Research
Typing medulloblastoma: From RNA to proteomics and phospho-proteomics
Medulloblastoma is one of the most common pediatric brain tumors, accounting for nearly 10 percent of cases. It occurs in the cerebellum, a complex part of the brain that controls balance, coordination and motor function and regulates verbal expression and emotional modulation. While overall survival rates are high, current therapies can be toxic and cause secondary ... Read More about Typing medulloblastoma: From RNA to proteomics and phospho-proteomics
Research
Tracking the elusive genes that cause strabismus
Strabismus is a common condition in which the eyes do not align properly, turning inward, outward, upward or downward. Two to four percent of children have some form of it. Some cases can be treated with glasses or eye patching; other cases require eye muscle surgery. But the treatments don’t address the root causes of strabismus, which ... Read More about Tracking the elusive genes that cause strabismus
Patient Stories
Finally in the game: Patient in drug trial for PTEN mutation seems to benefit
From the time of Preston Hall’s birth at 30 weeks, his parents navigated multiple diagnoses, surgeries and sometimes life-threatening medical issues. At 11 months, Preston underwent skull revision surgery for trigonocephaly (a fusion of the skull bones causing a triangular-shaped forehead). After surgery, his doctors discovered serious airway and gastrointestinal issues that led to his ... Read More about Finally in the game: Patient in drug trial for PTEN mutation seems to benefit
Research
Safety trial of algal anesthetic kicks off
Two years ago, we told the story of the quest of Charles Berde, MD, PhD, of Boston Children’s Division of Pain Medicine, to turn an algal toxin called neosaxitoxin into a long-lasting local anesthetic. At that time, Berde—together with Alberto Rodríguez-Navarro, MD, from Padre Hurtado Hospital in Santiago, Chile, and a Chilean company called Proteus SA—already knew that ... Read More about Safety trial of algal anesthetic kicks off
Uncategorized
Bryson’s story: Getting support for an anorectal malformation
The wait while a child has surgery can be excruciating for any parent, and Carrie and Brian Mueller are no exception. Even though it wasn’t the first procedure their son, Bryson, had undergone, they were still nervous when the time came for them to hand him over his clinical team. But before a nurse could ... Read More about Bryson’s story: Getting support for an anorectal malformation
Patient Stories
Nate’s all-star recovery from an ACL tear
Just a few decades ago, a child who tore their ACL faced years of reduced activity and inability to participate in sports. Surgical reconstruction was not an option as long as a child was growing. The procedure required drilling through the growth plate, and would disrupt future growth in the child’s affected leg. But in ... Read More about Nate’s all-star recovery from an ACL tear
Research
A perfect genetic hit: New gene mutation implicated in rare congenital diarrhea
When the 1-year-old boy arrived from overseas, he was relying on total parenteral nutrition — a way of bypassing the digestive system to provide nutrients and calories completely intravenously — to survive. From the time of his birth, he had experienced unexplainable diarrhea. Answers were desperately needed. Sequencing his genes in search of clues, neonatologists ... Read More about A perfect genetic hit: New gene mutation implicated in rare congenital diarrhea
Research
“Teenage” red blood cells could hold the key to a malaria vaccine
Malaria parasite infection, which affects our red blood cells, can be fatal. Currently, there are about 200 million malaria infections in the world each year and more than 400,000 people, mostly children, die of malaria each year. Now, studying blood samples from patients treated for malaria at a clinical field station in Brazil’s Amazon jungle, ... Read More about “Teenage” red blood cells could hold the key to a malaria vaccine
Research
Inhibiting inhibitory neurons gets mice with spinal cord injury to walk again
Most people with spinal cord injury are paralyzed from the injury site down, even when the cord isn’t completely severed. Why don’t the spared portions of the spinal cord keep working, allowing at least some movement? A new study just published online by Cell provides insight into why these nerve pathways remain quiet. Most intriguingly, it shows that ... Read More about Inhibiting inhibitory neurons gets mice with spinal cord injury to walk again
Research
A huge leap for cloning
Animal cloning, the creation of a genetically identical copy of an individual organism, holds promise for many different reasons, including its use to conserve endangered species and to improve our understanding of developmental biology, which could eventually help us prevent or reverse developmental disorders from the get-go. Although more than 20 species of animals have ... Read More about A huge leap for cloning