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Out of Africa: DNA Analysis Points to a Single Major Exodus

Posted on by Dr. Francis Collins

View of Africa from space

Credit: NASA

If you go back far enough, the ancestors of all people trace to Africa. That much is clear. We are all Africans. But there’s been considerable room for debate about exactly when and how many times modern humans made their way out of Africa to take up residence in distant locations throughout the world. It’s also unclear what evolutionary or other factors might have driven our human ancestors to set off on such a perilous and uncertain journey (or journeys) in the first place.

By analyzing 787 newly sequenced complete human genomes representing more than 280 diverse and understudied populations, three new studies—two of which received NIH funding—now help to fill in some of those missing pages of our evolutionary history. The genomic evidence suggests that the earliest human inhabitants of Eurasia came from Africa and began to diverge genetically at least 50,000 years ago. While the new studies differ somewhat in their conclusions, the findings also lend support to the notion that our modern human ancestors dispersed out of Africa primarily in a single migratory event. If an earlier and ultimately failed voyage occurred, it left little trace in the genomes of people alive today.


Clot Removal: Impressive Results for Stent Retrievers in Acute Stroke

Posted on by Dr. Francis Collins

Schematic of clot retriever

Caption: Schematic of how the clot retriever used in the reported trials is opened inside a blood vessel to surround a clot that is blocking blood flow. Once caught by the stent, the entire apparatus with the clot is removed from the body out a small puncture in the femoral artery at the groin.
Credit: Covidien

Despite the recent progress we’ve made in preventing stroke by such steps as controlling weight, lowering blood pressure, and stopping smoking, nearly 700,000 Americans suffer clot-induced, or ischemic, strokes every year [1]. So, I’m very pleased to report that, thanks to years of rigorous research and technological development, we’ve turned a major corner in the emergency treatment of this leading cause of death and disability.

The most severe strokes—those that can cause lifelong loss of independent function—are often due to blood clots that suddenly enter and block one of the main arteries supplying blood flow to the brain. No less than four large, randomized clinical trials recently reported results showing, for the first time, that using catheters to remove large clots from cerebral arteries can restore blood flow and halt further damage to the brains of patients with acute strokes. In fact, the stent-based retrievers and other mechanical approaches used to remove stroke-causing clots proved so effective, that three of the four trials were stopped early, allowing the results to be made swiftly available to medical professionals and the public.


Epilepsy Research Benefits from the Crowd

Posted on by Dr. Francis Collins

BrainFor millions of people with epilepsy, life comes with too many restrictions. If they just had a reliable way to predict when their next seizure will come, they could have a chance at leading more independent and productive lives.

That’s why it is so encouraging to hear that researchers have developed a new algorithm that can predict the onset of a seizure correctly 82 percent of the time. Until recently, the best algorithm was hardly better than flipping a coin, leading some to speculate that seizures are random neurological events that can’t be predicted at all. But the latest leap forward shows that seizures certainly can be predicted, and our research efforts are headed in the right direction to make them even more predictable. The other big news is how this new algorithm was developed: it’s the product of a crowdsourcing competition.


Global Health: Time to Pay Attention to Chronic Diseases

Posted on by Dr. Francis Collins

Graph of projected deaths by cause in low income countries

Caption: Projected deaths (in millions) by cause in low-income countries. Note increase in non-communicable diseases (orange).
Credit: Adapted from Beaglehole R, Bonita R. Lancet. 2008 Dec 6;372(9654):1988-96.

Greetings from China. I’m here in Shanghai with other biomedical research leaders for two major meetings. The first one, which is the topic of my blog today, is on global health. So, you might expect there to be a lot of talk about malaria, influenza, MERS-CoV, Ebola virus, sleeping sickness, dengue fever, tuberculosis, HIV/AIDS, and other infectious diseases. And those are most certainly topics of intense interest to NIH and our colleagues around the world. But this particular meeting is about a different kind of global health threat that’s becoming a rapidly growing problem: chronic diseases.

While infectious diseases remain a significant problem in the developing world, cancer, heart disease, obesity, diabetes, and other non-communicable diseases are now among the fastest growing causes of death and disability around the globe. In fact, nearly three-quarters of the 38 million people who died of chronic diseases in 2012 lived in low- or middle-income countries [1].


A White Halloween Costume That’s Not a Ghost

Posted on by Dr. Francis Collins

Photo of a tall man in glasses wearing a tie looking down at a young boy wearing play glasses, a tie, a white coat, and a stethoscope.

Caption: Dr. Jay Rubinstein and his mini-me, Landon Browne
Credit: Courtesy of Mary Guiden, Seattle Children’s Hospital

What costume to wear for Halloween? For many kids, it’s a difficult choice, but not so for 7-year-old Landon Browne. This year, he’s not going as a zombie or an action hero—he’s going as an NIH-funded researcher!

Landon, who was born almost completely deaf, has decided to dress up as his real-life superhero: Jay Rubinstein, M.D., Ph.D., a physician-scientist at Seattle Children’s Hospital who performed the surgeries that have enabled the boy to hear.


Fighting Malaria, With a Little Help from Bacteria

Posted on by Dr. Francis Collins

photo of a red-bellied mosquito adjacet to a photo of pink blobs

Caption: Anopheles female blood feeding and Plasmodium falciparum eggs in Anopheles mosquito midguts.
Credit: Image courtesy of Jose Luis Ramirez, Laboratory of Malaria and Vector Research, NIAID, NIH

It turns out that one of the most innovative and effective strategies to fight malaria might involve harnessing a bacterium called Wolbachia. This naturally occurring genus of bacteria infects many species of insects, including mosquitoes. The reason this is important is that Wolbachia-infected mosquitoes become resistant to the parasite Plasmodium falciparum, which causes some 219 million cases of malaria worldwide and more than 660,000 deaths [1]. Wouldn’t it be amazing if Wolbachia-infected mosquitoes blocked the transmission of malaria?

Unfortunately, Wolbachia don’t normally pass from generation to generation in Anopheles, the mosquitoes that spread malaria. But that hurdle has now been overcome.


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