Archive for genetics and genomics
Finding answers and care for a rare movement disorder: Aisha’s experience with deep brain stimulation
For nearly a decade, Aisha’s family looked for answers about a disease they couldn’t name. Born in Bahrain in 2006, Aisha was about a year old when her mother, Mariam, noticed involuntary movements in her face and lips. As she grew, Aisha showed delays in walking, speech, and other developmental milestones. Despite years of appointments ... Read More about Finding answers and care for a rare movement disorder: Aisha’s experience with deep brain stimulation
العثور على إجابات ورعاية لاضطراب حركي نادر: تجربة Aisha مع التحفيز العميق للدماغ
لقرابة عقد، بحثت عائلة Aisha عن إجابات لمرض عجزوا عن تسميته، بدأ منذ طفولتها المبكرة. ولدت Aisha في البحرين عام 2006، وكانت تبلغ من العمر عامًا واحدًا تقريبًا عندما لاحظت والدتها، Mariam، حركات لاإرادية في وجهها وشفتيها. ومع نموها، ظهر لدى Aisha تأخر في المشي والكلام والجوانب التطورية الأخرى. ورغم سنوات من المراجعات والفحوصات الطبية ... Read More about العثور على إجابات ورعاية لاضطراب حركي نادر: تجربة Aisha مع التحفيز العميق للدماغ
Hope in a new home: A family’s journey with HHT
When Yeiden Pérez Camacho imagines the future, he sees himself on a basketball court. At 13, he’s already an award-winning athlete in several sports, including basketball, volleyball, tennis, and table tennis. His 8-year-old sister, Adienee “Adi” Pérez Camacho, is a budding gymnast who loves cooking and crafting with her family. Yeiden and Adi grew up ... Read More about Hope in a new home: A family’s journey with HHT
A case for Kennedy — and for rapid genomic testing in every NICU
Kennedy was born in August 2025 after what her parents, John and Diana, describe as an uneventful pregnancy. Soon after delivery, though, she struggled to breathe and feed. What followed was a series of hospital stays, a complex diagnosis, and a glimpse into how rapid genomic testing can deliver answers that guide critical decisions and ... Read More about A case for Kennedy — and for rapid genomic testing in every NICU
The journey to a treatment for hereditary spastic paraplegia
In 2016, Darius Ebrahimi-Fakhari, MD, PhD, then 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), which comprises a group of more than 80 genetic ... Read More about The journey to a treatment for hereditary spastic paraplegia
New research paves the way to a better understanding of telomeres
Much the way the caps on the ends of a shoelace prevent it from fraying, telomeres — regions of repetitive DNA sequences and a protein structure — protect the tips of chromosomes from damage. Every time our cells divide, telomeres lose a bit of that DNA. Eventually, telomeres become so short that they can no ... Read More about New research paves the way to a better understanding of telomeres
New research sheds light on the genetic roots of amblyopia
For decades, amblyopia has been considered a disorder primarily caused by abnormal visual experiences early in life. But new research from Mary Whitman, MD, PhD, pediatric ophthalmologist in the Department of Ophthalmology at Boston Children’s Hospital, and her colleagues suggests the story is more complicated. “There may be underlying neurodevelopmental differences in children with amblyopia ... Read More about New research sheds light on the genetic roots of amblyopia
Thanks to Carter and his family, people are talking about spastic paraplegia
Nine-year-old Carter may be the most devoted — and popular — sports fan in his Connecticut town. “He loves all sports,” says his mother, Natalie. Whenever one of Carter’s buddies has a game, Natalie’s phone lights up with texts asking if he can attend. As his friends play, Carter cheers and gives high fives from his ... Read More about Thanks to Carter and his family, people are talking about spastic paraplegia
Genetic causes of congenital diarrhea and enteropathy come into focus
Congenital diarrheas and enteropathies are rare and devastating for infants and children. Treatments have consisted mainly of fluid and nutritional management. But in recent years, targeted dietary and drug therapies have emerged based on genetic discoveries. Now, research led by Boston Children’s Hospital, The Hospital for Sick Children in Toronto, and UCLA takes a major ... Read More about Genetic causes of congenital diarrhea and enteropathy come into focus
Genomic sequencing transforms a life: Asa’s story
Asa Cibelli feels like he’s been reborn. The straight-A middle schooler plays basketball and football, does jiu jitsu, is learning guitar, and can solve a Rubik’s cube in 40 seconds flat. But he once wondered if he’d ever feel better. From birth, Asa experienced chronic abdominal pain and severe diarrhea. The many doctors he saw ... Read More about Genomic sequencing transforms a life: Asa’s story