Archive for spinal muscular atrophy
From our labs and clinics: 10 research advances in 2021
Pediatric medicine at Boston Children’s Hospital rests on a strong base of discovery science. But it can take decades for bench discoveries to be validated and replicated in humans and for treatments to be proven safe. When lab discoveries advance on the road to clinical application, it’s cause to celebrate. Here are 10 research success ... Read More
Where the world comes for answers: Meet some of our international patients
Families travel to Boston Children’s Hospital from around the corner and around the globe. This year, we highlighted three of these fantastic kids. Priyanshu’s father searched the world for the care his son needed for his complex heart condition. Photos: Priyanshu (India) A few months after he was born, Priyanshu was diagnosed with double outlet right ... Read More
Risdiplam improves motor function in infants with spinal muscular atrophy
Until recently, babies and children with spinal muscular atrophy (SMA) lacked any type of treatment capable of stopping the neuromuscular disease from progressing. In SMA, damaged motor neurons in the spinal cord fail to correctly send messages to the muscle cells. As a result, infants and children with SMA may not be able to hold ... Read More
Nurses Week 2021: Integrating new therapies into nursing practice and patient care delivery
A revolution in pharmacological gene therapy is underway, as indicated by a significant acceleration in the creation of new therapies to treat genetic disorders at the molecular level. Boston Children’s Hospital Nursing and extended team members, in collaboration with hospital researchers and scientists, biotech, and biopharma partners, have developed a set of specific processes to ... Read More
Sofie’s story: A new gene therapy treatment for SMA
Sofie Petrovická sits up in the exam room, smiling and laughing with her physical therapist, Elizabeth Maczek. Though she’s just over a year old, sitting on her own is no minor feat for Sofie — in fact, it’s nothing short of a miracle. Sofie was just 3 months old when she was diagnosed with spinal ... Read More