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Title : Rare Diseases - Mar 12, 2018 Edition
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Rare Diseases - Mar 12, 2018 Edition

Health News and Information - News Medical

March 12, 2018     Rare Diseases     The latest rare diseases news from News Medical

Novel screening tool aids search for curative kidney treatment   Researchers have developed a screening tool for identifying compounds that restore functionality of the protein that is dysfunctional in Alport syndrome.

Report highlights needs, experiences of people with rare autoimmune rheumatic diseases   People living with rare autoimmune rheumatic diseases are facing major obstacles to diagnosis, treatment and lifestyle according to a major new study published today [Wednesday 28th February].         CRISPR-like gene editing could be potential way to treat patients with harmful blood lipid levels   Using a variation of CRISPR gene editing may be a potential strategy for mimicking the protective effects of a genetic mutation linked to lower cholesterol levels and heart disease risks, according to new mouse research from the Perelman School of Medicine at the University of Pennsylvania published this week in Circulation.

Leading consultants from the North East putting rare diseases expertise on world stage   This Rare Disease Day (28 February), the Academic Health Science Network, is shining a spotlight on the region’s healthcare pioneers chosen to lead three major European rare disease networks.       Aarskog Syndrome Symptoms   A genetic disorder caused by the gene mutation FGD1 (faciogenital dysplasia) results in Aarskog syndrome. Males are more prone to the disease compared with females. Male patients exhibit many distinctive signs and symptoms such as physical and genital deformities.       Researchers describe important step toward gene therapy for patients with Sandhoff disease   Babies with the rare, deadly genetic disorder Sandhoff disease begin to miss developmental milestones just months after birth. Lacking muscle tone, they never learn to sit up, develop heads too large to lift and eventually suffer uncontrollable seizures. There is no cure.       What is Patau Syndrome?   Patau’s syndrome, also referred to as Trisomy 13, is a chromosome-based, rare genetic disorder in which the some or all of a patients cell contain an extra copy of chromosome 13. Normally a baby should have two copies of the chromosome, and this additional chromosome causes abnormal development of the fetus, often resulting in a miscarriage or stillbirth.

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