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Madrid, December 3, 2025 - The research laboratory of the Dravet Syndrome Foundation was one of the initiatives awarded 3,000 Euros in the 11th edition of the Somos Pacientes ("We…
Author's Note: Patient Worthy began following Natera following their presentation at the American College of Medical Genetics conference many years ago. Natera has been known for its advances in prenatal…
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…
Lord Julian Fellowes, the Oscar-winning creator of Downton Abbey, has undergone a transformative treatment for essential tremor (ET) using Insightec’s magnetic resonance-guided focused ultrasound (MRgFUS) technology. After living with the…
Each year, Patient Worthy covers the American College of Medical Genetics conference, the leading source of both genetic education for health care professionals and a leading source of new information…
Pancreatic cancer took Alex Trebek, Michael Landon, Ruth Bader Ginsburg, Luciano Pavarotti, Steve Jobs, Patrick Swayze, and my dear friend Amy. Glioblastoma (GBM) took Senators John McCain and Ted Kennedy,…
Editor's Note: Patient Worthy is proud to share this list of resources for those living with stomach cancer. No Stomach for Cancer- This organization has a global reach and specializes…
Genetic testing is now more available than ever before. For those who suspect a genetic disorder, the best route is often through a genetic counselor. They can advise you not…
Acknowledgement: Patient Worthy is honored to share this story by Erika Stariha, Co-Founder and President of SATB2 Europe. This is Urban, my teenage firstborn. He is joyful. Curious. Full of…
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…
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