Sometimes a scientific idea takes a long time to make its way forward. Angiogenesis is a case in point. As surgeon-in-chief at Boston Children’s Hospital, Judah Folkman, MD, noted that malignant tumors often had a bloody appearance. In The New England Journal of Medicine in 1971, he hypothesized that tumors cannot grow beyond a certain size without a dedicated blood supply, and that “successful” tumors secrete an unknown substance that encourages blood vessel growth, or angiogenesis.
If angiogenesis could be blocked, he argued, tumors might not grow or spread. Rather than waging a toxic chemical and radiation battle with a tumor, one could starve it into submission by shutting down its blood supply.
Today, stories of polio may seem like echoes from far-away history to those born after 1979, the year that polio was eradicated in the U.S. Since then, it has been customary for children to receive four doses of the polio vaccine to protect them from ever contracting the terrifying disease also known as “infantile paralysis.”
Polio, however, still afflicts people in some areas of the world today. It causes muscle wasting and — in the most severe cases — can completely rob a person of his or her ability to move or breathe, resulting in death.
In the U.S., research efforts to create a polio vaccine lasted much of the 20th century. Although the virus was thriving and spreading among people, researchers repeatedly failed at getting poliovirus to survive in culture.
Then, one of the most crucial breaks in the fight against polio occurred in a Boston Children’s Hospital laboratory in 1949, during the heyday of polio outbreaks. …
Spastic Paraplegia 47 doesn’t roll off the tongue. The name is complicated and challenging, much like SPG47 itself. When I tell healthcare providers my 3-year-old daughter’s diagnosis, I take a deep breath and wait for the inevitable question: What, exactly, is that?
More than 70 types of Hereditary Spastic Paraplegia (HSP) have been identified to date; almost all are neurodegenerative. At best, HSP causes distress and disruption; at worst, it has devastating, potentially life-threatening consequences. Its “pure” form impairs the lower extremities, causing extreme spasticity and weakness. Its “complicated” form — like our daughter Robbie’s — also impacts systemic and/or neurologic function. Many HSP sub-types have been diagnosed in only a handful of people worldwide, leaving affected families feeling lost and disconnected. …
Tim Yu, MD, PhD, a neurologist and genomics researcher at Boston Children’s Hospital, was studying autism genes when he saw something on a list that rang a bell. It was a mutation that completely knocked out the so-called Deleted in Colorectal Carcinoma gene (DCC), originally identified in cancer patients. The mutation wasn’t in a patient with autism, but in a control group of patients with brain malformations he’d been studying in the lab of Chris Walsh, MD, PhD.
Yu’s mind went back more than 20 years. As a graduate student at University of California, San Francisco, he’d conducted research in roundworms, studying genetic mutations that made the worms, which normally move in smooth S-shaped undulations, move awkwardly and erratically. …
In honor of Rare Disease Day (Feb. 28), we salute “citizen scientists” Jocelyn and John Duff.
When Talia Duff was born, her parents realized life would be different, but still joyful. They were quickly adopted by the Down syndrome parent community and fell in love with Talia and her bright smile.
But when Talia was about four, it was clear she had a true problem. She started losing strength in her arms and legs. When she got sick, which was often, the weakness seemed to accelerate.
Talia was initially diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), an autoimmune disease in which the body attacks its own nerve fibers. Treated with IV immunoglobulin infusions to curb the inflammation, she seemed to grow stronger — but only for a time. Adding prednisone, a steroid, seemed to help. But it also caused bone loss, and Talia began having spine fractures.
“We tried a lot of different things, but she never got 100 percent better,” says Regina Laine, NP, who has been following Talia in Boston Children’s Hospital’s Neuromuscular Center the past several years, together with Basil Darras, MD. “That’s when we decided to readdress the possibility that it was genetic.” …
The global theme of this year’s Rare Disease Day (February 28) is research, and in keeping with that, we salute a very important group of people: citizen scientists. These can-do patients and family members are putting previously undiagnosed rare diseases on the map and driving the search for treatments. Citizen scientists play multiple roles: They keep scientists focused on therapeutic development, conduct online research to connect ideas, set up patient networks and data registries, raise money and start companies. They’ve earned a voice in clinical trial design and were instrumental in the passage of the 21st Century Cures Act.
Meet a few citizen scientists who have inspired us recently. …
Abraham Rudolph, MD, who recently turned 93, has watched his chosen corner of the medical profession — pediatric cardiology — grow from rudimentary beginnings into a robust, multivariate discipline. Yet while his name is known worldwide in pediatric cardiology circles, he entered cardiology more than 50 years ago only by happenstance.
Born in South Africa in 1924, Rudolph came to the United States in 1951 to train in cardiology by invitation of Charles Janeway, MD, then Physician-in-Chief at Boston Children’s Hospital. Concerned about providing for his wife and newborn daughter, he chose cardiology over hematology or neurology because it offered a salary; many other physician-training opportunities at the time were unpaid. That first year, as the hospital’s first cardiology fellow, he made $3,000 — thanks to a family donation.
He stayed on for nine years, becoming director of the cardiac catheterization laboratory. There he found his focus.
“I became more and more interested in the physiology of the circulation, particularly the problems surrounding infancy,” he said in a 1996 interview with the American Academy of Pediatrics. “At that time, there were relatively few places that were doing anything about infants with heart disease. Most of the emphasis was on older children.” …
Peter Wolff, MD, recently retired from Boston Children’s Hospital after more than 60 years in service to clinical psychiatry, behavioral science research and ethical oversight of human subject research.
When he started as a psychiatrist at Boston Children’s Hospital in 1956, Peter H. Wolff, MD, was seeking a deeper understanding of infant behavior. At a time when psychoanalysis was the framework for understanding the infant psyche, Wolff applied scientific methods used to study animal behavior — carefully observing an animal in its natural environment and seeking to discern patterns. His approach would revolutionize our understanding of infancy.
“We knew a great deal about a stickleback fish, the graylag goose by just watching what they do in the field — field observations — but nobody had ever done that with humans,” Wolff shared in an interview in 2009, “and it seemed to me a logical thing to try to do that.” …
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. …
William Harmon, MD, a pioneer in pediatric dialysis and kidney transplantation, passed away on May 29, 2016 after 45 years at Boston Children’s Hospital. He was 72 years old. Starting as an intern in 1971, the year the hospital performed its first kidney transplant, he worked his way up to Nephrologist-in-Chief, a position he held for 25 years.
Harmon was passionate about caring for children with end-stage renal disease (ESRD), pioneering techniques and devices to adapt hemodialysis to infants and young children. He helped get NIH support for child-specific transplant research and led multiple clinical trials of treatment protocols to help children not only tolerate their transplants, but thrive. He also worked to ensure that government guidelines and legislation on ESRD and kidney transplant gave priority to children.