Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
A new computer model is able to simulate how red blood cells become misshapen in patients with sickle cell disease. The model may be useful in identifying which medicines could be beneficial for preventing the development of sickled cells. The study about that research, “Quantitative prediction of erythrocyte sickling for…
The former professional rugby player Ade Adebisi, a sickle cell disease patient and advocate, has been named brand ambassador for Sickle Scan, BioMedomics’ rapid disease diagnostic tool. Currently vice chairman and general manager of the Nigeria Rugby League Association, Adebisi will represent what’s touted as the world’s first rapid…
ReachBio Research Labs has created a drug screening platform to discover therapeutic compounds that trigger the production of fetal hemoglobin (HbF) to treat sickle cell disease (SCD) and other blood disorders. SCD belongs to a group of inherited disorders known as hemoglobinopathies, primarily caused by mutations in…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
An upcoming analysis by the Institute for Clinical and Economic Review (ICER) will compare the clinical efficacy and economic value of Novartis’ crizanlizumab and Global Blood Therapeutics‘ voxelotor, lead candidate therapies for sickle cell disease (SCD). ICER’s report will be discussed during its…
A new way to monitor blood cells that doesn’t require microscopic imaging or biochemical markers may allow for better management of sickle cell disease, a study suggests. The study, “Electrical Impedance Characterization of Erythrocyte Response to Cyclic Hypoxia in Sickle Cell Disease,” was published in the…
African-Americans with sickle cell trait, carriers for sickle cell but without the disease, have no greater risk of cognitive decline than other adults of similar age, an analysis of a large population study shows. The study “Sickle cell trait and risk of cognitive impairment in African-Americans: The REGARDS cohort” was…
Survival of sickle cell disease patients (SCD) with end-stage renal disease who undergo kidney transplant is significantly lower compared to other renal disease patients who have the same procedure, a retrospective analysis shows. That finding, “Survival and specific outcome of sickle cell disease patients after renal transplantation,” was…
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