Archive for genetics and genomics
The journey to a treatment for hereditary spastic paraplegia
In 2016, Darius Ebrahimi-Fakhari, MD, PhD, a neurology fellow at Boston Children’s Hospital, met two little girls with spasticity and decreased muscle tone in their legs, which affected their walking. Both girls, Robbie Edwards and Molly Duffy, had been diagnosed with hereditary spastic paraplegia (HSP), a group of more than 80 genetic conditions. Untreated, the ... Read More about The journey to a treatment for hereditary spastic paraplegia
When diagnosis is just the first step: The Brain Gene Registry
Through advances in genetic sequencing, many children with rare, unidentified neurodevelopmental disorders are finally having their mysteries solved. But are they? “Once families receive results of genetic testing, that’s just the beginning of a new journey,” says Maya Chopra, MBBS, FRACP, an investigator with the Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital. ... Read More about When diagnosis is just the first step: The Brain Gene Registry
Researchers identify genes that could affect children’s bone growth
Many children anticipate reaching the next number on a measuring stick as they chart their growth. But measurements can be frustrating or stressful for children who have skeletal disorders that prevent bones from growing. Key findings Researchers used genome-wide association studies and CRISPR gene editing to see if alterations to cartilage cells, which are known ... Read More about Researchers identify genes that could affect children’s bone growth
Treatment for the vision condition achromatopsia helps Aiden embrace the outdoors
A lot of things excite 10-year-old Aiden Flaherty: drums, soccer, skiing, video games. But lately, he’s also found joy in a quieter, less active pursuit: watching leaves move on trees. He loves being outdoors during the daytime and taking in all that nature offers. It’s something he only recently could do after receiving retinal gene ... Read More about Treatment for the vision condition achromatopsia helps Aiden embrace the outdoors
Could ADHD be diagnosed genetically?
Despite it being very common, ADHD is often missed until a child reaches age 7 or older. By that time, they have likely been struggling socially and in school. Could early genetic testing be part of the solution? Anne Arnett, PhD, in partnership with Ryan Doan, PhD, at Boston Children’s Hospital, set out to see ... Read More about Could ADHD be diagnosed genetically?
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