Archive for rare disease
Gene therapy to boost fetal hemoglobin continues to do well in sickle cell trial
A pilot gene therapy treatment for sickle cell disease, restoring patients’ ability to make fetal hemoglobin, has produced good results in the first three patients to receive it. Investigators at Boston Children’s Hospital reported the findings of their ongoing clinical trial this week at the American Society of Hematology (ASH) annual meeting. The three adult ... Read More about Gene therapy to boost fetal hemoglobin continues to do well in sickle cell trial
A potential Diamond-Blackfan anemia treatment swims into view
Zebrafish, besides being popular in aquariums, make good stand-ins for studying human diseases. They share about 70 percent of their genes with humans, and can be studied at a mass scale, enabling scientists to test hundreds, even thousands of drugs at a time simply by adding the drug to their water. One such test came ... Read More about A potential Diamond-Blackfan anemia treatment swims into view
Tagged: anemia, blood, rare disease, zebrafish
Unlocking a treatment for diffuse intrinsic pontine glioma
Diffuse intrinsic pontine glioma (DIPG) is a highly aggressive and one of the most difficult-to-treat childhood tumors. It’s the second most common malignant brain tumor, as well as the leading cause of brain tumor death among children. “It’s essentially 100 percent fatal,” says Katherine Warren, MD, clinical director for Pediatric Neuro-Oncology at Dana-Farber/Boston Children’s Cancer and ... Read More about Unlocking a treatment for diffuse intrinsic pontine glioma
Tagged: cancer, rare disease
Low enrollment stymies completion of rare disease clinical trials
Rare diseases are anything but rare when taken together. In the United States alone, they affect nearly 30 million people. Yet clinical trials for rare diseases are frequently incomplete or go unpublished in the medical literature, finds a study published today in the journal PLOS Medicine. Analyzing 659 trials, researchers at Boston Children’s Hospital found ... Read More about Low enrollment stymies completion of rare disease clinical trials
Tagged: clinical trials, rare disease
Staff spotlight: Meet genetic counselor Beth Rosen Sheidley
In honor of Genetic Counselor Awareness Day, we sat down with Beth Rosen Sheidley, MS, CGC, co-director of the Epilepsy Genetics Program at Boston Children’s Hospital, to learn about the field and practice of genetic counseling. What is the role of a genetic counselor? There are about 30 genetic counselors at Boston Children’s across many different departments and ... Read More about Staff spotlight: Meet genetic counselor Beth Rosen Sheidley
Mermaid Caitlyn and her mer-doctor face interstitial lung disease
Our daughter Caitlyn’s first year-and-a-half of life was a puzzle. She was getting sicker and sicker and no one near our home in New York could figure her out. After a period of unexplained rashes and weight loss, our pediatrician’s office said to us, “Something’s wrong and we don’t know what it is. Put her ... Read More about Mermaid Caitlyn and her mer-doctor face interstitial lung disease
Life with Li-Fraumeni syndrome
On the first day of school, 16-year-old Darcey Boucher carefully laid out what she was wearing: black jeans, a white T-shirt, black sweatshirt, white Vans — and her wig. Darcey has osteosarcoma, a rare form of bone cancer. She had surgery in May to remove the tumor from her leg. And now, she is on ... Read More about Life with Li-Fraumeni syndrome
Tagged: cancer, rare disease
Teen author dedicates a children’s book to her twin brother with Shwachman-Diamond syndrome
Sophia Namazy, 14, has a hero: it’s her twin brother Max, who has Shwachman-Diamond syndrome. This is a rare and very serious genetic condition that impacts multiple systems in the body, including the bone marrow, pancreas, skeleton, and immune system. Although her brother is currently doing well, people with this disease have a high risk ... Read More about Teen author dedicates a children’s book to her twin brother with Shwachman-Diamond syndrome
Tagged: leukemia, rare disease, research
While enjoying college, Ewing sarcoma survivor looks to her past
It lacks sunsets and skylines, but Maddie Carlson loves the view from her dorm room at Emmanuel College in Boston. If the 20-year-old junior sticks her head out the window at just the right angle, she can almost make out a portion of the place she credits for saving her life after she was diagnosed ... Read More about While enjoying college, Ewing sarcoma survivor looks to her past
Tagged: cancer, clinical trials, rare disease
Sofie’s story: A new gene therapy treatment for SMA
Sofie Petrovická sits up in the exam room, smiling and laughing with her physical therapist, Elizabeth Maczek. Though she’s just over a year old, sitting on her own is no minor feat for Sofie — in fact, it’s nothing short of a miracle. Sofie was just 3 months old when she was diagnosed with spinal ... Read More about Sofie’s story: A new gene therapy treatment for SMA
Tagged: gene therapy, neurology, rare disease, spinal muscular atrophy