On October19 at that 2018 ASHG Annual Meeting in San Diego, scientists from Boston Children’s Hospital & collaborating institutions reported apparently successful treatment of a six-year-old girl’s (Mila) Batten disease with an antisense oligonucleotide customized to the girl’s specific disease-causing alteration in the intron of the MFSD8/CLN7 gene, a key lysosomal gene. The alteration was due to the insertion of a retrotranspon into the intron. The text of ASHG presentation abstract is given below. Links to articles on work are provided at the end. The ASHG abstract was titled “Patient-Customized Oligonucleotide Therapy for an Ultra-Rare Genetic Disease” And was #3570 in the ASHG’s meeting program. The presentation was given in the ASHG’s Late-Breaking Abstract Session. Here is the text of the presentation abstract: “Next generation sequencing has revolutionized the diagnosis of rare genetic diseases. However, many patients still suffer from a lack of therapeutic options for most of these conditions, which in aggregate impact tens of millions of individuals globally. Here, we demonstrate a dramatically new pathway for the treatment of even ultra-rare genetic diseases. A six year old girl (Mila) developed progressive blindness, epilepsy, and neurocognitive regression. Whole-genome sequencing and RNA-seq revealed a maternally inherited retrotransposon inserted into an intron of MFSD8/CLN7, a key lysosomal gene. The insertion was found to cause exon trapping, leading to gene inactivation. This mutation, in combination with a paternal missense mutation in the same gene, caused Batten Disease, a rare, recessive disorder of neuronal lysosomal storage. No treatments exist for CLN7 Batten disease. Unchecked, it is rapidly progressive and ultimately fatal.
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