According to a story from EurekAlert!, a recent discovery related to myelin, a fatty acid that coats neurons, could have significant implications for diseases that impact it, such as multiple…
What is Homocystinuria? Classical homocystinuria, or HCU, is a rare metabolic condition which its caused by a deficiency of the CBS enzyme. It results in high levels of homocysteine in…
In February 2020, Epigenetics published results of a study reporting that researchers have found an early sign of Alzheimer’s disease in DNA modification (methylation) that had been overlooked. Patients…
Research findings can sometimes come from unexpected places. For example, according to Parkinson's News Today, the benefits and shortcomings of an investigative gene therapy were explored through the post-mortem analysis…
As originally reported in Fabry Disease News, the potentially fatal genetic disorder Fabry disease can be diagnosed most effectively in infancy by newborn screening programs. By identifying the disease early,…
According to a story from Pulmonary Hypertension News, the results of a recent phase 3 clinical trial have determined that patients with connective tissue disease-associated pulmonary arterial hypertension (CTD-PAH) stand…
In May of 2019, the FDA approved a new therapy for Spinal Muscular Atrophy (SMA) called Zolgensma. Now, that therapy has been approved by the Japanese Ministry of Health, Labour…
Published in Social Science & Medicine, a recent study conducted by Drexel University has shed light on how, even in a world of evolving precision medicine, there is also merit in…
According to a story from BioPorfolio, a recent study first published in STEM CELLS Translational Medicine describes a unique stem cell procedure that has the potential to be a major step…
According to a story from mdmag.com, a phase 2 trial testing the drug avapritinib as a treatment for systemic mastocytosis is currently ongoing. The results so far suggest that the…
If the world were as careful in everyday life Perhaps I’d be sick less, I’d feel much less strife It's the small precautions, like washing your hands That for me…
According to a story from Healio, a recent study that was published in the scientific journal BMC Rheumatology revealed that it was uncommon for patients living with ankylosing spondylitis to switch from…
By Jodee Redmond from In The Cloud Copy Massachusetts Institute of Technology (MIT) researchers have recently announced they have identified hundreds of genes that are required for neuron survival. The…
By Rachel Whetstone from In The Cloud Copy New research is exploring the relationship between circadian rhythms in the brain and bacterial fragments. It’s possible that bacteria has an influence…
Chronic granulomatous disease (CGD) is a rare form of immunodeficiency. The most common form of this disease is X-linked chronic granulomatous disease (X-CGD) which is caused by a mutated CYBB gene. This…
As originally reported in Discover Magazine, Huda Zoghbi took an unexpected route to winning the Breakthrough Prize in Life Sciences in 2017 for her discoveries of the genes responsible for…
Researchers all over the world are hard at work trying to develop both treatments for Covid-19 and vaccines for the illness. Professors of rheumatology at the University of Alabama, Randy…
According to a story from Healio, chronic kidney disease and diabetes are closely related. Kidney disease is unfortunately a frequent complication of both type 1 and 2 diabetes. In the…
According to a story from gurufocus, the biotechnology company QED Therapeutics recently announced that the first patients have been dosed in separate phase 2 and phase 3 clinical studies testing…
Rare disease advocates in India are pushing for the Health Ministry to create a new fund for rare diseases. Additionally, they're pushing for medicines and medical equipment used for these…
A new Phase 1 clinical trial for celiac disease has just begun dosing patients. This trial is being run by Anokion SA. Celiac Disease Celiac disease is an autoimmune condition…
Pyoderma gangraenosum (PG) is a rare auto inflammatory disease which affects the skin. It unfortunately has no currently approved therapies. However, recent preliminary results from a Phase 2a trial have…
The Problem with Identifying the Genes that Cause a Genetic Disorder from In The Cloud Copy When it comes to genetic disorders, it can be very difficult to pinpoint exactly what…
According to a story from BioSpace, GeneTx Biotherapeutics LLC and Ultragenyx Pharmaceutical, Inc. have recently announced that the first patient has been dosed in the companies' phase 1/2 clinical trial.…
According to a story from BioSpace, the testing of drugs in clinical trials to address the current coronavirus/COVID-19 pandemic will soon be under way. The biopharmaceutical company Sanofi and the…
© Copyright 2024 Patient Worthy
Sign Up With a Patient Worthy Account and Share Your Rare Story
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
