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Methods and compositions for treating ataxia telangiectasia
Methods and compositions for treating ataxia telangiectasia
Background
Ataxia telangiectasia (A-T) is an incurable autosomal recessive disease that occurs in 1 in 40,000 to 100,000 people worldwide. It is caused by mutations in the Ataxia Telangiectasia Mutated (ATM) gene. A-T is characterized by neurodegeneration in the central nervous system, immune...
Published: 6/26/2025
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Updated: 5/30/2023
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Inventor(s): Timothy Yu, Jinkuk Kim
Keywords(s): CNS, Gene Therapy, Genetic Disorder, Rare Disease
Category(s): Technology Classifications > Invention Type, Technology Classifications > Invention Type > Therapeutics, Technology Classifications > Invention Type > Therapeutics > ASOs, Technology Classifications > Disease Area, Technology Classifications > Disease Area > Rare Diseases, Technology Classifications > Disease Area > Neurology
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Oligonucleotide approach to treat exon skipping diseases
Oligonucleotide approach to treat exon skipping diseases
Background
Almost half of mammalian genomes contain repeat DNA sequences known as transposable elements (TE) or transposons. Many transposons have the ability to mobilize and change location in the genome, yet their role in human health and disease is not well defined. RNA transposons (i.e.,...
Published: 3/20/2026
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Updated: 5/30/2023
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Inventor(s): Timothy Yu, Alice Lee
Keywords(s): CNS, Gene Therapy, Genetic Disorder, Rare Disease
Category(s): Technology Classifications > Invention Type, Technology Classifications > Invention Type > Therapeutics, Technology Classifications > Invention Type > Therapeutics > ASOs, Technology Classifications > Disease Area, Technology Classifications > Disease Area > Rare Diseases, Technology Classifications > Disease Area > Neurology
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Heat Shock Machinery as a Druggable Target in Tuberous Sclerosis Complex
Heat Shock Machinery as a Druggable Target in Tuberous Sclerosis Complex
A treatment for Tuberous Sclerosis as well as other neuropsychiatric disorders with altered cilia
Background
Tuberous Sclerosis Complex (TSC) is a neurogenetic disorder that leads to the formation of tumors in many different organs including the brain, eyes, heart, kidney, and...
Published: 6/26/2025
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Updated: 2/14/2023
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Inventor(s): Alessia Di Nardo, Mustafa Sahin
Keywords(s): Rare Disease, Therapeutic, Therapeutics:Novel Molecules:Small molecules
Category(s): Technology Classifications > Disease Area, Technology Classifications > Disease Area > Rare Diseases, Technology Classifications > Disease Area > Neurology, Technology Classifications > Invention Type, Technology Classifications > Invention Type > Novel Targets
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Curated Gene List for Diagnosis of Sudden Unexpected Death in Pediatrics (SUDP)
Curated Gene List for Diagnosis of Sudden Unexpected Death in Pediatrics (SUDP)
A list of 203 genes has been curated for use in the post-mortem investigation of a child who has died with unexplained causes
Background
Sudden Unexplained Death in Pediatrics (SUDP) is an all-encompassing term for sudden deaths in children that remain unexplained after...
Published: 9/4/2025
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Updated: 1/6/2023
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Inventor(s): Richard Goldstein, Ingrid Holm, Annapurna Poduri, Catherine Brownstein, Gerard Berry
Keywords(s): Dataset, Diagnostics, Rare Disease, SUDP
Category(s): Technology Classifications > Invention Type, Technology Classifications > Invention Type > Diagnostics, Technology Classifications > Disease Area, Technology Classifications > Disease Area > Fetal/Newborn Medicine
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