genetic diseases tagged posts

Validating genetic diagnosis of neurological and neuromuscular diseases using faster, smaller, cheaper sequencing technologies. A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

‘We correctly diagnosed all patients with conditions that were already known, including Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease and more,’ says Dr Ira Deveson, Head of Genomics Technologies at the Garvan Institute and senior author of the study.

The diseases covered ...

Highlights • Inducible CRISPRi iPSCs provide a valuable resource for rapid gene knockdown • CRISPRi knockdown is efficient, tunable, and reversible in iPSCs • CRISPRi knockdown is highly specific • CRISPRi enables disease modeling in iPSC-derived cardiomyocytes

CRISPR interference system inhibits rather than cuts the genome to suppress genes in stem cells, improving efficiency and precision of CRISPR-Cas9. Combining the 2 most powerful biological tools of the 21st century, scientists at the Gladstone Institutes have modified how the genome of induced pluripotent stem cells (iPSCs) is read for the first time using a variation of the CRISPR-Cas9 system. The development offers a major technological advance in creating cell models of genetic diseases.

The researchers used a modified ve...