rare-diseases

ObjectiveChina released two batches of the Rare Disease Catalog in 2018 and 2023, respectively, listing a total of 207 diseases. This study aims to analyze the accessibility of medications for diseases included in the catalog and assess the impact of drug regulatory reforms on the supply of medications for rare diseases.MethodsThis study compiled five categories of information on drugs for 207 ra…

Not all broken genes fail in the same way: some simply stop working, while others interfere with what still works.

On the occasion of Rare Disease Day, the GRIN Europe patients association is highlighting the emotional, societal and clinical implications of living with a rare GRIN disease and calls for cross-disease and interdisciplinary collaborations across national borders and medical specialties.

What to know about homocystinuria Homocystinuria, an inherited disorder, is a rare metabolic condition that impacts 1 in 335,000 people worldwide and is present from birth. Often abbreviated as HCU or HCY, homocystinuria is a genetic disorder that inhibits the body from processing certain amino acids found in proteins, causing a harmful buildup of homocysteine and methionine. As a result of this …

How are iGEM Teams Using Synthetic Biology for Tackling Rare Diseases | Rare Diseases Day 2024 This article is written by Neha Suresh, the Project Head for SynBio for Rare Diseases (currently recruiting project members) iGEM Teams covered in this article: Florida State University iGEM 2023, Massachusetts Institute of Technology: iGEM 2021, TU-Eindhoven: iGEM 2022 Rare Disease Day is observed on t…

In a groundbreaking development for the treatment of Hereditary Hemorrhagic Telangiectasia (HHT), a rare and life-threatening vascular disorder, nonprofit organization cureHHT has officially launched a Phase II/III clinical trial for […]

Swansea University is set to play a key role in a new platform aimed at bringing together UK strengths in the research of rare diseases to develop better and faster understanding, diagnosis and treatment.

Each year on February 28th we shine a spotlight on rare disease research. There are thousands of rare diseases, and many stem from inheriting a single pathogenic gene. Traditional medicine can make patients comfortable and help ameliorate symptoms, but cannot address the root cause of disease, necessitating lifelong treatment. But exciting new innovations in gene therapy may finally allow researc…

Contributing Author: Gina Hagler There are 7,000 known rare diseases in the world. Each of them affects less than 1% of the global population, although ultra-rare diseases affect fewer still. The majority of rare and ultra-rare diseases are monogenic in nature, meaning they are caused by an error in a single gene. Years ago, a rare disease diagnosis left parents with their worst fears realized an…

There are nearly 7,000 rare diseases affecting approximately 1% of the global population. When your child is affected with one of these rare diseases, and it is so rare it does not even have a name, what do you do? Amber Freed’s decision was to fight like a mother. She recently shared with us what that means for her and her son, Maxwell. Birth and Growing Concerns Maxwell and his sister, Riley, w…