Genetics & Molecular Biology
The authors of a new study in Nature Methods say they have discovered 2,363 new DNA sequences corresponding to 730 regions on the human genome not charted in the reference map of the human genome.
"A large portion of those sequences are either missing, fragmented or misaligned when compared to results from next-generation sequencing genome assemblies on the same samples," said Dr. Evan Eichler, senior author of the study. "These findings suggest that new genome assemblies based solely on next-generation sequencing might miss many of these sites."
It is coming – so we might as well prepare for it psychologically. Researchers who manipulate DNA and RNA, and all of the incredible tools of creation that accompany them, have become so accomplished in the past 50 years that we are now facing realistic scenarios once relegated to alarmist science fiction.
I used to tell my high school Biology students ‘wild’ stories about the genetic research of the early 2000’s (so long ago!) I always felt as if I had to be extra animated because I was sure I sounded like a crackpot!
Personalized genetics is hot in the news right now, but in fact we're generally terrible at using genotypes to predict who is going to get a disease. One villain here is the phenomenon known as epistasis, which essentially means that the physiological effect of one genetic variant depends on what other genetic variants (in other genes) are hanging around in the same genome.
New tissue engineering research could greatly reduce the number of lab animals required for FDA mandated experimental trials on new health products with medical formulations.
Scientists from Tel Aviv University writing in Tissue Engineering say that the necessary tissue for animal trials can be produced from adult rat stem cells ― cells that can be stimulated to create skin, bone, fat and muscle tissue from an animal in a laboratory setting.
My academic adventures have exposed me to a fairly large amount of mathematics. While I seem to end up wishing I had taken even more mathematics, computer science, and statistics coursework every week or three, I've nevertheless been pretty grateful for having this sort of background as I've become involved with plant genomics research.
Scientists have developed a non-viral, synthetic nanoparticle carrier to improve and save the sight of mice with retinitis pigmentosa, an inherited disease characterized by progressive vision loss and eventual blindness, for which there is no cure.
The researchers say the findings are based on "a clinically relevant treatment paradigm" and may one day lead to a gene replacement therapy for human retinal degeneration.
The research is detailed in The FASEB Journal.
Mice with with the retinal degeneration slow (Rds) gene, which causes retinitis pigmentosa, received one of three types of "treatments:" nanoparticles containing the normal copy of the Rds gene, the normal gene alone, or saline solution.
Hemophilia is caused by a genetic defect that inhibits the body's ability to control blood clotting. The two forms of the disease — hemophilia A and B — are associated with the absence of proteins called factor VIII and factor IX, respectively.
The disease affects millions of people and is sometimes untreatable due to patients' immune systems rejecting the standard treatment--infusion with a protein that helps the blood to clot.
To help patients tolerate therapy, doctors try to exhaust patients' immune systems by administering the therapeutic protein intravenously at frequent intervals and for long periods until the body no longer responds by producing inhibitors. While that brute force approach works
Mark Ptashne, Oliver Hobert, and Eric Davidson talk sense on epigenomics
We were astonished to see two sentences in your Editorial on the International Human Epigenome Consortium (Nature 463, 587; 2010) that seem to disregard principles of gene regulation and of evolutionary and developmental biology that have been established during the past 50 years.
I've heard a senior colleague say that there is nothing fundamental left to be discovered in biology. It's a nagging worry some people have, including myself. What's left, according to some (including one of molecular biology's founders Sydney Brenner), is to work out the details of particular systems, implied by already established paradigms - kind like chemistry.
Protein phosphorylation, the process by which proteins are flipped from one activation state to another, is a crucial function for most living beings, since it controls nearly every cellular process, including metabolism and gene transcription.