Rare Diseases - Researchers identify rare genetic disorder
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  Rare Diseases  
  The latest rare diseases news from News Medical  
 Recognizing CDKL5 Deficiency DisorderRecognizing CDKL5 Deficiency Disorder
 
CDKL5 Deficiency Disorder (CDD) is a rare disorder which is caused by mutations in the CDKL5 gene. Nearly all CDKL5 mutations leading to the disorder arise de novo and lead to loss of function of the CDKL5 gene.
 
   New C. elegans model will accelerate study of a rare diseaseNew C. elegans model will accelerate study of a rare disease
 
The model will permit to accelerate and reduce the price of the research, which is studying the mechanisms and the possible pharmacological targets for the neuronal alterations of this disease.
 
   Researchers identify rare genetic disorderResearchers identify rare genetic disorder
 
A team of South Australian researchers has cracked a rare gene variant for a disorder that sees a normal healthy child start to lose muscle tone and motor skills, ultimately losing the capacity to walk and use language.
 
 Study sheds light on mechanisms that underlie a rare genetic condition
 
Study sheds light on mechanisms that underlie a rare genetic conditionA team of researchers at CHU Sainte-Justine and Université de Montréal has shed light on the mechanisms that underlie a rare genetic condition by creating the first cellular model of the disease.
 
 
 Breakthrough study suggests ways to develop treatments for rare genetic skin disease
 
Breakthrough study suggests ways to develop treatments for rare genetic skin diseaseA breakthrough has been made in understanding a rare genetic skin disease that causes progressively enlarging skin tumours over the scalp, face and body.
 
 
 Study underscores the need for more precise rare disease definitions
 
Study underscores the need for more precise rare disease definitionsSome diseases are like black swans. They occur so rarely that many physicians never encounter them in their clinical practice, complicating efforts to treat them.
 
 
 C-Path awarded FDA grant to establish Rare Disease Clinical Outcome Assessment Consortium
 
C-Path awarded FDA grant to establish Rare Disease Clinical Outcome Assessment ConsortiumThe U.S. Food and Drug Administration's Center for Drug Evaluation and Research has funded a cooperative agreement to establish a Rare Disease Clinical Outcome Assessment Consortium.