Translation malfunctions in Repeat Associated Diseases
Repeat associated diseases are a group of genetic diseases, also known as Trinucleotide expansion diseases. Some of the most challenging diseases belong to this group such as Huntington’s disease, Amyotrophic Lateral Sclerosis (ALS), Fragile X tremor ataxia and Myotonic dystrophy type 1/2.
Recent scientific discoveries point to malfunctions of the translation machinery as a common, underlying cause of many repeat associated diseases. As such, translation control is a novel intervention point and a new strategy against these devastating and yet untreatable diseases. Our unique approach enables us to visualize translation malfunctions and to discover molecules that selectively correct them, resulting in novel treatments.
We are in the process of running discovery programs around several diseases in this area.
|Fragile X tremor ataxia||non-coding||FMR1|
|Spinobulbar muscular atrophy||coding||AR|
|Spinocerebellar Ataxias (SCA types 1, 2, 3, 6, 7, 17)||coding||ATXN-1, 2, 3, 7, CACNA1A, TBP|
|Dentatorubro-Pallidoluysian Atrophy (DRPLA)||coding||ATN1|
|Myotonic dystrophy type 1||coding||DMPK|
|Myotonic dystrophy type 2||coding||CNBP|
|Spinocerebellar Ataxia, type 10||coding||Ataxin10|