Joubert Syndrome News and Research

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Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.

Study finds link between hippocampal defects and intellectual disability in children with Joubert Syndrome

An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus.

10 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

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

Scientists identify 'modifier gene' that determines severity of inherited kidney disease

Scientists have developed a new way to understand complex genetic diseases and have identified a gene that modifies the severity of inherited kidney disease, paving the way for personalised treatments.

9 Jan 2020

Research finds key reason why brain connectivity goes awry in rare neurodevelopmental conditions

Axons are the long thread-like extensions of neurons that send electrical signals to other brain cells. Thanks to axonal connectivity, our brains and bodies can do all necessary tasks.

16 Dec 2019

New mouse model for Joubert Syndrome developed

A new mouse model for Joubert Syndrome has been developed by University of Bath scientists, who hope it will accelerate research to understand how the disease develops as well as help develop and evaluate therapeutic approaches.

3 Apr 2019

Gene editing could be used to halt kidney disease in patients with Joubert syndrome

For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalized treatment in the future.

16 Nov 2018

Scientists get unprecedented view of brain development through high-resolution genomic map

Researchers at St. Jude Children's Research Hospital have created a massive database of the changes in gene activity of individual cells in the cerebellum during embryonic development and immediately after birth.

14 Sep 2018

Scientists find fast way to manipulate cell's cilia

Scientists at Johns Hopkins Medicine and the National Tsing Hua University in Taiwan say they have found a fast way to manipulate a cell's cilia, the tiny, fingerlike protrusions that "feel" and sense their microscopic environment.

16 May 2018

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

Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

Today Claritas Genomics and Genetic Alliance announced a partnership to help patients and families find and participate in relevant research opportunities that will advance understanding of individual genetic disorders and development of new therapies.

24 Jun 2015

TSRI scientists map out protein structure involved in cellular function, nervous system development

Scientists from The Scripps Research Institute, working closely with researchers at the National Institutes of Health, have mapped out the structure of an important protein involved in cellular function and nervous system development.

12 May 2015

Researchers examine why tubulin acetyltransferase is important for brain health

In a new study, scientists at the National Institutes of Health took a molecular-level journey into microtubules, the hollow cylinders inside brain cells that act as skeletons and internal highways.

16 Jun 2014

Researchers pinpoint role of Arl13b gene in guiding placement of neurons during brain development

Researchers have pinpointed the role of a gene known as Arl13b in guiding the formation and proper placement of neurons in the early stages of brain development. Mutations in the gene could help explain brain malformations often seen in neurodevelopmental disorders.

3 Jul 2013

Study reveals how interneurons navigate during cerebral cortex development

As the brain develops, each neuron must find its way to precisely the right spot to weave the intricate network of links the brain needs to function. Like the wiring in a computer, a few misplaced connections can throw off functioning for an entire segment of the brain.

14 Nov 2012

Exome sequencing may also improve diagnoses and guide individual patient care

In the June 13 issue of Science Translational Medicine, an international team led by researchers from the University of California, San Diego School of Medicine reports that the new technology of exome sequencing is not only a promising method for identifying disease-causing genes, but may also improve diagnoses and guide individual patient care.

14 Jun 2012

Study: C5ORF42 gene contributes to Joubert Syndrome

History, science and discovery come together to help family members affected by this syndrome make informed family planning choices. C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals.

11 May 2012

Researchers discover how genetic mutations cause rare human diseases

Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other disorders.

11 Jul 2011

CAMH scientist identifies gene responsible for Joubert syndrome

A new study involving Canada's Centre for Addiction and Mental Health has found a gene connected with a type of intellectual disability called Joubert syndrome.

13 May 2011

Researchers identify gene responsible for Meckel-Gruber and Joubert syndromes

An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities.

31 May 2010