Archive for rare disease
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 about A mother’s quest to find a cure for Shwachman-Diamond syndrome
Relationship talks: Staying together through a child’s illness
Among the many stresses of having an ill or injured child, parents often feel a strain on their marriage. Whenever she can, clinical social worker Katherine Preston, LICSW, reassures families that a child’s illness does not automatically spell the end of the parents’ relationship. Based on studies of families facing childhood cancer and diabetes, Preston ... Read More about Relationship talks: Staying together through a child’s illness
Going into science: Women scientists at Boston Children’s offer advice to girls
In honor of the International Day of Women and Girls in Science (February 11), we invited women scientists at all stages of their careers at Boston Children’s Hospital to share their scientific agendas. Here is some of what they had to say. The scientists also offered their advice for girls interested in entering the field. ... Read More about Going into science: Women scientists at Boston Children’s offer advice to girls
Tagged: autism, blood, brain tumor, cancer, cellular and molecular medicine, epigenetics, epilepsy, family partnerships, genetics and genomics, hematology, hiv and aids, imaging, metabolism, neuroscience, newborn medicine, prematurity, psychiatry, pulmonology, rare disease, stem cells, traumatic brain injury
Scarlette: Hoping for a bright future with PK deficiency
Two-year-old Scarlette Walker loves pink. For her January visit to the Hematology Clinic at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, she wore a shocking pink hat and pink dress. “She picked them out herself,” says her mom, Olivia. She even has a pink alter ego. “She pretends she is a pink helicopter named Dizzy. If ... Read More about Scarlette: Hoping for a bright future with PK deficiency
Tagged: blood, rare disease
Diving deep: Understanding skeletal conditions with fish models
From fragile ice fish deep in the Antarctic Ocean to flying fish gliding above the Caribbean sea, fish have evolved a fascinating variety of skeletal traits. These traits not only help them adapt to their environments, they are also providing genetic insights into rare human skeletal disorders. Fish are not as genetically different from us ... Read More about Diving deep: Understanding skeletal conditions with fish models
Good early results with gene therapy for rare immune deficiency
Brenden Whittaker, a college student in Ohio, has been caught off guard by his good health. Since he was young, a rare immune deficiency known as chronic granulomatous disease (CGD) had left him vulnerable to life-threatening infections. He was used to going in and out of the hospital, and then hooking up to an IV ... Read More about Good early results with gene therapy for rare immune deficiency
Tagged: blood, gene therapy, immune disorders, rare disease
Bone marrow-on-a-chip provides new research directions for Shwachman-Diamond syndrome
A new research tool that mimics the behavior of diseased bone marrow provides a new strategy for understanding the bone marrow disease, Shwachman-Diamond syndrome (SDS), and hopefully, developing new treatments. With SDS, bone marrow fails to produce blood cells normally, leading to bone marrow failure and an increased risk of leukemia. In a research paper ... Read More about Bone marrow-on-a-chip provides new research directions for Shwachman-Diamond syndrome
Tagged: blood, gene therapy, laboratory tools, leukemia, rare disease
Decoding sickle cell disease offers new outlook for Lamarcus
When Lamarcus Jean visits the Hematology Clinic at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, he makes himself right at home. The 6-year-old, whom his mom, Stephanie, describes as “wise beyond his years,” has been a patient here since he was born. Lamarcus has sickle cell disease, an inherited blood disorder caused by a mutation ... Read More about Decoding sickle cell disease offers new outlook for Lamarcus
Tagged: blood, rare disease, research, sickle cell disease
Advice for moyamoya families from a mom who’s been there
About a year ago, our 4-year-old daughter, Kalea, started having headaches. After four months, we called our pediatrician because the headaches were far from normal for Kalea and had progressed enough to become worrisome. The pediatrician advised us to track her headaches, and we learned that they fluctuated in frequency but were increasing in intensity. ... Read More about Advice for moyamoya families from a mom who’s been there
Tagged: moyamoya, neurology, neurosurgery, rare disease
Targeted small-molecule agent shows early promise against a dangerous infant leukemia
Leukemias involving reshuffling or rearrangement of the mixed lineage leukemia (MLL) gene, known as MLL-rearranged or MLL-r leukemias, account for 70 to 80 percent of acute leukemias in infants under one year old. In these blood cancers, a subset of acute myeloid and acute lymphoid leukemias (AML and ALL), the MLL gene breaks and reattaches ... Read More about Targeted small-molecule agent shows early promise against a dangerous infant leukemia
Tagged: cancer, drug development, epigenetics, leukemia, rare disease