Archive for genetics and genomics
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
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
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
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
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
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
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
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
‘Human accelerated regions’: How they make our brains uniquely human
Starting when humans diverged from chimpanzees some 5 to 6 million years ago, we’ve evolved in our uniquely human fashion thanks to changes in our genome. And certain parts of the human genome, known as human accelerated regions or HARs, have evolved especially rapidly. Intriguing new work led by Christopher Walsh, MD, PhD, of Boston ... Read More
Trial for severe asthma targets a mutation common in children of color
Children and adults of color have higher rates of asthma than white people, as well as more hospitalizations and deaths. There are many reasons for this disparity, including more exposure to allergens and pollutants and differences in asthma care. One difference, however, is genetic. A mutation that causes severe, hard-to-treat asthma, in the gene ILR4, ... Read More