Archive for hematology
A universal gene therapy for Diamond-Blackfan anemia is poised for clinical testing
Diamond-Blackfan anemia (DBA), first described at Boston Children’s Hospital in 1938, is a rare blood disorder in which the bone marrow cannot make mature, functioning red blood cells. Children with this life-threatening anemia have few treatment options. A small handful with a well-matched donor can be cured with bone marrow transplant, but most rely on ... Read More about A universal gene therapy for Diamond-Blackfan anemia is poised for clinical testing
Sickle cell gene therapy and boosting fetal hemoglobin: A 75-year history
Ed. Note: This post updates an earlier post from 2018. In a landmark decision today, the Food and Drug Administration (FDA) approved two gene therapies for sickle cell disease. One of them, Casgevy, has deep scientific roots at Boston Children’s Hospital — and is also the first therapy using CRISPR gene editing to gain FDA ... Read More about Sickle cell gene therapy and boosting fetal hemoglobin: A 75-year history
The clot thickens: Kellie Machlus, PhD
Part of an ongoing series profiling researchers at Boston Children’s Hospital. Platelets are the bandages of our blood, forming clots when we sustain an injury. Yet little is known about how they’re made, and there are no drugs that can immediately and directly trigger their production. Boston Children’s Hospital researcher Kellie Machlus, PhD, (@theclotthickens) couldn’t ... Read More about The clot thickens: Kellie Machlus, PhD
Playing the long game: An exciting discovery in telomere disease
Each time our cells divide, the protective caps that keep our chromosomes from fraying, called telomeres, lose a bit of their DNA. Telomeres shorten steadily as we age, but in certain medical conditions like dyskeratosis congenita, the process is accelerated. “Your telomeres determine your lifeline; how long they are determines how old your body is,” ... Read More about Playing the long game: An exciting discovery in telomere disease
Could we make blood anywhere in the body?
Our bodies make blood in a specialized niche — a “nursery” within our bone marrow that nurtures blood stem cells so they can replicate and make different kinds of blood cells. The lab of Leonard Zon, MD, has even shown how blood stem cells, once they settle in the niche, are “cuddled” by nearby cells. ... Read More about Could we make blood anywhere in the body?
How a leukemia hijacks the genes needed by blood stem cells
As a child, Lynn Aureli didn’t know that a particular genetic change contributed to her acute myeloid leukemia (AML) — an alteration that eventually would help explain the cancer’s lack of response to chemotherapy. Nor was she aware that her cancer had hijacked the genetic mechanism for maintaining the stem cells that form blood, like ... Read More about How a leukemia hijacks the genes needed by blood stem cells
‘Mom, my brain feels better.’ One mother’s story of her daughter’s fight with epilepsy
Liliane has a lot to be grateful for this holiday season. Until just this year, her 16-year-old daughter Emily, who has epilepsy, suffered relentless seizures that left her temporarily unable to speak or stand. The seizures began when Emily was 4, and living her life around them was all she knew. But today, Emily is ... Read More about ‘Mom, my brain feels better.’ One mother’s story of her daughter’s fight with epilepsy
Tim Springer: Scientist, entrepreneur, and mentor
As an undergraduate in 1966, immunologist, biochemist, and biophysicist Timothy A. Springer, PhD, looked askance at science. The Vietnam War was going on, and he saw science as a means of making Agent Orange and napalm. Questioning his own Ivy League education, he left Yale to spend a year as a VISTA volunteer on a ... Read More about Tim Springer: Scientist, entrepreneur, and mentor
New work transforms our knowledge of how blood is formed
The origins of our blood may not be quite what we thought. In groundbreaking research, scientists in the Stem Cell Program at Boston Children’s Hospital used cellular “barcoding” techniques in mice to track the development of blood in real time — and found that blood cells originate not from one type of mother cell, but ... Read More about New work transforms our knowledge of how blood is formed
Sickle cell disease, gene therapy, and blood cancers: Mysteries remain
Gene therapy trials for sickle cell disease have been showing great promise, even offering hope of a cure. But in early 2021, the trials ground to a halt after reports of blood malignancies in two people in a trial sponsored by bluebird bio. Investigations later concluded that the gene therapy delivery vectors were likely not ... Read More about Sickle cell disease, gene therapy, and blood cancers: Mysteries remain