Certain variations in the DNA sequence of the vitamin D receptor (VDR) gene increase the risk for obesity in patients with type 2 diabetes, a South Korean study reports. The study, “The Associations Between Vitamin D Receptor BsmI and ApaI Polymorphisms and Obesity in Korean Patients with…
A case study of a baby with Bardet-Biedl syndrome (BBS) highlights the unusual respiratory features that result from inheriting two mutant copies of the BBS10 gene. The report, “Bardet-Biedl syndrome presenting with laryngeal web…
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…
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