News

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Skeletal muscle regulates how the body stores and metabolizes fats through the Krüppel-like factor 15 (KLF15) gene, establishing a molecular link between muscle health and conditions such as obesity and diabetes, according to a recent study in mice. The findings also showed that a diet rich in short-chain fatty acids…

Native Hawaiians of Polynesian ancestry are at an increased risk of obesity, heart failure, and type 2 diabetes, a study has found. The greater risk of diabetes is linked to a genetic variant that is uniquely prevalent in Native Hawaiians. The study, “…

Suppressing the activity of a cellular transporter called multidrug resistance protein 4 (Mrp4) results in more fat tissue, less energy expenditure, and insulin resistance, according to a study in mice. These findings suggest that lower-than-normal Mrp4 levels can increase the risk of developing metabolic diseases such as obesity and type…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Scripps Research and Tempus are launching a study that uses genetic and other information to better understand what drives the development of obesity and type 2 diabetes. By understanding how and why individual blood sugar levels change in response to food, researchers hope to improve the treatment of…

Genetic predisposition, mental health symptoms, personality traits, substance abuse, and high body mass index (BMI) all are early risk factors for eating disorders in adolescence, a study has determined. These findings may have clinical implications for preventing and treating disordered eating behaviors, especially among teenagers, the…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Rhythm Pharmaceuticals has identified 31 additional genes whose mutations may be amenable to setmelanotide, its U.S.-approved therapy for genetic obesity disorders linked to the melanocortin-4 receptor (MC4R) pathway. This discovery is the result of Rhythm’s sequencing efforts and precision approach that has been recently validated in a Phase…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…