the whole genome of a female common marmoset (Callithrix jacchus) and published its initial analysis (Nat. Genet. 46,ContinueContinue reading “Genomic insight from the common marmoset”
How an acquired trait can be inherited
Starvation can induce epigenetic changes in famished individuals and can affect the health of their progeny, but it is not known whether or how acquired epigenetic changes are transmitted to future generations. Oded Rechavi and Oliver Hobert (Columbia University Medical Center, New York, NY) studied the epigenetics associated with starvation in Caenorhabditis elegans roundworms. LabContinueContinue reading “How an acquired trait can be inherited”
The lives and times of prosimian primates
Prosimian primates—lemurs, lorises and galagos—form a sister group to the other nonhuman primates: apes, Old World monkeys and New World monkeys. Many prosimian species are endangered in the wild and can be very difficult to observe and monitor, limiting our knowledge of their life histories. Lab Anim. (NY) 43, 302 (2014). view full text (loginContinueContinue reading “The lives and times of prosimian primates”
Mechanistic insight into fragile X
Fragile X syndrome (FXS), the most common form of inherited mental retardation, is caused by a lack of fragile X mental retardation protein (FMRP), which regulates protein translation in the brain. Lack of FMRP leads to defects in protein translation, but until now, the mechanism underlying this relationship was not known. Simpson Joseph (University ofContinueContinue reading “Mechanistic insight into fragile X”
Monkeying with monkey genes
Advances in genome-editing techniques have enabled researchers to create specific genetic modifications in laboratory animals such as mice, rats, fruit flies and zebrafish. This is often done to create models of human diseases that can be studied to learn about their etiology, pathology and mechanisms and to test potential therapeutic strategies. But many human diseasesContinueContinue reading “Monkeying with monkey genes”
Genome editing takes off
Genomic engineering is a staple of modern translational research; the ability to create alterations at the DNA level and explore their effects in various organisms has deepened our understanding of basic biologic function and of many human health disorders. About a year ago, scientists developed a new approach to genomic engineering called the CRISPR/Cas9 systemContinueContinue reading “Genome editing takes off”
Traversing the retina without damage
Hereditary retinal degeneration, in which mutations in photoreceptors and other delicate cells of the eye’s outermost retinal layer lead to deterioration and visual impairment, affects roughly 1 in 3,000 people worldwide. Gene therapy can successfully deliver normal copies of the mutated genes to the affected cells using adeno-associated virus (AAV) but requires that the virusContinueContinue reading “Traversing the retina without damage”
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