Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science…
Scientists at London’s University College and a team of scientists at Stanford University simultaneously made the same discovery about amyotrophic lateral sclerosis (ALS): the genetic variant in the protein UNC13A…
The question plaguing the geneticists about the Burns family was: how have they survived? In 2016, several geneticists theorized that certain people may have a good-gene bad-gene scenario taking place…
According to a recent article in Yahoo News, unless treatment is discovered or a cure is found for a disorder called IRF2BPL, these young children will lose the ability to…
In the past, some researchers believed that fibromuscular dysplasia was a rare disease. While some researchers estimate that the incidence is actually much higher than reported, there is still a…
With genetic disorders, there is always a big question: do specific gene mutations respond differently to treatment? How can treatment be targeted to best suit the needs of patients? According…
According to a study from Hindawi, a team of scientists have reported the discovery of never before seen mutations that are linked to Alport syndrome, a rare kidney disease. These…
In a recent study, researchers have uncovered a second gene located within the mitochondria that is associated with Charcot-Marie-Tooth Disease (CMT). This study was recently published in Annals of Neurology. CMT…
In the past, researchers have questioned the exact cause of spina bifida, a neural tube defect in which the spine does not fully close around the developing spinal cord nerves.…
Medical professionals have already discovered a number of genes that play a role in pulmonary arterial hypertension (PAH), but according to LabRoots, they have found a new one. The ABCC8…
In Spain, a young child showed signs of muscle atrophy and difficulty walking; she wasn't quite stable on her feet and struggled with balance and coordination. But it wasn't until…
When this 20-year-old male patient was serving in the military, he came down with two severe medical issues: pneumonia and adrenal crisis, categorized by an issue with an adrenal hormone…
The following blog post was written on October 4th, 2016 by a #raredad whose daughter is battling a chronic illness. With his permission, we are republishing this powerful memory here.…
Remember that questionable-looking salad you ate in a not-exactly-pristine restaurant? You've been trying to forget the server's blackened fingernails and sweaty brow, and as you double over from abdominal pain, you…
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