University of Massachusetts

The General Hospital Corporation

University System of Maryland

Massachusetts Eye and Ear Infirmary

Diacrin, Inc.

Viacell, Inc.

Hospital Sta Creu I Sant Pau

Robert H Brown, Jr

Christian Mueller

Janice A Dominov

Jonathan Watts

Thomas J Kwiatkowski, Jr

Helene Tran

Michael Moazami

Meng F Ho

Guangping Gao

Patricia K Donahoe

Demetrios Vavvas

Morey Kraus

Seth P Finklestein

David Pepin

Paul S Fishman

Wen-Ghih Tsang

Mien Van Hoang

Jonathan W Francis

Betsy A Hosler

Agatha Zawadzka

Gabriela Toro Cabrera

Chie Matsuda-Asada

Masashi Aoki

Jing Liu

Eduardo Gallardo

Isabel Illa

The disclosure provides, in some aspects, compositions (e.g., isolated nucleic acids and rAAVs) comprising a transgene which encodes at least one inhibitory nucleic acid which decreases expression of a gene encoding a serine palmitoyltransferase protein (e.g., SPTLC1). In some aspects, the disclosure relates to methods of treating hereditary sensory and autonomic neuropathy 1 (HSAN1) by administering the compositions described by the disclosure to a cell or subject.

Modulation of SPTLC1 via recombinant adeno-associated vectors

The present disclosure provides antisense compounds, methods, and compositions for silencing C9ORF72 transcripts. The present disclosure provides antisense compounds, methods, and compositions for the treatment, prevention, or amelioration of diseases, disorders, and conditions associated with C9ORF72 in a subject in need thereof. Also contemplated are antisense compounds and methods for the preparation of a medicament for the treatment, prevention, or amelioration of a disease, disorder, or condition associated with C9ORF72.

Anti-C9ORF72 oligonucleotides and related methods

In some aspects, the disclosure relates to compositions and methods useful for inhibiting SOD1 expression in cells (e.g., cells of a subject). In some embodiments, the disclosure describes isolated nucleic acids engineered to express an inhibitory nucleic acid targeting endogenous SOD1 and an mRNA encoding a hardened SOD1 protein. In some embodiments, compositions and methods described by the disclosure are useful for treating Amyotrophic Lateral Sclerosis (ALS) in a subject.

SOD1 dual expression vectors and uses thereof

The relates, in some aspects, to antisense oligonucleotide compositions and methods for modifying pre-mRNA splicing in a DYSF gene using the same. In some embodiments, the DYSF gene comprises a novel mutation that results in a pseudoexon between exons 50 and 51.

Antisense oligonucleotides to restore dysferlin protein expression in dysferlinopathy patient cells

Aspects of the disclosure relate to methods of altering RNA splicing in a subject. In some embodiments, methods are provided for correcting splicing in a cell that contains a DYSF gene having a mutation that results in defective splicing.

Compositions and methods for modulating dysferlin expression

The invention relates to inhibitory nucleic acids and rAAV-based compositions, methods and kits useful for treating Amyotrophic Lateral Sclerosis.

RAAV-based compositions and methods for treating amyotrophic lateral sclerosis

The invention provides novel FUS/TLS nucleic acids and proteins that comprise one or more genetic markers (for example, single nucleotide polymorphisms) and methods of use thereof including methods relating to the diagnosis of ALS or other related motor neuron disease by virtue of the presence of the mutant FUS/TLS sequence(s).

FUS/TLS-based compounds and methods for diagnosis, treatment and prevention of amyotrophic lateral sclerosis and related motor neuron diseases

The present invention relates to methods to treat a neurodegenerative disease or disorder, e.g., a motor neuron disease in a subject, whereby the subject is administered a recombinant human Mullerian Inhibiting Substance (MIS) protein as disclosed herein, wherein the recombinant human MIS protein comprises a modified Kex cleavage site for increased cleavage. The recombinant human MIS protein can be produced from a pre-proprotein comprising a non-MIS leader sequence or a functional fragment thereof in place of the MIS leader sequence.

Viral vectors for expressing a modified mullerian inhibiting substance (MIS) protein

Growing community of inventors

Needham, MA, United States of America

Robert H Brown, Jr