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Genetics: a cosmic role of the dice that plays a role in so many medical conditions, including bladder cancer. Mutations in FGFR3, PIK3CA, KDM6A, and TP53 are commonly associated with bladder cancer, but…
According to an article in Inside Precision Medicine Researchers have developed a new, easy-to-use test called SHINE-TB that can quickly diagnose tuberculosis (TB) using saliva samples. This test is based…
Researchers in Japan have developed a personalized mRNA vaccine that shows promise for treating recurrent gastric cancer, specifically peritoneal metastasis, which is often difficult to manage with existing therapies. This…
Kevan Chandler, was born with a rare, and progressive neuromuscular disease: spinal muscular atrophy (SMA). At age 33, he needs assistance with almost all activities of daily living, from eating…
Each year, nearly half a million Americans are affected by Lyme disease, a tick-borne illness that, if untreated, can lead to serious complications like arthritis, heart issues, and neurological disorders.…
Acknowledgement: Patient Worthy is honored to share this story from our friends at GACI Global. To view the original article, please click here. Sharon’s passion for children shines in her…
Danielle’s baby boy had a long and terrifying seizure on the 4th of July six years ago. The family was at her mother’s home. Both Danielle and her mother are…
Do you know about Lafora Disease? This rare genetic disease begins during adolescence. Your child starts their life healthy and whole, but then they decline, cognitively and physically, until they…
Myrovlytis Trust, a UK-based charity and Patient Worthy partner, has developed a new resource for those facing osteosarcoma. This devastating cancer often occurs in childhood, teen, and young adult years.…
Phenylketonuria, or PKU, is a rare inborn error of metabolism caused by a defect in the PAH gene that prohibits the correct production of an enzyme needed to process the…
"Rock Bottom" is the story of a family who’s second born child, a son named Ashton, was born with Mucolipidosis Type II, a disease so rare and so frequently mistaken…
David Rowland, age 85, has been nourished from food, not chewed, and swallowed, but inserted into his stomach through a permanently placed tube, for the past 12 years following treatment…
In the roulette wheel of rare genetic diseases, there are many heart-breaking conditions. GM1 gangliosidosis, Tay-Sachs disease, and Neimann-Pick disease are three of the rare lysosomal diseases that have devastating…
Perhaps 70- 85% of rare diseases have a root in genetics, - which is why continuous research and reporting is so critical for those with rare conditions. This is exactly…
GRIN2B Disorders are rare changes in the GRIN2B gene, some causing gain of function, some loss of function, and others unusual neurotransmissions, but all resulting in a variety, and a…
For many rare diseases, gene therapy, not traditional therapeutics, is perhaps the only means to significant relief and cure. However, the path to gene therapy has been strewn with obstacles…
On February 1, 2023, FDA issued a Draft Guidance Document, called “Considerations for the Design and Conduct of Externally Controlled Trials for Drug and Biological Products” (Docket ID: FDA-2022-D-2983). The Draft Guidance considers…
Heidi Jo Price, beautiful and brave, has jumped out of airplanes with a pack on her back as a member of the 173 Airborne Brigade Combat Team. What brought this…
The EveryLife Foundation for Rare Diseases hosted a panel discussion on Right to Try Proposals, as part of their 2018 Legislative Program for Rare Disease Week on Capitol Hill. What…
United in Progress is the tag line for a unique collaborative effort to speed progress in identifying, understanding and treating hemophilia: My Life Our Future. Increasingly in the area of rare…
It is absolutely and unequivocally clear : “The PKU diet must include a medical product, usually consumed as a beverage. There are several brands available that are nutritionally suitable for…
In 1972 William S. Sly, first identified a rare, progressive and devastating condition, which came to be known as Sly Syndrome, now known as MPS VII. This syndrome affects almost…
It is Patient Worthy’s pleasure to report on the first International Acromegaly conference which brought together acromegaly support groups from East and West Canada,- The Vancouver and Atlantic Acromegaly support…
The International Myotonic Dystrophy Consortium was held in San Francisco last month and while Patient Worthy was not there in person we were fortunate to have a family reporting from the…
On September 28th, 2017 at 9 PM EST, a new online, mindfulness-based, stress reduction course will be given by none other than the extraordinary Julie Desch, MD. She is a physician…
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