Archive for genetics and genomics
A new cancer mechanism: Failed cellular housekeeping
Cancer can stem from mutations in many different genes. New research from Boston Children’s Hospital and Dana-Farber Cancer Institute pinpoints a gene that, when mutated, causes cancer through a mechanism not before seen: Inability of cells to dispose of their trash, namely defective strands of RNA. This mechanism appears to cut across many different malignancies, ... Read More
Rethinking cerebral arachnoid cysts through genomics
Cerebral arachnoid cysts are the most common mass-occupying brain lesion in humans. Some cause no noticeable symptoms and may just be incidental findings. Others are quite severe, causing hydrocephalus and potentially nerve damage; these clearly require surgery to drain the cyst fluid and relieve pressure on the brain. But a middle ground sits between these ... Read More
Could gene therapy relieve post-hemorrhagic hydrocephalus?
Premature infants, especially very low birthweight babies, are at risk for intraventricular hemorrhage. A frequent complication of these brain bleeds is hydrocephalus, an accumulation of cerebrospinal fluid (CSF) in the brain ventricles that can gravely disrupt brain development. If hydrocephalus develops, a child may need shunt operations throughout life to manage the fluid buildup. Could ... Read More
Research offers guidance on genetic testing for cerebral palsy
A recent meta-analysis confirms what a small study at Boston Children’s found last year: About 1 in 4 children with cerebral palsy (CP) who had DNA testing had genetic variants likely to have caused or contributed to their condition. With the new data, the researchers have expanded the traditional view of the condition and offer ... Read More
A path forward for genetic testing in unexplained epilepsy
The number of genes implicated in epilepsy has grown rapidly in the past decade. This raises questions about what tests to offer to people with unexplained epilepsy and whether those tests would yield actionable information. Now, practice guidelines developed by genetic counselors at Boston Children’s Hospital offer a way forward. In the first systematic evidence ... Read More
Chromosomal testing expands options for exploring causes of SIDS
When an infant or young child dies without explanation, it is not uncommon for parents to blame themselves. In some cases, unfortunately, they may be wrongly investigated by the authorities, even as they yearn for answers themselves. Most often, these answers never come. But research is slowly starting to change that. Increasing evidence suggests that ... Read More
Genetic sequencing may open doors for newborns with hypotonia
When a baby is born with low muscle tone (hypotonia), the future is hard to predict, and families have a lot of questions. How should neonatologists care for these infants? Findings from a recent review could help provide some answers, guide appropriate interventions, and in some cases open the way to custom treatments. Diagnosing a ... Read More
The genetics of height: Coming close to cracking the code
More than 20 years ago, as a pediatric endocrinology fellow at Boston Children’s, Joel Hirschhorn, MD, PhD, saw many children with unusually short stature, and would often tell parents that their child was growing slowly because of genetic factors. But no height-related genes had yet been identified — in fact, scientists believed there were so ... Read More
With support for genetic condition trisomy 18, Brooklyn ‘tells her own story’
Erin and Tim Haggan quickly realized they would always be seeking answers after learning the child they were expecting had trisomy 18. It is a life-threatening chromosomal condition, and only about 10 percent of children live beyond their first year. Those who survive grow slowly and often have congenital heart defects (CHD) and other organ anomalies. The couple ... Read More
Children with psychotic symptoms may merit genetic testing, finds study
A 6-year-old boy began seeing ghosts, aliens in trees, and colored footprints. More disturbingly, he heard voices coming from the walls and the school intercom telling him to hurt himself and others. Joseph Gonzalez-Heydrich, MD, a psychiatrist at Boston Children’s Hospital, put him on antipsychotic medications at age 9. The frightening hallucinations stopped. While children ... Read More