Wilson Disease is a genetic condition, which results from excessive copper in the body. Wilson Disease is caused by mutations in the ATP7B gene and more than 300 disease-causing mutations have been identified. The condition is inherited in an autosomal recessive pattern, which means individuals with Wilson Disease have disease-causing mutations in both copies of their ATP7B gene. There are three main features of Wilson Disease: liver disease, neurological decline, and neuropsychiatric symptoms. Many patients have deposits of copper in the eye, called Kayser-Fleischer rings.
For additional information please visit the National Organization for Rare Disorders’ page on Wilson Disease: https://rarediseases.org/rare-diseases/wilson-disease/
Currently, there are no approved treatments available that restore ATP7B protein levels or function and address neurological symptoms. Deep Genomics is working to identify therapies that can potentially restore ATP7B protein levels and function and advance them into the clinic. These therapies may address 40% or more of patients with Wilson Disease and are aimed at potentially improving neurological symptoms as well as liver function.
Helping prepare the Wilson Disease community for the development of genetic medicines
Deep Genomics has partnered with the Wilson Disease Association and with physicians, around the world, to help ensure that we consider the needs of Wilson Disease patients. Two examples of that are below:
Free genetic testing
To help patients confirm their diagnoses and understand their disease-causing mutations, Deep Genomics has partnered with a well respected clinical lab, PreventionGenetics, to offer free genetic testing for Wilson Disease patients. If you are interested in pursuing testing, you can direct your doctor to visit the PreventionGenetics, website for additional information.
Sponsored testing patient materials:
Gout is a disorder caused by excessive urate production and/or insufficient urate elimination in the urine, which result in urate crystal deposition in the joints and inflammatory arthritis. In North America, gout is present in about 3% of the population. Arthritis symptoms can be treated by anti-inflammatory drugs, and urate levels can be modulated using urate synthesis inhibitors and enhancers of urate excretion. However, about 150,000 patients have treatment-refractory gout, which means that available pharmacological treatment has failed to normalize their urate levels and they have persistent joint pain. Deep Genomics is working to identify therapies that can potentially more effectively suppress urate synthesis.
Niemann-Pick Disease Type C
Niemann-Pick disease type C (NPC) is a severe and often fatal neurodegenerative disorder characterized by ataxia (lack of voluntary coordination of muscle movements), cognitive impairment and dementia. Its prevalence is reported as 1.1 / 100,000 in individuals of European descent. NPC is caused by recessive pathogenic variants in the gene ‘NPC intracellular cholesterol transporter 1’ (NPC1). Loss of NPC1 function results in cholesterol accumulation in neurons, leading to their dysfunction and death. Based on age of onset and severity, five NPC forms have been recognized: fatal systemic perinatal, early infantile, late infantile, juvenile and adolescent / adult. For additional information please visit the National Organization for Rare Disorders’ page on Niemann-Pick disease type C: https://rarediseases.org/rare-diseases/niemann-pick-disease-type-c /
Currently, there are no approved treatments available that restore NPC1 protein levels or function. Deep Genomics is working to identify therapies that can potentially restore NPC1 protein levels and function and advance them into the clinic.
Frontotemporal Dementia Caused by Granulin Precursor
Frontotemporal dementia (FTD) is a fatal neurodegenerative disorder characterized by rapidly progressing deficits in executive function and language, accompanied by behavioral and personality changes. It can be caused by dominant pathogenic variants in the gene Granulin Precursor (GRN), with an estimated prevalence of 7.5-9 / 1 M in individuals of European descent. Partial loss of GRN function leads to neuron degeneration and death, primarily impacting the frontal and temporal lobes of the cerebral cortex. For additional information please visit the National Organization for Rare Disorders’ page on Frontotemporal dementia: https://rarediseases.org/rare-diseases/frontotemporal-degeneration /
Currently, there are no approved treatments available that restore GRN protein levels or function. Deep Genomics is working to identify therapies that can potentially restore GRN protein levels and function and advance them into the clinic.