Rare Diseases - Researchers identify rare genetic disorder |
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The latest rare diseases news from News Medical |
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| | Recognizing 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. | |
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| | A 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. | | | | A breakthrough has been made in understanding a rare genetic skin disease that causes progressively enlarging skin tumours over the scalp, face and body. | | | | Some diseases are like black swans. They occur so rarely that many physicians never encounter them in their clinical practice, complicating efforts to treat them. | | | | The 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. | |
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