Huntington’s Disease (HD)
Huntington’s disease (HD) is a fatal genetic brain disease caused by a CAG repeat expansion in the Huntingtin (HTT) gene. The disease progresses slowly and leads to complete disability, being characterized by motor, cognitive and psychiatric symptoms. Current therapeutics in clinical development target the expression of the HTT gene.
At Rumi, we have identified small molecules that can reverse the cellular consequences of the mutation in the human nervous system using our Neuroloid platform. Our strategy involves the modulation of an epigenetic target which can significantly ameliorate pathology and core features of the disease.
Neurodevelopmental Disorders
Rumi’s platform is ideally suited to target genetic disorders affecting brain development and function. Our small molecule autism spectrum disorder (ASD) pipeline targets multiple neurodevelopmental monogenic disorders. By exploring diverse genetic versions of ASD using our Neuroloid and Cerebroid platforms, we are identifying therapeutics with broad potential for these severely disabling disorders.
Helsmoortel-Van Der Aa syndrome, also known as ADNP syndrome, is a rare neurodevelopmental disorder caused by mutations in the Activity-Dependent Neuroprotective Protein (ADNP) gene. Symptoms include developmental, motor, speech and intellectual delay, and features of ASD.
Phelan-McDermid syndrome is a genetic disorder caused by a deletion or mutation of the SHANK3 gene. It is characterized by a range of developmental and neurological issues, most notably autism spectrum disorder (ASD).
We have deployed our nephroid platform to model genetic diseases affecting kidney development and function, and for which there are no effective treatments.
Alport syndrome is a genetic condition caused by mutations in the genes responsible for producing type IV collagen, a protein essential for the structure and function of the kidney’s filtering system, as well as the inner ear and eye structures. Kidney failure can occur in individuals with Alport syndrome, necessitating dialysis or a kidney transplant.
Polycystic kidney disease (PKD) is a genetic disorder that causes fluid-filled cysts to grow in the kidneys potentially leading to kidney failure. Autosomal dominant PKD is caused by mutations in two genes, PKD1 and PKD2, leading to their loss of function.
