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Archive - Nov 5, 2018

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Patient-Customized Anti-Sense Therapy Possibly Successful for Young Girl with MFSD8/CLN7 Batten Disease, an Ultra-Rare and Generally Fatal Genetic Disease

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.

Conference on ARPKD/CHF Features Eminent Speakers from Children’s Hospital of Philadelphia (CHOP) and NIH

The ARPKD/CHF Alliance (autosomal recessive polycystic kidney disease/congenital hepatic fibrosis) held a major conference "Empowering the Patient" on Saturday, November 3, at world-renowned Children's Hospital of Philadelphia (CHOP). The all-day conference, which was attended by ARPKD/CHF families from around the country, featured lectures by world-class kidney and liver disease experts from CHOP, an update on the clinical drug trial of tesevatinib (https://en.wikipedia.org/wiki/Tesevatinib), a moving personal story from a mother of a child with ARPKD, and closed with the keynote address by Theo Heller, MD, Chief of the Translational Hepatology Section, Liver Disease Branch, NIDDK, NIH, who provided an update on a 10-year NIH research project on ARPKD/CHF. Dr. Heller noted that this research project would never have taken place if not for the herculean lobbying efforts of Colleen Zak, MSN, CRNP, President & Founder of the ARPKD/CHF Alliance. David Piccoli, MD, Chief, Division of Gastroenterology, Hepatology and Nutrition, CHOP, and Susan Furth, MD, PhD, Chief, Divison of Nephrology, CHOP, introduce the day's meeting.