Archive for genetics and genomics
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
Why do some children get MIS-C after COVID-19? Some early clues
Several months into the COVID-19 pandemic, a small number of children began to develop a cluster of mysterious symptoms. These included rashes, red eyes, gastrointestinal symptoms and, most worrisome, heart problems. Why does this serious illness, now known as multisystem inflammatory disorder in children (MIS-C), strike some previously healthy children? And who is most at ... Read More
A legend for Zora: How genomic testing provides answers in the face of grief
So often after a perinatal loss, parents are left with uncertainty about what caused their baby’s death and the haunting question, “what if.” To help grieving families find answers to these questions, Dr. Monica Wojcik and her colleagues in the Division of Newborn Medicine are conducting genomic autopsies to learn if and what genetic factors ... Read More
RNA-modifying protein offers a possible lead for treating aggressive cancers
A protein that modifies RNAs, called METTL1, could be a target for treating some aggressive, difficult-to-treat cancers, suggests new research in Molecular Cell. The study provides evidence that blocking METTL1 curbs cancer cells’ ability to grow, selectively killing them, and the researchers believe it could be targeted with drugs. METTL1 and related proteins had previously ... Read More
Why do some people get severe COVID-19? The nose may know
The body’s first encounter with SARS-CoV-2, the virus behind COVID-19, happens in the nose and throat, or nasopharynx. A new study in the journal Cell suggests that the first responses in this battleground help determine who will develop severe disease and who will get through with mild or no illness. Building on work published last ... Read More
The surprisingly specific genetics of joint disease
A new study provides unexpected insights into the biology of two common, heritable orthopedic conditions: developmental dysplasia of the hip (DDH) and knee osteoarthritis (OA). The findings, published July 6 in Nature Communications, show how a gene can have different effects in different parts of the body. They also raise the possibility of preventive measures ... Read More
A ‘pump’ gene’s surprising role in early brain formation
In polymicrogyria, the cortex of the brain has many irregular, small folds (gyria) and disorganization of its layers. Many affected children have severe developmental delay, intellectual disabilities, and epilepsy, and many need to use a wheelchair. Mutations in several different genes can cause this “overfolding of the brain” condition. Key takeaways The gene ATP1A3, associated ... Read More
Saving Laila: Family travels from Egypt for answers about rare genetic condition
When Aya Hendawy got off the plane that had brought her from Egypt to Boston, she didn’t linger in the airport or consider which tourist attractions to visit. Instead, she took a car directly to the Emergency Department at Boston Children’s Hospital, her daughter Laila in tow. “I asked them to please try to save ... Read More