Archive for research
Newborn genetic screening for pediatric cancer risk could save lives
Numerous genetic mutations increase children’s risk for various cancers. When they are detected early, cancers can potentially be caught at an early, more treatable stage — or avoided entirely. Could adding such “cancer predisposition” genes to routine newborn “heel-stick” screening save lives? Lisa Diller, MD, chief medical officer at the Dana-Farber/Boston Children’s Cancer and Blood ... Read More
Minimally invasive surgery safe and effective for craniosynostosis
Traditional treatment for children with craniosynostosis — a condition in which the bones of the skull grow together too early in the child’s development — usually involves an extensive open craniectomy surgery with a incision to release the fused bones. But a study from physicians in the Cleft and Craniofacial Center at Boston Children’s Hospital ... Read More
Avoiding a lifetime of injections: Can gene editing cure severe congenital neutropenia?
Fionn Mulrooney, a cheerful 11-month-old, in Plymouth, Massachusetts, has no idea he has a life-threatening genetic disease. Nor does he seem fazed by the daily subcutaneous injections his parents have learned how to give him. And little does he know that cells from his bone marrow are helping scientists develop an innovative gene-editing approach that ... Read More
New findings show risk of bleeding and clotting after COVID-19
A year after COVID-19 was first identified, we have some answers about how to prevent and treat this illness, but there are still many questions. Some of the unknowns include what longer-term effects COVID-19 infection may have on the heart and other systems in the body. One of the complications associated with COVID-19 infection is ... Read More
Predicting pediatric seizures with a wristband: Study shows what’s possible
The ability to track seizures has a number of potential benefits: It could allow physicians to better determine optimal dosing and timing of medication, as well as enable timely interventions to help prevent impending seizures. Traditionally, electroencephalography (EEG) and electrocorticography have been used to evaluate and forecast seizures. However, more compact, portable approaches — such ... Read More
Pharmacogenomics: Nearly 30 percent of children could benefit, study finds
Medications aren’t one-size-fits-all. Genetic differences can affect how patients metabolize drugs, and can sometimes make a beneficial drug ineffective or even toxic. In one infamous case, a 2-year-old boy in Canada died from a codeine dose he received after surgery. A genetic difference caused him to metabolize codeine so quickly that toxic levels of morphine ... Read More
Arthritis drug reduces rates of acute graft-vs-host disease after bone marrow transplant
The immune-suppressing drug abatacept, currently used for rheumatoid arthritis, could make bone marrow transplant safer, report researchers at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. The phase 2 randomized, multi-center clinical trial, the largest to date, appears in the Journal of Clinical Oncology. Abatacept (brand name ORENCIA) reduced rates of severe, acute graft-versus-host disease ... Read More
The new COVID-19 virus variant: What you need to know
You’ve probably seen news reports about B.1.1.7, a newly discovered version of the SARS-CoV-2 virus that causes COVID-19. Now found in several countries, including the U.S., B.1.1.7 is quickly spreading around the world. Although B.1.1.7 seems to be more contagious, it doesn’t appear to lead to more serious illness. What else do we know about ... Read More
Made-to-order therapies get a boost with new FDA guidelines
Ed. note: Mila passed away in February, 2021, at age 10. The Mila’s Miracle Foundation continues to work to pave a pathway for personalized treatments. Science-based treatments for rare genetic diseases have burgeoned in the past decade. That includes diseases so rare they affect just a handful of patients — or in some cases, just ... Read More
Hip reconstruction in complex patients: Predicting complications
Neuromuscular hip dysplasia and progressive spastic hip displacement are among the most common orthopedic concerns in non-ambulatory children with cerebral palsy (CP), leading to pain, decreased function, and impaired quality of life. While hip reconstruction surgery can improve quality of life in these children, it can be associated with acute post-operative pain, medical complications, and ... Read More