It began with the proteins. Before Watson and Crick unraveled DNA’s double helix in the 1950s, biochemists snipped, ground and pulverized animal tissues to extract and study proteins, the workhorses of the body.
Then, in 1990, the Human Genome Project launched. It promised to uncover the underpinnings of all human biology and the keys to treating disease. Funding for DNA and RNA tools and studies skyrocketed. Meanwhile, protein science fell behind.
While genomics unveiled a wealth of information, including the identity of genes that lead to disease when mutated, researchers still do not fully understand what all the genes really do and how mutations change their function and cause disease.
Now proteins are promising to provide the missing link. …
When Boston Children’s Hospital decided to hire its first chief scientific officer (CSO) in eight years, the institution sought an individual who could spotlight the hospital’s robust scientific enterprise and effectively connect it to clinical medicine and industry. David Williams, MD, president of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and director of clinical and translational research at Boston Children’s, was the ideal choice.
An award-winning researcher, Williams trained in the clinic but also pursued basic science, developing techniques for introducing genes into mouse and human blood cells. He focused on blood stem cell biology, leukemia and gene therapy to correct genetic blood disorders, becoming a 16-year Howard Hughes Medical Institute Investigator, a Member of the National Academy of Medicine and a Fellow of the American Association for the Advancement of Science. He has secured multiple patents for techniques still in use today.
Williams spoke about his vision as CSO to align basic research and clinical care at Boston Children’s and the challenges ahead. …
If only there were a cure. David Breault, MD, PhD, associate chief of the Division of Endocrinology at Boston Children’s Hospital, was seeing patient after patient with Type I diabetes. Children facing lifetimes of insulin injections, special diets and the threat of long-term complications including blindness, heart disease and kidney failure.
Breault knew that patients with type I diabetes mysteriously destroy their own insulin-producing beta cells. He had read reports of researchers transplanting beta cells to supplement insulin. These transplants, even when successful, required powerful immunosuppressant medications to prevent patients’ immune systems from attacking the donor cells.
But Breault was also aware that investigators had, for a decade, been looking to stem cells as the source of a constantly renewing supply of beta cells. Advancing that promise, he has now found a way to convert patients’ own cells — from the stomach and intestine — into beta cells that produce insulin. …
At the dawn of his career, immunologist, biological chemist, molecular pharmacologist and seven-time biomedical entrepreneur Timothy Springer thought science was a bad idea. “I was suspect of the purposes that science had been put to,” he says, “making Agent Orange and napalm.”
It was 1966, and Springer was a Yale undergrad thinking, “What the hell good is this Ivy League education? The best and brightest, the Ivy League-educated people, totally screwed up in getting us into the Vietnam War.”
So he dropped out. For a year, he lived on a Native American reservation in Nevada for Volunteers in Service to America (VISTA). He helped the Tribal Council draft resolutions, launched a 4-H club and lobbied for paved roads so kids could go to school.
Finally, he returned to school at the University of California, Berkeley — trying anthropology, sociology and psychology. Switching to biochemistry his junior year, Springer asked his advisor, scientific visionary Daniel Koshland, Jr., former editor of Science, “Do you think I can do this — graduate with a degree in biochemistry?” …
Once upon a time, an English country doctor forged a treatment out of cow pus. Edward Jenner squeezed fluid from a cowpox sore on a milkmaid’s hand, and with it, successfully inoculated an eight-year-old boy, protecting him from the related smallpox virus.
It was the world’s first successful vaccination and laid the foundation for modern vaccinology: researchers formulate vaccines from a dead or disabled microbe — or its virulent components — and people sigh with relief when they don’t succumb to the disease.
But investigators are now finding holes in traditional vaccine dogma. “Vaccines were developed under the assumption that one size fits all,” says Ofer Levy, MD, PhD, a physician-scientist in the Division of Infectious Diseases at Boston Children’s Hospital and director of the collaborative Precision Vaccines Program. “That you develop a vaccine and it will protect the same way whether the patient is young, middle aged or elderly; male or female; living in a city or rural environment; northern or southern hemisphere; whether given day or night; summer or winter.” …
From the perspective of a wealthy country, malaria is a problem that is solved. It’s like smallpox. We ask, Who gets it? Who cares? Isn’t it better to invest in diabetes?
In truth, malaria is more infectious than ever, endemic to 106 nations, threatening half the world’s population and stalling economic development and prosperity.
That’s part of the reason why Timothy A. Springer, PhD, an investigator in the Program in Cellular and Molecular (PCMM) Medicine at Boston Children’s Hospital and the Immune Disease Institute (IDI), took on Plasmodium falciparum, the parasite that causes malaria. Another is that he likes solving problems in immunology – and has made his name discovering molecules that both promote and fight infections, in part by understanding their structures. …
Personalized medicine, harnessing genomics to improve patient care, is a great idea on paper. But investigators have long struggled to find a smooth route from the bench – where patients’ DNA samples are sequenced – to the bedside, where a doctor can use a genomics report to diagnose illness, prescribe treatments and offer means of prevention.
Looking for innovations, Children’s Hospital Boston decided to use the incentive of competition, launching a contest called the CLARITY Challenge. The winner will be the company or group that can best translate the science of genomics into tools and methods that integrate into and inform everyday care. …
What if blind eyes could see? What does that mean?
That’s the question neuroscientist Pawan Sinha and his team at MIT has begun to answer in a uniquely humanitarian and scientific endeavor.
Project Prakash (named for the Sanskrit word for “light”) intended, at first, to cure blind children in India. It’s a noble effort, given that India has the world’s highest population of blind people, less than half of whom survive to their third birthday and less than one percent of whom are employable.
Sinha’s team screened 20,000 blind Indian children and treated 700 of them for correctable problems such as cataracts. As Sinha recounted at last month’s One Mind for Research forum, these 700 children now can see.