According to a recent article in Check Orphan, genetic and biochemical testing are combined in a new method of metabolic testing called the CentoMetabolic panel. The announcement comes from…
According to a story from Medical Xpress, a recent study conducted by researchers from the UNC School of Medicine has illustrated that the accumulation of sticky, abnormal mucus, along with…
Mastocytosis Mastocytosis is a rare disease caused by mutations in the KIT gene. The condition causes mast cells to accumulate in the body. Depending on the location of these immune…
According to a publication from Neuroscience News, a team of researchers has managed to examine how amyotrophic lateral sclerosis (ALS) progresses on a cellular level for the first time. The…
According to a press release from the Muscular Dystrophy Association published at Biospace, the group has resolved to award eight new research grants for the study of amyotrophic lateral sclerosis…
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An article in BioSpace reports new information published online by the NEJM concerning Hirschsprung disease. The disease involves the absence of nerves in parts of the intestines prior to birth. Researchers…
Nigam Shah and Purvesh Khatri, professors at Stanford University, along with graduate student Madeleine Scott have just announced results from a research study which could be pivotal for those living…
Tracheostomies in ALS A tracheostomy is essentially an invasive procedure which helps patients breathe. It also removes secretions from their lungs. Doctors cut an opening into the patient's neck and…
Glioblastoma Glioblastoma is a rare cancer which begins in the brain. Approximately 20% of all tumors that occur in the brain are glioblastomas. These tumors are highly malignant because they…
According to a story from CheckOrphan, there are currently very few effective treatment options for chordoma, a rare, slow growing tumor that originates from bone. However, a recent research discovery…
According to a story from MD Magazine, the team at Spatial Transcriptomics has utilized an innovative computational approach in order to map gene expression on the spinal cords of patients…
Bronchiectasis Bronchiectasis is a rare lung disease that currently has no cure and no effective treatment. It causes parts of the airways to become enlarged which results in lung damage.…
ACHM and XLRP Achromatopsia (ACHM) is a rare, inherited retinal disease which causes impaired cone photoreceptor function. Patients experience light sensitivity so extreme that it can cause blindness during the…
According to a story from news-medical.net, a pair of researchers affiliated with the University of Houston are planning to dedicate their time to improving detection and monitoring of lupus nephritis,…
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An article in Austin Gastroenterology recently asks this question. It also confirmed what we already know, that genetic testing is now available to the average person and in fact,…
Optiz C Syndrome Optiz C syndrome (OCS) is an ultra-rare condition whose symptoms are often mistaken for Bohring-Optiz syndrome, Kabuki syndrome, or Kleefstra syndrome. The disease affects patients physical and…
According to a story from Pulmonary Hypertension News, many patients with the rare disease sarcoidosis frequently experience lung complications. Included in these complications is pulmonary hypertension, a condition of elevated…
BOS Bronchiolitis obliterans syndrome (BOS) occurs in 50% of patients who endure a lung transplant. In essence, the patient's immune system attacks the bronchioles in the new lung, causing blockages.…
Huntington's Disease & SCAs Huntington's disease (HD) and spinocerebellar ataxia (SCA) are both neurodegenerative diseases caused by the same type of error in the body's DNA. Essentially, the CAG or…
GO-ALIVE GO-ALIVE was a Phase 3 clinical trial examining the safety and the efficacy of Simponi Aria in ankylosing spondylitis (AS). Simponi was first approved by the FDA in 2009.…
According to a publication from the University of Edinburgh, a new study found a set of 37 genes that were highly expressed in breast cancer tumour-associated macrophages (or TAMs -…
According to a publication from EurekAlert, a recent study suggests a common, typically symptomless form of the herpes virus called cytomegalovirus may cause faster disease progression in cystic fibrosis (CF)…
According to a release from Sangamo Therapeutics and published by PR Newswire, experimental severe hemophilia A drug SB-525 proved to be well-tolerated and generally safe in a phase 1/2 clinical…
According to an article at HealthEuropa, including patients and their families as an important component of cystic fibrosis research is a requirement when developing future treatments for the disease. That's…
According to an article at ScienceDaily, a combination of immunotherapy and chemotherapy therapies caused pancreatic cancer tumors to shrink in the majority of patients in a phase 1b clinical trial.…
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