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Crowdsourcing 600 Years of Human History

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Family Tree

Caption: A 6,000-person family tree, showing individuals spanning seven generations (green) and their marital links (red).
Credit: Columbia University, New York City

You may have worked on constructing your family tree, perhaps listing your ancestry back to your great-grandparents. Or with so many public records now available online, you may have even uncovered enough information to discover some unexpected long-lost relatives. Or maybe you’ve even submitted a DNA sample to one of the commercial sources to see what you could learn about your ancestry. But just how big can a family tree grow using today’s genealogical tools?

A recent paper offers a truly eye-opening answer. With permission to download the publicly available, online profiles of 86 million genealogy hobbyists, most of European descent, the researchers assembled more than 5 million family trees. The largest totaled more than 13 million people! By merging each tree from the crowd-sourced and public data, including the relatively modest 6,000-person seedling shown above, the researchers were able to go back 11 generations on average to the 15th century and the days of Christopher Columbus. Doubly exciting, these large datasets offer a powerful new resource to study human health, having already provided some novel insights into our family structures, genes, and longevity.


Snapshots of Life: Finding Where HIV Hides

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HIV

Credit: Nadia Roan, University of California, San Francisco

Researchers have learned a tremendous amount about how the human immunodeficiency virus (HIV),  which causes AIDS, infects immune cells. Much of that information comes from studying immune cells in the bloodstream of HIV-positive people. Less detailed is the picture of how HIV interacts with immune cells inside the lymph nodes, where the virus can hide.

In this image of lymph tissue taken from the neck of a person with uncontrolled HIV infection, you can see areas where HIV is replicating (red) amid a sea of immune cells (blue dots). Areas of greatest HIV replication are associated with a high density of a subtype of human CD4 T-cells (yellow circles) that have been found to be especially susceptible to HIV infection.


Working Toward Greater Precision in Childhood Cancers

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Pediatric Cancer

Credit: National Cancer Institute, NIH

Each year, more than 15,000 American children and teenagers will be diagnosed with cancer. While great progress has been made in treating many types of childhood cancer, it remains the leading cause of disease-related death among kids who make it past infancy in the United States [1]. One reason for that sobering reality is our relatively limited knowledge about the precise biological mechanisms responsible for childhood cancers—information vital for designing targeted therapies to fight the disease in all its varied forms.

Now, two complementary studies have brought into clearer focus the genomic landscapes of many types of childhood cancer [2, 3]. The studies, which analyzed DNA data representing tumor and normal tissue from more than 2,600 young people with cancer, uncovered thousands of genomic alterations in about 200 different genes that appear to drive childhood cancers. These so-called “driver genes” included many that were different than those found in similar studies of adult cancers, as well as a considerable number of mutations that appear amenable to targeting with precision therapies already available or under development.


Creative Minds: Looking for Common Threads in Rare Diseases

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Valerie Arboleda

Valerie Arboleda
Credit: UCLA/Margaret Sison Photography

Four years ago, Valerie Arboleda accomplished something most young medical geneticists rarely do. She helped discover a rare congenital disease now known as KAT6A syndrome [1]. From the original 10 cases to the more than 100 diagnosed today, KAT6A kids share a single altered gene that causes neuro-developmental delays, most prominently in learning to walk and talk, plus a spectrum of possible abnormalities involving the head, face, heart, and immune system.

Now, Arboleda wants to accomplish something even more groundbreaking. With a 2017 NIH Director’s Early Independence Award, she will develop ways to mine Big Data—the voluminous amounts of DNA sequence and other biological information now stored in public databases—to unearth new clues into the biology of rare disorders like KAT6A syndrome. If successful, Arboleda’s work could bring greater precision to the diagnosis and potentially treatment of Mendelian disorders, as well as provide greater clarity into the specific challenges that might lie ahead for an affected child.


Basic Research: Building a Firm Foundation for Biomedicine

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Benchtop Centrifuge

Credit: National Institute of Allergy and Infectious Diseases, NIH

A major part of NIH’s mission is to support basic research that generates fundamental knowledge about the nature and behavior of living systems. Such knowledge serves as the foundation for the biomedical advances needed to protect and improve our health—and the health of generations to come.

Of course, it’s often hard to predict how this kind of basic research might benefit human populations, and the lag time between discovery and medical application (if that happens at all) can be quite long. Some might argue, therefore, that basic research is not a good use of funds, and all of NIH’s support should go to specific disease targets.

To counter that perception, I’m pleased to share some new findings that underscore the importance of publicly supported basic research. In an analysis of more than 28 million papers in the PubMed.gov database, researchers found NIH contributed to published research that was associated with every single one of the 210 new drugs approved by the Food and Drug Administration from 2010 through 2016 [1]. More than 90 percent of that contributory research was basic—that is, related to the discovery of fundamental biological mechanisms, rather than actual development of the drugs themselves.


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