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.
Update: Nusinersen received FDA approval on December 23, 2016, and will be marketed as Spinraza.
In recent months, two Phase III clinical trials have shown a clear benefit of nusinersen in children with spinal muscular atrophy (SMA), a genetic motor neuron disease that robs children of muscle control and is the leading genetic cause of infant mortality. The ENDEAR trial, involving infants with the more severe SMA Type 1, was first to terminate randomization in August 2016. The CHERISH trial, involving older children with milder Type 2 SMA, was halted on November 8, 2016, because it also met its efficacy target.
Both trials are now open-label, and the FDA has granted nusinersen a priority review. The drug, formerly called SMNRx and now brand-named Spinraza, is an antisense oligonucleotide works by altering gene splicing (see sidebar).
Vector asked Basil Darras, MD, director of the Spinal Muscular Atrophy Program at Boston Children’s Hospital, to put these developments in perspective. Darras is site principal investigator at Boston Children’s for both trials. The hospital was the first in the world to enroll a child with SMA Type 1 in the ENDEAR study, in 2014. …
An occasional roundup of news items Vector finds noteworthy.
Zika’s surface in stunning detail; mosquito tactics
We haven’t curbed the Zika epidemic yet. But cryo-electron microscopy — a newer, faster alternative to X-ray crystallography — at least reveals the structure of the virus, which has been linked to microcephaly (though not yet definitively). The anatomy of the virus’s projections gives clues to how the virus is able to attach to and infect cells, and could provide toeholds for developing antiviral treatments and vaccines. Read coverage in the Washington Post and see the full paper in Science.
Meanwhile, as The New York Times reports, scientists are coming together in an effort to control Zika by genetically manipulating the mosquito that spreads it, Aedes aegypti. …
As you may have heard, Brazil is facing a startling outbreak of microcephaly, a rare condition in which a child is born with a head and brain that are much smaller than normal. Microcephaly is almost always associated with neurologic impairment and can be life-threatening.
The epidemic has been linked to an influx of the mosquito-borne virus Zika, first detected in Brazil last April. This past Friday, January 16, the Centers for Disease Control and Prevention issued travel warnings advising pregnant women to avoid visiting El Salvador, French Guiana, Guatemala, Haiti, Honduras, Martinique, Mexico, Panama, Paraguay, Suriname, Venezuela and Puerto Rico. And over the weekend, the first U.S. case of microcephaly linked to Zika reportedly surfaced in Hawaii.
The more you listen to Martine Rothblatt, the more the fact that she’s transgendered becomes one of the less interesting things about her. Instead, you get caught up and inspired by her journey—from satellites to organ farms, from founding a pharmaceutical company to BINA 48, a “mindclone” robot that embodies her wife Bina’s beliefs, attitudes, memories and feelings.
Rothblatt, currently chief of United Therapeutics, is among the world’s highest paid female CEOs. Her motto is, “Do the right thing and the money will take care of itself.”
This is a lightly edited excerpt of her interview with Jane Clayson, guest host of NPR’s On Point. …
Since we spoke with the founders of TriVox Health in 2014, their disease management program has taken off. The program began in Boston Children’s Hospital’s Division of Developmental Medicine as a way to more efficiently collect information on children’s ADHD symptoms from parents and teachers. It is now a user-friendly, web-based platform for tracking multiple conditions, incorporating medication confirmation, side effects reporting, disease symptom surveys and quality of life measures.
Although global health has come a long way over the past 25 years, access to surgical care remains very uneven across the world. Five billion people lack access to basic surgical care; this translates into unnecessary death and disability. More than one-third of all global deaths are from conditions requiring surgical care—more than the number of deaths from HIV/AIDs, tuberculosis and malaria combined. In addition, one-quarter of the world’s disability has been attributed to surgically treatable conditions.
In January 2014, an international team of 25 surgeons and public health experts launched The Lancet Commission on Global Surgery to address the widespread need for surgical care around the world. After 14 months of global consultation and four international meetings, the commission published a 32,000- word report today in TheLancet that provides a strategy for governments, policy makers, non-profits, funding agencies, academic institutions, professional associations, health care providers and local communities to engage in concrete action in low- and middle-income countries.
On May 6, the commission hosts its North American launch in Boston to present its key findings and priority action items. John G. Meara, MD, DMD, MBA, Plastic Surgeon-in Chief at Boston Children’s Hospital and the Kletjian Professor of Global Surgery at Harvard Medical School, is one of three chairs of the commission. We sat down with Meara to learn more about the commission’s work, which he describes as one of the “most impactful things he has done in his career to date.” …