Česká Genetická Banka

NATURE: 2. - 8. 11. 2012

One-stop shop for disease genes

"When Heidi Rehm surveys a patient’s genes and finds a variant she’s never seen before, she improvises. First Rehm, who directs a clinical genetics testing laboratory at Partners HealthCare in Cambridge, Massachusetts, checks through as many as ten databases to learn whether that variant has ever been associated with disease. Then she may ask colleagues at other clinical sequencing laboratories whether they have seen it. But the launch this week of a database known as ClinVar will make her job much easier — and allow her to ask more sophisticated questions."

http://www.nature.com/news/one-stop-shop-for-disease-genes-1.11747

Translational medicine: Mice and men show the way

"Disorders caused by single genes, such as fragile X syndrome, share symptoms with the genetically complex autism spectrum disorders. It emerges that effective drugs for the former may lead to therapies for the latter."

http://www.nature.com/nature/journal/v491/n7423/full/491196a.html

Science: Transposable Elements, Epigenetics, and Genome Evolution

"Transposable genetic elements (TEs) comprise a vast array of DNA sequences, all having the ability to move to new sites in genomes either directly by a cut-and-paste mechanism (transposons) or indirectly through an RNA intermediate (retrotransposons). First discovered in maize plants by the brilliant geneticist Barbara McClintock in the mid-1940s, they were initially considered something of a genetic oddity (1, 2). Several decades later, TEs acquired the anthropomorphic labels of “selfish” and “parasitic” because of their replicative autonomy and potential for genetic disruption (3, 4). However, TEs generally exist in eukaryotic genomes in a reversibly inactive, genetically undetectable form we now call “epigenetically silenced,” whose discovery can also be traced to McClintock's elegant genetic studies (5, 6). As the underlying biochemical mechanisms emerged from obscurity and epigenetics became popular toward the end of the 20th century, it was proposed that epigenetic silencing evolved to control the proliferation of TEs and their perceived destructive potential (5, 6)."

http://www.sciencemag.org/content/338/6108/758.full