News

Two variants of the Alström syndrome 1 (ALMS1) gene can increase the risk of heart attack in Chinese people with early onset coronary artery disease (CAD), a study reports. The study, “Association between ALMS 1 variants and early-onset coronary artery disease: a case-control study…

Researchers have identified a new SDCCAG8 gene mutation associated with Bardet-Biedl syndrome (BBS) in an Iranian family. The cases were reported in the study “A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet–Biedl syndrome,” published in the journal International…

Genetic testing early in life can improve the diagnosis of conditions such as Alström syndrome, a rare form of genetic obesity, a case report suggests. Advanced technologies such as next-generation sequencing (NGS), which can examine thousands of genes at once, may help find the most adequate treatment options…

Two genes whose mutations are associated with athletic endurance may help determine the risks of severe obesity in children, a Brazilian study revealed.  Titled “Combination of ACTN3 R577X and ACE I/D polymorphisms as a tool for…

Despite a healthy birth weight, most children with Bardet‐Biedl syndrome (BBS) experience rapid weight gain in the first years of life that is sustained through adolescence, a study reported.  These findings support the need for early recognition of the genetic disorder,…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

The activity of four genes – specifically HOXA5, DMRT2, DMRT3 and CSN1S1 – may regulate body fat distribution in black South African women with obesity, a small study suggests. The findings also showed that a three-month exercise program led to substantial gene activity changes in both gluteal (buttocks) and…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

The U.S. Food and Drug Administration (FDA) has accepted and given priority review to Vanda Pharmaceuticals’ request seeking the approval of Hetlioz (tasimelteon) as a treatment for people with Smith-Magenis syndrome (SMS), a rare genetic disorder characterized by sleeping problems and often associated with obesity. Sold in 20 mg…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…