Archive for rare disease
A small act of kindness: Blood donations get Sadie off the sidelines after her aplastic anemia diagnosis
In March of 2024, Sadie’s life was interrupted. A busy high school senior with classes to attend, soccer matches to play, and a much-anticipated trip to France on the horizon, Sadie was very active and felt generally healthy. But when a follow-up appointment at her pediatrician’s office led to an urgent referral to Boston Children’s ... Read More about A small act of kindness: Blood donations get Sadie off the sidelines after her aplastic anemia diagnosis
Changing lives through genetics: The Children’s Rare Disease Collaborative
A 14-year-old girl was having back pain after a car accident and visited an orthopedic clinic at Boston Children’s Hospital. In the course of her care, she joined the Children’s Rare Disease Collaborative (CRDC), a hospital-wide effort to enroll children and adults with rare diseases in genetic studies. Genetic testing revealed that both she and ... Read More about Changing lives through genetics: The Children’s Rare Disease Collaborative
Making genome sequencing a first-line test in rare disease
Children with rare diseases often undergo years of medical visits and genetic testing before they get a diagnosis. Over the past few years, clinics have started to embrace exome sequencing as a first genetic test, skipping time-consuming testing of individual genes and gene panels and getting to a diagnosis faster. But exome sequencing doesn’t always ... Read More about Making genome sequencing a first-line test in rare disease
In the genetics of congenital heart disease, noncoding DNA fills in some blanks
Researchers have been chipping away at the genetic causes of congenital heart disease (CHD) for a couple of decades. About 45 percent of cases of CHD have an identifiable cause, including chromosomal abnormalities, genetic variants affecting protein-coding genes, and environmental factors. What about the rest of the cases of CHD? Noncoding DNA elements have long ... Read More about In the genetics of congenital heart disease, noncoding DNA fills in some blanks
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
Microvillus inclusion disease: From organoids to new treatments
Microvillus inclusion disease (MVID) is a rare type of congenital enteropathy in infants that causes devastating diarrhea and an inability to absorb food. Infants can lose liters of fluid a day, become severely dehydrated, and stop growing. There is no specific treatment. “Until about 10 years ago, 50 percent of kids with MVID would die ... Read More about Microvillus inclusion disease: From organoids to new treatments
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
Blood donations help Kit manage Diamond-Blackfan anemia — so she can dance, sing, and enjoy life
Every month, Kit Murdoch needs a blood transfusion to stay alive. The 2-year-old has Diamond-Blackfan anemia, a rare genetic blood disorder that, if untreated, prevents blood from delivering oxygen through the body. While it has been a devastating diagnosis for Kit’s parents, they’re grateful for the specialized care she receives and are constantly amazed that people ... Read More about Blood donations help Kit manage Diamond-Blackfan anemia — so she can dance, sing, and enjoy life
Calm through the storm: Connor’s ulcerative colitis journey
When you meet Connor today, he’s a confident 13-year-old who is incredibly laid back when he speaks about his complex medical condition. This school year, he plans on playing basketball and running track. “I like hanging out with my friends and traveling — now I can do all these things without being in pain.” However, ... Read More about Calm through the storm: Connor’s ulcerative colitis journey
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