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A new study reports that genetic changes in how the hunger-inhibiting hormone leptin is regulated could predispose some people to obesity. The study, “Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity,” was published in the journal Nature Medicine. Leptin is…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term impact…

A large-scale genetic screening identified 24 new genetic variants implicated in the distribution of body fat. Conducted by researchers from the Genetic Investigation of Anthropometric Traits consortium, the study adds new information on potential genes and mechanisms involved in the regulation and distribution of body fat. It may also…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

Females have greater susceptibility than males to increased body fat content under a high-fat, high-sugar diet, a study in mice shows. This gender-specific effect is mediated by increased activation of mitochondrial pathways in adipose tissue, researchers found. The results were described in a study, “…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Studying mutations in the protein-coding parts of the DNA through whole-exome sequencing helps improve the clinical understanding of rare diseases such as Alström syndrome (AS), according to a case study. The study, “Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With…

Kidney disease may be a primary manifestation of Alström syndrome. However, the development of renal problems may be nourished by the co-existence of other common disorders such diabetes, hypertension, and being insulin resistant, a single-center study suggests. The study, “Alström…