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People with Bardet-Biedl syndrome (BBS) have nearly two times as many rare secondary mutations in BBS-associated genes than their healthy peers, and in a non-random pattern, according to a recent study. The findings, along with the presence of interactions between these mutations, suggest that additional genetic variation may contribute…

The case of two brothers with differing symptoms but the same genetic mutation underlying Bardet-Biedl syndrome (BBS) — a rare form of genetic obesity — supports the hypothesis that genetic, hormonal, and environmental factors all interact in this disorder. The study, “Clinical characteristics and ultra-widefield fundus…

A study has described a rare case of a girl with Bardet-Biedl syndrome (BBS) caused by a newly identified mutation, who also developed a second rare disorder — Legg-Calvé-Perthes disease (LCPD) — that affects the hips. This is only the second documented case of a patient diagnosed with…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…

Certain variants in the lactoferrin (LTF) and lactoferrin receptor-related genes may increase the risk for metabolic syndrome in obese people, a study suggests. The study, “Metabolic Health in Obese Subjects—Is There a Link to Lactoferrin and Lactoferrin Receptor-Related Gene Polymorphisms?,” was published in the journal Nutrients. Obesity…

It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest…

Brain cells with gene activity changes related to obesity were identified in a new study, providing a starting point for future research into how different cell types affect this complex trait. The study, “Genetic mapping of etiologic brain cell types for obesity,” was published in the journal…

Three genes with epigenetic changes — those related to gene activity — are associated with both obesity and mood disorders, such as depression, a review study reported. Findings showed that these genes are linked to inflammatory processes.  The…

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…