sickle cell disease
I want to wish everyone a Happy New Year! Hope your 2018 is off to a great start.
Over the holidays, the journal Science published its annual, end-of-the-year list of research breakthroughs, from anthropology to zoology. I always look forward to seeing the list and reflecting on some of the stunning advances reported in the past 12 months. Last year was no exception. Science’s 2017 Breakthrough of the Year, as chosen by its editors, was in the field of astrophysics. Scientists were able to witness the effects of the collision of two neutron stars—large stars with collapsed inner cores—smacking into each other 130 million light years away. How cool is that!
Numbered prominently among the nine other breakthroughs were five from biomedicine: gene therapy, gene editing, cancer immunotherapy, cryo-EM, and biology preprints. All involved varying degrees of NIH support, and all drew great interest from readers. In fact, three of the top four vote-getters in the “People’s Choice” category came from biomedicine. That includes the People’s 2017 Breakthrough of the Year: gene therapy success. And so, in what has become a Director’s Blog tradition, I’ll kick off our new year of posts by taking a closer look at these biomedical breakthroughs—starting with the little girl in the collage above, and moving clockwise around the images:
Tags: 2017 Nobel Prize in Chemistry, ALL, axicabtagene ciloleucel, B-cell acute lymphoblastic leukemia, cancer, cancer immunotherapy, car t-cell therapy, CRISPR/Cas9, cryo-electron microscopy, cryo-EM, gene editing, gene therapy, Huntington's disease, immunotherapy, inherited retinal degenerations, Kymriah, mismatch repair, nusineren, pembrolizumab, preprints, RNA editing, Science’s 2017 Breakthrough of the Year, sickle cell disease, spinraza, tisagenlecleucel, wearable devices, Yescarta
My father was a folk song collector, and I grew up listening to the music of Woody Guthrie. On July 14th, folk music enthusiasts will be celebrating the 105th anniversary of Guthrie’s birth in his hometown of Okemah, OK. Besides being renowned for writing “This Land is Your Land” and other folk classics, Guthrie has another more tragic claim to fame: he provided the world with a glimpse at the devastation caused by a rare, inherited neurological disorder called Huntington’s disease.
When Guthrie died from complications of Huntington’s a half-century ago, the disease was untreatable. Sadly, it still is. But years of basic science advances, combined with the promise of innovative gene editing systems such as CRISPR/Cas9, are providing renewed hope that we will someday be able to treat or even cure Huntington’s disease, along with many other inherited disorders.
Tags: adult neurons, brain, CAG, CRISPR/Cas9, gene editing, genetics, genomics, HTT gene, huntingtin, Huntington's disease, inherited disease, misfolded proteins, muscular dystrophy, mutation, neurodegenerative disorders, neurological disorders, neuron, rare disease, sickle cell disease, striatum
Bone marrow transplants offer a way to cure leukemia, sickle cell disease, and a variety of other life-threatening blood disorders.There are two major problems, however: One is many patients don’t have a well-matched donor to provide the marrow needed to reconstitute their blood with healthy cells. Another is even with a well-matched donor, rejection or graft versus host disease can occur, and lifelong immunosuppression may be needed.
A much more powerful option would be to develop a means for every patient to serve as their own bone marrow donor. To address this challenge, researchers have been trying to develop reliable, lab-based methods for making the vital, blood-producing component of bone marrow: hematopoietic stem cells (HSCs).
Two new studies by NIH-funded research teams bring us closer to achieving this feat. In the first study, researchers developed a biochemical “recipe” to produce HSC-like cells from human induced pluripotent stem cells (iPSCs), which were derived from mature skin cells. In the second, researchers employed another approach to convert mature mouse endothelial cells, which line the inside of blood vessels, directly into self-renewing HSCs. When these HSCs were transplanted into mice, they fully reconstituted the animals’ blood systems with healthy red and white blood cells.
Tags: adult stem cell therapy, adult stem cells, B cells, blood, blood cells, blood disorders, blood stem cells, bone marrow transplant, bone marrow transplantation, cell reprogramming, endothelial cells, graft versus host disease, hematopoietic stem cells, HSC, HSCs, immune system, immunosuppression, induced Pluripotent Stem cells, iPS cells, iPSCs, leukemia, red blood cells, regenerative medicine, sickle cell disease, stem cells, T cells, transcription factors, white blood cells
Birds do it, bees do it, and even educated fleas do it. No, not fall in love, as the late Ella Fitzgerald so famously sang. Birds and insects can see polarized light—that is, light waves transmitted in a single directional plane—in ways that provides them with a far more colorful and detailed view of the world than is possible with the human eye.
Still, thanks to innovations in microscope technology, scientists have been able to tap into the power of polarized light vision to explore the inner workings of many complex biological systems, including the brain. In this image, researchers used a recently developed polarized light microscope to trace the spatial orientation of neurons in a thin section of the mouse midbrain. Neurons that stretch horizontally appear green, while those oriented at a 45-degree angle are pinkish-red and those at 225 degrees are purplish-blue. What’s amazing is that these colors don’t involve staining or tagging the cells with fluorescent markers: the colors are generated strictly from the light interacting with the physical orientation of each neuron.
Tags: Alzheimer’s disease, Biophysical Society’s 2017 Art of Science Image Contest, brain, brain imaging, cancer, imaging, interference, light, malaria, microscopy, midbrain, multicolor microscopy, neurology, neurons, neuroscience, optics, physics, polarized light, polarized light microscopy, polscope, polychromatic polscope, sickle cell disease