Bardet Biedl Syndrome News and Research

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Bardet-Biedl syndrome (BBS) is a genetically heterogeneous human obesity syndrome associated with ciliary dysfunction.

Childhood and adolescent obesity: time to act

In a recent review published in the journal Frontiers in Pediatrics, researchers at the Medical College of Wisconsin presented an overview of the pathophysiological mechanisms, health implications, and management options for obesity among children and adults.

21 Mar 2023

Neuronal cilia are important for dopamine receptor 1 signaling, study shows

A historically overlooked rod-like projection present on nearly every cell type in the human body may finally be getting its scientific due: A new study has found that these appendages, called cilia, on neurons in the brain have a key role in ensuring a specific dopamine receptor's signals are properly received.

9 Aug 2022

Roundworms shed light on vision loss in a rare human genetic disorder

In this interview, News-Medical speaks to Xinxing Zhang, a postdoctoral research fellow at the University of Michigan, about his research investigating vision loss in Bardet-Biedl syndrome.

4 Jul 2022

Scientists discover a new role for protein complex at the center of Bardet-Biedl syndrome

Scientists have identified a new role for a protein complex at the center of a human genetic disorder called Bardet-Biedl syndrome, or BBS, for which there is currently no cure.

31 May 2022

Study reveals molecular machinery that regulates membrane association of Arf proteins

The small GTPases of the ADP-ribosylation factor (Arf) family are key initiators of various physiological processes including secretion, endocytosis, phagocytosis, and signal transduction. Arf family proteins function to mediate the recruitment of cytosolic effectors to specific subcellular compartments.

7 Jan 2021

Findings about primary cilia may be relevant for transplantation therapies in diabetes

A new study from Karolinska Institutet and the Helmholtz Diabetes Research Center shows that primary cilia, hair-like protrusions on endothelial cells inside vessels, play an important role in the blood supply and delivery of glucose to the insulin-producing beta cells in the pancreatic islets.

5 Dec 2020

Study provides a new depth of resolution to understand single gene disorders

Traditionally, geneticists divide disorders into "simple," where a single gene mutation causes disease, or complex, where mutations in many genes contribute modest amounts. A new study suggests that the truth is somewhere in between.

12 Oct 2020

Ciliary proteins play vital role in cardiovascular functions and genetic diseases

Research from Chapman University provides new insight into the characteristics of crucial proteins within the ciliary membrane that play vital roles in human genetic diseases and cardiovascular functions.

20 Aug 2020

Research shows how cilia and exocyst contribute to extracellular vesicle production

Although the cilium has been known to scientists for more than 100 years, it is only recently that it has been acknowledged to play important roles in physiology.

25 Nov 2019

New imaging methods provide unprecedented close-up view of cilia linked to blindness

A new study published today by researchers from Baylor College of Medicine and UT Health's McGovern Medical School in the Proceedings of the National Academy of Sciences reveals an unprecedented close-up view of cilia linked to blindness.

5 Nov 2019

Discovery in monkeys could pave way for treatment of Bardet-Biedl Syndrome

A genetic mutation that leads to a rare, but devastating blindness-causing syndrome has been discovered in monkeys for the first time. The finding offers a promising way to develop gene and cell therapies that could treat the condition in people.

25 Oct 2019

New anti-obesity drug trial set to launch at Alberta Diabetes Institute

The Alberta Diabetes Institute will be at the center of a new clinical trial for an anti-obesity drug targeting people with rare genetic conditions that contribute to their obesity.

10 Jul 2019

Researchers identify mechanism that regulates signaling events leading to cancer metastasis

Understanding how cancer cells are able to metastasize -- migrate from the primary tumor to distant sites in the body -- and developing therapies to inhibit this process are the focus of many laboratories around the country.

18 Dec 2017

Molecular biologists identify enzyme that activates and ‘supercharges’ cellular machinery

St. Jude Children's Research Hospital molecular biologists have identified an enzyme that activates and "supercharges" cellular machinery that controls how cells become specialized cells in the body.

7 Jun 2017

Animal study shows link between oxygen-sensing neurons and fat-burning circuit

A new study in animal models, led by scientists at The Scripps Research Institute (TSRI), is the first to show that oxygen sensing in the brain has a role in metabolism and sensing an organism's internal state.

12 Feb 2016

GOSH to improve rare disease diagnosis with adoption of Congenica’s Sapientia technology

Ian was ‘a clumsy child’. He kept bumping into objects and couldn’t see well in the dark. He endured 15 years of tests and misdiagnoses during a lengthy, and sometimes traumatic, diagnostic odyssey.

26 Aug 2015

RPB grants $500,000 to accelerate treatments for Retinitis Pigmentosa

Research to Prevent Blindness (RPB), the leading eye research foundation, is providing $500,000 to accelerate the development of treatments for Retinitis Pigmentosa (RP) -- a family of retinal diseases that progressively create extreme tunnel vision, loss of night vision and leave affected patients legally blind by the age of 40.

5 Jun 2014

Researchers create 3D map of rod sensory cilium architecture affected by mutation

Using a new technique called cryo-electron tomography, two research teams at Baylor College of Medicine (www.bcm.edu) have created a three-dimensional map that gives a better understanding of how the architecture of the rod sensory cilium (part of one type of photoreceptor in the eye) is changed by genetic mutation and how that affects its ability to transport proteins as part of the light-sensing process.

23 Nov 2012

Two genetic factors strongly associated with non-syndromic sagittal craniosynostosis

An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common form of non-syndromic craniosynostosis ― premature closure of the bony plates of the skull.

18 Nov 2012

Scientists restore sense of smell in mice through gene therapy

Scientists have restored the sense of smell in mice through gene therapy for the first time -- a hopeful sign for people who can't smell anything from birth or lose it due to disease.

3 Sep 2012