Current Sickle Cell Disease News and Events

Current Sickle Cell Disease News and Events, Sickle Cell Disease News Articles.
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Scientists identify potential contributor to hyper immune responses in patients with severe COVID-19
Researchers have pinpointed a helper T cell population in the lungs of patients with severe COVID-19 that may be central to the development of hyperinflammation, lung injury, and subsequent acute respiratory distress syndrome (ARDS) during disease (2021-02-23)

Absence of natural killer cell receptor associated with severe Covid-19
The course and severity of COVID-19 in individual patients is largely influenced by the interaction between the SARS-CoV-2 coronavirus and the human immune system. The NKG2C receptor communicates with an infected cell via one of its specialised surface structures, HLA-E, which results in the destruction of virus-infected cells. However, due to a genetic variation, approximately 4% of the population naturally lack the this receptor NKG2C, and in 30% of the population this receptor is only partially available. (2021-02-22)

FSU College of Medicine researcher develops new possibilities to prevent sudden cardiac death
Stephen Chelko, an assistant professor of biomedical sciences at the Florida State University College of Medicine, has developed a better understanding of the pathological characteristics behind arrhythmogenic cardiomyopathy, as well as promising avenues for prevention. (2021-02-17)

Affordable CRISPR app reveals unintended mutations at site of CRISPR gene repair
Scientists have developed an affordable, downloadable app that scans for potential unintended mistakes when CRISPR is used to repair mutations that cause disease. The app reveals potentially risky DNA alterations that could impede efforts to safely use CRISPR to correct mutations in conditions like sickle cell disease and cystic fibrosis. The development of the new tool, called DECODR (which stands for Deconvolution of Complex DNA Repair), was reported today in The CRISPR Journal by researchers from ChristianaCare's Gene Editing Institute. (2021-02-11)

Nutrition, companionship reduce pain in mice with sickle cell disease, UCI-led study finds
Researchers from the University of California, Irvine and the University of Minnesota have found that an enriched diet and companionship can reduce pain in mice with sickle cell disease by increasing serotonin. They also discovered that duloxetine, an antidepressant that boosts serotonin levels, could be an alternative to opioids in treating chronic pain. (2021-02-01)

Why it is harder for Brazilians of African descent to find bone marrow donors
According to a study published in Frontiers in Immunology, the reason is their genetic heterogeneity and lack of proportional representation in the Brazilian bone marrow bank. (2021-02-01)

A potentially safer, more effective gene therapy vector for blood disorders
Researchers at Children's Hospital of Philadelphia (CHOP) have developed a gene therapy vector for blood disorders like sickle cell disease and beta-thalassemia that is potentially safer and more effective than those currently used in gene therapy trials for those conditions. The vector, an engineered vehicle for delivering functional copies of the hemoglobin gene to correct a genetic abnormality, leads to the production of more hemoglobin with a lower dose, minimizing the risk of toxic side effects. (2021-01-29)

Genome-editing tool TALEN outperforms CRISPR-Cas9 in tightly packed DNA
Researchers used single-molecule imaging to compare the genome-editing tools CRISPR-Cas9 and TALEN. Their experiments revealed that TALEN is up to five times more efficient than CRISPR-Cas9 in parts of the genome, called heterochromatin, that are densely packed. Fragile X syndrome, sickle cell anemia, beta-thalassemia and other diseases are the result of genetic defects in the heterochromatin. (2021-01-27)

Study finds genetic clues to pneumonia risk and COVID-19 disparities
Researchers at Vanderbilt University Medical Center and colleagues have identified genetic factors that increase the risk for developing pneumonia and its severe, life-threatening consequences. (2021-01-21)

CRISPR technology to cure sickle cell disease at UIC
The first cases treated with gene-editing technology were recently published in an article co-authored by Dr. Damiano Rondelli, the Michael Reese Professor of Hematology at the UIC College of Medicine. The article reports two patients have been cured of beta thalassemia and sickle cell disease after their own genes were edited with CRISPR-Cas9 technology. The two researchers who invented this technology received the Nobel Prize in Chemistry in 2020. (2021-01-20)

New taxonomy of non-skeletal rare disorders with impact on bone
A new paper published in Orphanet Journal of Rare Diseases by the International Osteoporosis Foundation (IOF) Skeletal Rare Diseases Working Group provides a first taxonomic classification of selected non-skeletal rare congenital disorders with an impact on bone physiology on the basis of phenotypes. The diseases have been described according to the systemic disease; genetic defect; pathophysiology of bone phenotype; and therapy, where available. (2021-01-12)

Wait for me: Cell biologists decipher signal that ensures no chromosome is left behind
UC San Diego cell biologists have found a key clue in the mystery of how chromosomes are inherited correctly every time a cell divides. Using a novel cell probe, they unraveled how a 'matchmaker' molecule stops cell division until components are ready to be split. Precise chromosome duplication is a key factor in proper cell division. If components are altered, even slightly, birth defects and certain cancers can result. (2021-01-06)

Brain stem cells divide over months
For the first time, scientists at the University of Zurich have been able to observe the way stem cells in the adult brains of mice divide over the course of months to create new nerve cells. Their study shows that brain stem cells are active over a long period, and thus provides new insights that will feed into stem cell research. (2020-12-21)

Diseased cell fragments burst from pockets in immune cells to activate response
Researchers at the Francis Crick Institute have uncovered an important process in how our immune system detects signs of disease and activates a protective response. This understanding could improve efforts to find new and effective immunotherapy treatments for diseases like cancer. (2020-12-21)

New toolkit aims to improve quality of thrombosis data in COVID-19 trials
The ASH Research Collaborative (ASH RC) and the International Society of Haemostasis and Thrombosis (ISTH), two organizations with multidisciplinary expertise in blood clotting and bleeding disorders, have developed a toolkit to help clinical researchers from across medical disciplines design clinical trials that further the understanding of blood clotting events associated with COVID-19. (2020-12-17)

A gene from ancient bacteria helps ticks spread Lyme disease
One reason ticks spread Lyme disease so well goes back to a unique evolutionary event. Researchers reporting in the journal Cell on December 10, 2020 discovered that an antibacterial enzyme in ticks, Dae2, protects them from bacteria found on human skin, while still allowing them to harbor Borrelia burgdorferi, the bacterium that causes Lyme disease. Ticks acquired the gene for this enzyme 40 million years ago from an unknown species of ancient bacteria. (2020-12-10)

Gut research identifies key cellular changes associated with childhood-onset Crohn's Disease
Scientists have tracked the very early stages of human foetal gut development in incredible detail, and found specific cell functions that appear to be reactivated in the gut of children with Crohn's Disease. The results are an important step towards better management and treatment of this devastating condition. (2020-12-07)

CAR T cell therapy effective as first-line treatment for high-risk large B-cell lymphoma
A study led by researchers at The University of Texas MD Anderson Cancer Center found that axi-cel, an autologous anti-CD19 chimeric antigen receptor (CAR) T cell therapy, is a safe and effective first-line therapy for patients with high-risk large B-cell lymphoma (LBCL), a group with an urgent need for new and effective treatments. (2020-12-06)

Integrated anemia-SCD test demonstrates accurate results in study at 2020 ASH meeting
Researchers from Case Western Reserve University presented research today in which Hemex Health's affordable Gazelle platform diagnostic technology successfully tested 46 patients with 100% sensitivity and over 92.3% specificity for anemia and with 100% accuracy for hemoglobin variants. The preliminary study included blood samples collected from Cleveland-area patients studied for anemia and sickle cell disease. (2020-12-05)

New method identifies adaptive mutations in complex evolving populations
A research team co-led by a scientist at the Hong Kong University of Science and Technology has developed a method to study how HIV mutates to escape the immune system in multiple patients, which could inform HIV vaccine design. (2020-11-30)

Gene therapy gives man with sickle cell disease the chance for a better future
Watch a video about Evie's treatment with an experimental gene therapy for sickle cell disease here: https://www.youtube.com/watch?v=XmQJpuLx07Y (2020-11-30)

Stem cell-based screen identifies potential new treatments
In a recent study published in Stem Cell Reports, Seba Almedawar, PhD, and colleagues with the Center for Regenerative Therapies TU Dresden, Germany, used induced pluripotent stem cells (iPSCs) derived from the skin of healthy donors and of patients with retinitis pigmentosa to find drugs with the potential to enhance RPE phagocytosis. (2020-11-25)

Many unresolved questions remain regarding T cell immunity to SARS-CoV-2
T cell responses are critical for providing early control and clearance of many viral infections, but there remain many unknowns concerning T cell immunity in COVID-19. Some T cell responses may even have a detrimental impact on the clinical outcome and contribute to long COVID, a phenomenon that affects roughly 10% of COVID-19 patients, causing them to experience an array of symptoms for a month or longer. (2020-11-18)

Novel technique 'stuns' arthritis pain in shoulder and hip
A novel outpatient procedure offers lasting pain relief for patients suffering from moderate to severe arthritis in their hip and shoulder joints, according to a study presented at the annual meeting of the Radiological Society of North America (RSNA). Researchers said the procedure could help reduce reliance on addictive opiates. (2020-11-16)

New technique isolates brain cells associated with Parkinson's disease
Carnegie Mellon University researchers have developed a new technique for isolating a type of brain cell associated with Parkinson's disease symptoms, enabling them to study that cell type in detail. (2020-11-16)

HKUST scientists make breakthrough discovery of new therapeutic targets for Alzheimer's
An HKUST team have identified several new potential molecular targets in endothelial cells and microglia for AD drug development. (2020-11-05)

New assay screens human brain organoids, doubles known candidate genes for microcephaly
A new tissue screening assay for human cerebral organoids identified 25 additional candidate genes for microcephaly, nearly doubling the number of currently known genes linked to the rare neurological condition. (2020-10-29)

Langerhans cells are up to the job, they just need a chance
Researchers from the University of Tsukuba found that Langerhans cells (LCs) play a crucial role in mucocutaneous acute guest-versus-host disease (aGVHD). Their experiments in mice showed that when the LCs of a recipient were depleted, the formation of mucocutaneous lesions was enhanced because the infiltration of CD8+ T cells was inhibited. Their findings have significant implications for improving blood stem cell transplantation treatments and clinical outcomes for patients. (2020-10-27)

Poverty linked to higher risk of death in children with cancer undergoing transplant
Despite the increasing use and promise of hematopoietic cell transplantation (HCT) as curative therapy for children with cancer and other life-threatening diseases, new research suggests that children transplanted for cancer are more likely to die from treatment-related complications if they live in poorer neighborhoods. The study, published today in the journal Blood, also found that having Medicaid versus private insurance, another marker of poverty, was associated with a higher chance of dying. (2020-10-26)

Acute kidney injury among African Americans with sickle cell trait and disease
New research examines the risk of acute kidney injury in people with sickle cell trait or disease, as well as the effect of acute kidney injury on kidney function decline in these individuals. Results from the study will be presented online during ASN Kidney Week 2020 Reimagined October 19-October 25. (2020-10-23)

New technology diagnoses sickle cell disease in record time
Researchers have developed a new way to diagnose diseases of the blood like sickle cell disease with sensitivity and precision and in only one minute. (2020-10-15)

Researchers identify the mechanism behind bone marrow failure in Fanconi anaemia
Researchers at the University of Helsinki and the Dana-Farber Cancer Institute have identified the mechanism behind bone marrow failure developing in children that suffer from Fanconi anaemia. (2020-10-14)

As genome-editing trials become more common, informed consent is changing
As public interest and expanded research in human genome editing grows, many questions remain about ethical, legal and social implications of the technology. People who are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. This makes properly understanding informed consent, the full knowledge of risks and benefits of treatments, especially important. (2020-10-12)

VAV1 gene mutations trigger T-cell tumors in mice
Researchers at the University of Tsukuba have shown how mutations in the VAV1 gene may trigger T-cell neoplasia in laboratory mice. Using cutting-edge research techniques including generation of specific transgenic mice models, tumor cell transplantation, whole transcriptome analysis, whole exome sequencing and in vivo treatment, the team was able to clarify the molecular pathways of T-cell tumor formation. These experimental protocols and animal models may be useful in evaluating novel treatments for such tumors. (2020-10-11)

Inside mitochondria and their fascinating genome
EPFL scientists have observed -- for the first time in living cells -- the way mitochondria distribute their transcriptome throughout the cell, and it involves RNA granules that turn out to be highly fluid. (2020-09-28)

Unconventional T cell subset enriched in airways of some patients with severe COVID-19
Unconventional T cells called mucosa-associated invariant T (MAIT) cells are recruited to the airways and strongly activated in some patients with severe COVID-19, a new study has found, suggesting the cells' possible involvement in the development of disease. (2020-09-28)

Study suggests older Western Europeans could already have systemic 'profile' that makes them susceptible to severe COVID-19
New research presented the ESCMID Conference on Coronavirus Disease (ECCVID, online 23-25 September) shows that the severe COVID-19 immunological profile, represented by changes in cell populations and circulating inflammatory proteins, is already partly present in older healthy individuals (2020-09-24)

Study reveals higher COVID-19 mortality in men could be explained by differences in circulating proteins and immune system cells
New research presented at the ESCMID Conference on Coronavirus Diseases (ECCVID, online 23-25 September) suggests that the higher risk of poor COVID-19 outcomes in men could be explained by differences in circulating proteins and immune system cells compared with women. The study is by Gizem Kilic, Radbound University Medical Center, Nijmegen, Netherlands, and colleagues. (2020-09-24)

How Dantu Blood Group protects against malaria - and how all humans could benefit
The secret of how the Dantu genetic blood variant helps to protect against malaria has been revealed for the first time by scientists at the Wellcome Sanger Institute, the University of Cambridge and the KEMRI-Wellcome Trust Research Programme, Kenya. The team found that red blood cells in people with the rare Dantu blood variant have a higher surface tension that prevents them from being invaded by the world's deadliest malaria parasite, Plasmodium falciparum. (2020-09-16)

Stem cell function may explain higher colon cancer rate in males
In research recently published in Stem Cell Reports, Jingxin Li (ljingxin@sdu.edu.cn), Dawei Chen (dawei.chen@uliege.be) and colleagues found that androgen levels can regulate intestinal stem cell proliferation, a new potential link between androgen levels and colon cancer. (2020-09-10)

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