Archive for rare disease
Made-to-order therapies get a boost with new FDA guidelines
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 one. In 2017, researchers at Boston Children’s Hospital made history, creating a customized drug for a girl named Mila with Batten disease. The drug blocked ... 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
Gliomatosis cerebri: ‘As long as you keep going, you still have hope’
Anna Arabia, the only child of Kathy and Joe Arabia of North Adams, Massachusetts, was 13 when she was diagnosed with gliomatosis cerebri, a rare, rapidly-growing brain cancer. Unlike other tumors, gliomatosis cerebri does not form into lumps; instead it is threadlike, invading multiple lobes of the brain, making it impossible to remove surgically. Anna ... Read More
Pearson syndrome and the story of William’s cells
William will often ask to hear the “story about his cells.” His mom and dad, Elizabeth and Jeff Reynolds, are always honest. Yet, it is difficult for the 4-year-old to understand words like mitochondrial disease or myelodysplastic syndrome. He also can’t comprehend his parents’ pursuit of a novel treatment for Pearson syndrome, which led them ... Read More
A mother’s quest to find a cure for Shwachman-Diamond syndrome
Poppy Inez Hawkins is a born entertainer. Her favorite song is “Fire” by Kasabian. She loves kitchen disco. And she can frequently be found staging performances in the Hawkins-family living room at their home in London, England — free tickets provided and clapping encouraged. “She talks to everyone and will tell anyone who wants to ... Read More