Archive for genetics and genomics
Chloe navigates Marfan syndrome with a positive attitude — and a responsive care team
Chloe Burian has always defied expectations. Despite surgeries and other treatments for several conditions that stem from the genetic disorder Marfan syndrome, the 12-year-old remains upbeat. “Nothing bothers her,” says Chloe’s mom, Audrey. “She goes through life with a smile.” Still, there were moments of doubt along the way, especially when Audrey and her husband, Rudy, ... Read More about Chloe navigates Marfan syndrome with a positive attitude — and a responsive care team
Research aims to pinpoint genetic connection between autism and heart disease
Cardiology and neurodevelopmental researchers have more questions than answers about the possible genetic links between congenital heart disease (CHD) and autism spectrum disorder (ASD). A study that’s underway at Boston Children’s aims to pin down those elusive answers by taking a close look at the genetics of children with neurodevelopment and cardiovascular conditions. The researchers want to see ... Read More about Research aims to pinpoint genetic connection between autism and heart disease
Bringing equity to genomic sequencing in newborns: BabySeq 2.0
Today, nearly 900 disorders caused by a single gene are known to be treatable. Yet the recommended “heel stick” testing for newborns only covers about 60 inherited, treatable disorders, and many individual states screen for fewer. What if newborns could instead have their entire genome sequenced at birth, with the results shared and acted on ... Read More about Bringing equity to genomic sequencing in newborns: BabySeq 2.0
Here’s how genetic vision testing can help your family
At least 600 of the roughly 20,000 genes in the human body are needed for normal eyesight. Changes in those genes can lead to many eye conditions, including glaucoma, cataracts, and inherited retinal disorders. If your child has an inherited retinal disorder, they might benefit from genetic testing. It can help determine a diagnosis and how their ... Read More about Here’s how genetic vision testing can help your family
A global take on rare disease research: Maya Chopra, MBBS, FRACP
Several years ago, while working as a clinical geneticist at the Imagine Institute of Genetic Diseases in Paris, Dr. Maya Chopra saw a child with unexplained intellectual disability, a cleft palate, distinctive facial features, and an inability to speak. Through a genetic analysis, she and her colleagues identified a rare variant in one copy of ... Read More about A global take on rare disease research: Maya Chopra, MBBS, FRACP
Rapid DNA sequencing yields timely answers for infant epilepsy
Treating children with epilepsy has traditionally been a matter of trial and error, trying different drugs one after the other. In the one-third of patients for whom the drugs do not work and seizures continue, doctors consider brain surgery — if it can be done safely. Early in her career, Ann Poduri, MD, MPH, who ... Read More about Rapid DNA sequencing yields timely answers for infant epilepsy
Zika study reveals how infection can cause microcephaly
Prenatal exposure to viruses capable of infecting the fetal brain, particularly in the first trimester, can cause a range of developmental defects in the baby. The Zika epidemic in Brazil during 2015-2016 posed an extreme case, causing hundreds of babies to be born with microcephaly, or an abnormally small head. Although cases have waned significantly, ... Read More about Zika study reveals how infection can cause microcephaly
Facial weakness: A dark matter detective story
Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can impact a person’s appearance and impair social communication, making it hard to shift one’s eyes up, down, or sideways or adjust facial expressions. Each ... Read More about Facial weakness: A dark matter detective story
A family’s search for answers and hope for PACS1 syndrome
Alya, 9, was about three weeks old when her mother, Taruna, noticed movements and behaviors she was concerned might be seizures. What followed were multiple hospitals, multiple tests, and eventually a diagnosis of PACS1 syndrome. This rare genetic neurodevelopmental disorder can lead to intellectual disabilities and delays and currently has no cure. “We were told to ... Read More about A family’s search for answers and hope for PACS1 syndrome
Immune biomarkers predicted COVID-19 severity and could help in future pandemics
Why did some people fall critically ill from COVID-19 and others not? In May 2020, as COVID-19 swept the world, Boston Children’s Hospital helped launch a national, NIAID-funded study called IMPACC (IMmunoPhenotyping Assessment in a COVID-19 Cohort). Taking a “systems immunology” approach, the goal was to document the virus’s impact on the immune system in ... Read More about Immune biomarkers predicted COVID-19 severity and could help in future pandemics