Imagine how long it would take to analyze the 37 trillion or so cells that make up the human body if you had to do it by hand, one by one! Still, single-cell analysis is crucial to gaining a comprehensive understanding of our biology. The cell is the unit of life for all organisms, and all cells are certainly not the same. Think about it: even though each cell contains the same DNA, some make up your skin while others build your bones; some of your cells might be super healthy while others could be headed down the road to cancer or Alzheimer’s disease.
So, it’s no surprise that many NIH-funded researchers are hard at work in the rapidly emerging field known as single-cell analysis. In fact, one team recently reported impressive progress in improving the speed and efficiency of a method to analyze certain epigenetic features of individual cells . Epigenetics refers to a multitude of chemical and protein “marks” on a cell’s DNA—patterns that vary among cells and help to determine which genes are switched on or off. That plays a major role in defining cellular identity as a skin cell, liver cell, or pancreatic cancer cell.
The team’s rather simple but ingenious approach relies on attaching a unique combination of two DNA barcodes to each cell prior to analyzing epigenetic marks all across the genome, making it possible for researchers to pool hundreds of cells without losing track of each of them individually. Using this approach, the researchers could profile thousands of individual cells simultaneously for less than 50 cents per cell, a 50- to 100-fold drop in price. The new approach promises to yield important insights into the role of epigenetic factors in our health, from the way neurons in our brains function to whether or not a cancer responds to treatment.
It’s hard to believe, but it’s been almost 15 years since we successfully completed the Human Genome Project, ahead of schedule and under budget. I was proud to stand with my international colleagues in a celebration at the Library of Congress on April 14, 2003 (which happens to be my birthday), to announce that we had stitched together the very first reference sequence of the human genome at a total cost of about $400 million. As remarkable as that achievement was, it was just the beginning of our ongoing effort to understand the human genome, and to use that understanding to improve human health.
That first reference human genome was sequenced using automated machines that were the size of small phone booths. Since then, breathtaking progress has been made in developing innovative technologies that have made DNA sequencing far easier, faster, and more affordable. Now, a report in Nature Biotechnology highlights the latest advance: the sequencing and assembly of a human genome using a pocket-sized device . It was generated using several “nanopore” devices that can be purchased online with a “starter kit” for just $1,000. In fact, this new genome sequence—completed in a matter of weeks—includes some notoriously hard-to-sequence stretches of DNA, filling several key gaps in our original reference genome.
Tags: biotechnology, Biowulf, DNA, DNA sequencing, Ebola virus, genome assembly, hand-held sequencing device, human genome, Human Genome Project, International Space Station, MinION, nanopore sequencing, Oxford Nanopore Technologies, precision medicine, repetitive DNA, telomeres, Zika virus
Chances are you know someone with obsessive-compulsive disorder (OCD). It’s estimated that more than 2 million Americans struggle with this mental health condition, characterized by unwanted recurring thoughts and/or repetitive behaviors, such as excessive hand washing or constant counting of objects. While we know that OCD tends to run in families, it’s been frustratingly difficult to identify specific genes that influence OCD risk.
Now, an international research team, partly funded by NIH, has made progress thanks to an innovative genomic approach involving dogs, mice, and people. The strategy allowed them to uncover four genes involved in OCD that turn out to play a role in synapses, where nerve impulses are transmitted between neurons in the brain. While more research is needed to confirm the findings and better understand the molecular mechanisms of OCD, these findings offer important new leads that could point the way to more effective treatments.
Tags: ASD, autism, Autism Spectrum Disorder, brain, citizen science, compulsive behavior, CTTNBP2, Darwin's Dogs, DNA, DNA sequencing, Doberman Pinscher, dogs, gene variants, genomics, German Shepherd, HTR2A, Jack Russell terrier, mental health, mental illnesses, neurology, non-coding DNA, NRXN1, obsessive-compulsive disorder, OCD, pets, REEP3, regulatory elements, repetitive thoughts, serotonin, serotonin reuptake inhibitors, Shetland Sheepdog, SSRI, synapse
Happy New Year! While everyone was busy getting ready for the holidays, the journal Science announced its annual compendium of scientific Breakthroughs of the Year. If you missed it, the winner for 2016 was the detection of gravitational waves—tiny ripples in the fabric of spacetime created by the collision of two black holes 1.3 billion years ago! It’s an incredible discovery, and one that Albert Einstein predicted a century ago.
Among the nine other advances that made the first cut for Breakthrough of the Year, several involved the biomedical sciences. As I’ve done in previous years (here and here), I’ll kick off this New Year by taking a quick look of some of the breakthroughs that directly involved NIH support:
Tags: 2016, Africa, aging, All of Us, astronaut, atherosclerosis, Breakthroughs of 2016, Breakthroughs of the Year, chronic kidney disease, custom-designed proteins, designer proteins, DNA analysis, DNA sequencing, embryos, evolution, genomic analysis, genomics, hemagglutinin, human development, human embyos, human evolution, human migration, International Space Station, kidney dysfunction, longevity, nanopore sequencing, osteoarthritis, Out of Africa, portable laboratories, precision medicine, Precision Medicine Initiative, proteins, pulmonary fibrosis, Science's Breakthroughs of the Year, senescent cells, senolytic drugs, Simons Genome Diversity Project, universal flu vaccine, Zika vaccine