Archive for genetics and genomics
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
A new view of heart health: Mutations accumulate in the heart starting in childhood
Why do so many people get heart disease when they get older? We know that factors like high blood pressure or high cholesterol contribute to heart disease risk, but they don’t explain all cases. A first-of-its-kind study from Boston Children’s Hospital offers a new lens on heart health. It shows that the cells of our ... Read More
Genomic ‘fingerprinting’ yields better treatments for pediatric solid cancers
Genomic profiling is increasingly used for solid tumors in adults and for pediatric brain tumors and blood cancers, allowing treatments to be matched to patients’ mutations. But for children with solid tumors, genomic fingerprinting has been elusive, because these cancers are so varied and individually so rare. Therapies therefore remain non-specific: chemotherapy, surgery, and/or radiation. ... Read More
A new angle on the cause of Alzheimer’s disease: Accumulating brain mutations
Alzheimer’s disease is marked by a loss of functional neurons in the brain. But what causes this loss? A new study reveals that people with Alzheimer’s have an abundance of newly acquired mutations in their neurons — more than people of the same age without Alzheimer’s, and enough to disable genes important to brain function. ... Read More
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