Archive for genetics and genomics
Beyond fluid buildup: Rethinking congenital hydrocephalus
Hydrocephalus is classically seen as a plumbing problem, the result of too much cerebrospinal fluid (CSF) in the brain or dysregulation of fluid flow. It is usually treated with shunts to drain the CSF, or with ETV/CPC, which makes a small hole to drain the CSF and burns off the choroid plexus tissue that produces ... Read More about Beyond fluid buildup: Rethinking congenital hydrocephalus
Targeting treatments for vascular anomalies, courtesy of cancer genetics
Vascular anomalies — overgrowths or malformations of the capillaries, veins, arteries, and/or lymphatic vessels — often confound physicians, especially in acute settings. They encompass a diverse group of conditions, all of them rare, and can affect multiple body systems. Many physicians have never encountered vascular anomalies and may be unaware of the risks they sometimes ... Read More about Targeting treatments for vascular anomalies, courtesy of cancer genetics
Using genetics to glimpse newborns’ future with congenital heart disease
Aside from infections, congenital heart disease (CHD) is the leading cause of infant mortality. Informed by babies she sees in the NICU, Sarah Morton, MD, PhD, attending physician in the Division of Newborn Medicine at Boston Children’s, has devoted her career to understanding CHD’s genetic causes. Her findings are shedding light on what parents and ... Read More about Using genetics to glimpse newborns’ future with congenital heart disease
Real-time genomic surveillance of bacteria could improve antibiotic therapy
Antibiotic-resistant bacterial infections are increasingly hard to treat, causing more than a million deaths annually around the world. Hospitalized patients with pneumonia, bloodstream infections, urinary tract infections, or abdominal infections are especially at risk. Like a game of Whac-A-Mole, bacteria can develop antibiotic resistance mutations within days of starting an antibiotic, only to be replaced ... Read More about Real-time genomic surveillance of bacteria could improve antibiotic therapy
Sudden, unexplained child deaths often have a genetic cause
When a baby or toddler dies without warning, parents often blame themselves. A study at Boston Children’s may provide some insight into sudden, unexplained child deaths and perhaps a measure of closure. It suggests that at least 10 percent of children who die suddenly have an undiagnosed genetic condition that caused or contributed to their ... Read More about Sudden, unexplained child deaths often have a genetic cause
Rethinking the origins of cerebral palsy
Cerebral palsy (CP) has widely been viewed as the result of perinatal oxygen deprivation or other birth-related factors like prematurity. For many children, this is true. But new work from Boston Children’s finds that up to 1 in 4 have an underlying genetic condition with the potential to change the approach to their care. Findings ... Read More about Rethinking the origins of cerebral palsy
Bringing genomics to community NICUs
About a year and a half ago, Robert Rothstein, MD, FAAP encountered a baby with a pattern of facial features and clinical findings that suggested a genetic syndrome. The available tests couldn’t pinpoint a diagnosis, and the family wanted a more definitive answer. So Rothstein and his colleagues transferred the newborn from Baystate Medical Center ... Read More about Bringing genomics to community NICUs
It takes a village: Creating best practices for personalized treatments
In 2019, doctors and scientists at Boston Children’s Hospital announced a medical landmark. In the space of one year, a team led by Timothy Yu, MD, PhD, pinpointed a one-of-a-kind genetic mutation in a girl named Mila with Batten disease, developed a custom drug called milasen to repair the mutation, and treated Mila with it. ... Read More about It takes a village: Creating best practices for personalized treatments
Solving neurodevelopmental mysteries, one gene, one child at a time
Suheil Day was born early, at 37 weeks. Aside from a slight head lag and mild muscle weakness, nothing seemed terribly amiss. But as the months progressed, he began having seizures. “At the age of 4 to 5 months, he started waking up screaming and crying excessively, his eyes rolling up into his head,” says ... Read More about Solving neurodevelopmental mysteries, one gene, one child at a time
Diving deep on epilepsy genetics
When child neurologist Annapurna Poduri, MD, MPH finished her clinical epilepsy fellowship at Boston Children’s Hospital in 2004, she was struck to find that the genetic understanding of epilepsy had changed little in the decade since she started medical school. Many questions were unanswered — and some weren’t yet being asked. Existing treatments were still ... Read More about Diving deep on epilepsy genetics