Archive for rare disease
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
Pleuropulmonary blastoma: Caring for Cal
Each time the UPS truck makes its way up Becky Baker’s driveway in Lyons, New York, her 3-year-old grandson, Cal, is certain there’s a package for him. Today, the delivery is in fact for Cal — but not exactly the drivable mini Jeep he was hoping for. “Those are your diapers, buddy,” his grandmother says, ... 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
Made-to-order therapies get a boost with new FDA guidelines
Ed. note: Mila passed away in February, 2021, at age 10. The Mila’s Miracle Foundation continues to work to pave a pathway for personalized treatments. Science-based treatments for rare genetic diseases have burgeoned in the past decade. That includes diseases so rare they affect just a handful of patients — or in some cases, just ... Read More
It’s personal: How the Boston Children’s progeria research community brought new life to an old drug
In late November, the U.S. Food and Drug Administration (FDA) approved a repurposed cancer drug called lonafarnib to treat Hutchinson-Gilford progeria syndrome, better known as progeria — an ultra-rare incurable genetic disease associated with rapid aging. On average, children with progeria die before age 15, usually the result of rapidly accelerated atherosclerosis resulting in heart ... Read More
Gene therapy’s future may be all about the bases
Gene therapy offers the possibility of a cure for many genetic disorders, especially those involving a single gene. The first kind of gene therapy used a virus to carry a corrected copy of the gene into people’s cells. When the early viral vectors used in the 1990s were found to have off-target effects, sometimes even ... Read More
New drug pathway linked with tuberous sclerosis
Tuberous sclerosis complex (TSC) is a neurological disorder causing non-cancerous tumors, called cortical tubers, to grow throughout the brain and body, as well as other conditions like epilepsy and autism. While medications are used to treat some of the manifestations of the disease, safe and more effective treatments targeting disease at a fundamental level are ... Read More
A drug treatment for telomere diseases?
For years, Donna Martin carried a piece of scrap paper with the words “dyskeratosis congenita,” which she believed might explain her son Brad’s sudden, mysterious affliction. A routine blood test had revealed Brad’s bone marrow was failing, unable to keep up with his need for healthy blood cells. His condition, Donna knew, would worsen over ... Read More
Gene therapy reverses heart failure in mouse model of Barth syndrome
Barth syndrome is a rare metabolic disease caused by mutation of a gene called tafazzin or TAZ. It can cause life-threatening heart failure and also weakens the skeletal muscles, undercuts the immune response, and impairs overall growth. Because Barth syndrome is X-linked, it almost always occurs in boys. There is no cure or specific treatment. ... Read More
Mouse/human model provides new way to study neuroblastoma
Neuroblastoma is a rare childhood cancer affecting about 800 children each year in the United States. Because of its unusual behavior — tumors in infants often disappear spontaneously without treatment while it can be aggressive and fatal in toddlers — studying the disease has been complicated. That may change with a new research tool: a ... Read More