Project Portfolio

Project Portfolio

Novel Blood Biomarkers for Early detection of Alzheimer Disease

Genetic and epigenetic mitochondrial panel to predict the risk of progression to Alzheimer Disease (AD) in diagnosed mild cognitive impairment patients (MCI).

Novel diagnostic tool using blood samples of MCI.

Problema per ser solucionat 
Dementia and Alzheimer Disease are increasing worldwide the last years. Detection methods of these diseases are expensive and complex. Thus, there is a need to find new diagnosis tests to allow early diagnose and treat symptoms more efficiently and to reduce further costs associated.
Aplicacions 

The goal would be to develop cheap, fast and nonpainful methods to be used in this first stage of detection in primary care, hospitals and private medical assurances. Focused as middle age prevention plan, the early susceptibility detection would allow fast intervention to diminish the progression of the disease, improve patient’s quality of life and minimize associated direct and indirect cost for health systems and families. The technology should be easily introduced in mature as well as in emerging pharmaceutical markets.

Estat de tecnologia 
The group has robust data on the target validation obtained in the lab. It also has non-regulatory preclinical studies and first clinical proof-ofconcept of target. IP status: patent ongoing in national phases
Oportunitat de mercat 
AD is still a significant unmet medical need. Only in the US accounts for up to 5M people diagnosed and estimated 25 M people worldwide, even higher if dementia is considered instead of AD. Although AD is considered a chronic disease, it is also cause of direct death being the 6th cause in US. Indeed, while deaths from other major diseases decreased, deaths from AD increased 68% between 2000 and 2010. About up to 500.000 new cases are diagnosed each year only in the US, but close to 900.000 remain silent. Although AD and dementia are usually considered ‘western developed countries’ diseases, already 62% of people with dementia live in developing countries raising to 71% by 2050. The higher incidence is taking place in China and India.
Context 
Alzheimer Disease (AD) is considered a slowly progressive brain disease that begins about 20 years before clinical symptoms emerge. Moreover, 15% of diagnosed mild cognitive impairment (MCI) patients progress to AD per year. Nonetheless, the main line of detection of dementia symptoms is performed in primary care by nonpharmacological approaches due to the cost and complexity of current medical analysis that requires to be performed in hospital environment. The early susceptibility detection would allow fast intervention to diminish the progression of the disease, improve patient’s quality of life and minimize associated direct and indirect cost for health systems and families.
Tecnologia 
The technology aims to establish a direct link between genetic characterization and mitochondrial functionality. Therefore, the identification of a genetic and epigenetic mitochondrial panel to predict the risk of progression to AD in diagnosed MCI patients. Moreover to develop a novel diagnostic tool using blood samples of MCI by means of analyzing the effect of specific mitochondrial polymorphisms already described in AD in combination with new polymorphism detected in the mitochondrial DNA (mtDNA) control region and the effect of the mtDNA methylation pattern. On one hand, several polymorphisms in nuclear genes for mitochondrial proteins and some mitochondrial haplogroups have been described as conferring risk of AD. Heteroplasmy mutations in the mtDNA control region or D-Loop have been correlated with mitochondrial dysfunctionallity and an increase in β-amyloid production. On the other hand, cerebral mitochondrial impairment has been also reported at the systemic level, giving support to the idea that somatic mtDNA modifications in blood precede the development of dementia and β-amyloid deposits.
Technology Readiness Level 
TRL 5
Què busquem? 
Acord de llicència
Codesenvolupament
Inversió
Inventors 
Barrachina M, Ferrer I (Institute of Neuropathology, HUB, IDIBELL)
Priority Date 
28/03/2014

Novel Blood Biomarkers for Early detection of Alzheimer Disease

Technology Readiness Level 
Què busquem? 
Acord de llicència
Codesenvolupament
Inversió
Priority Date 
28/03/2014
Punts destacats 
Genetic and epigenetic mitochondrial panel to predict the risk of progression to Alzheimer Disease (AD) in diagnosed mild cognitive impairment patients (MCI).Novel diagnostic tool using blood samples of MCI.
Problema per ser solucionat 
Dementia and Alzheimer Disease are increasing worldwide the last years. Detection methods of these diseases are expensive and complex. Thus, there is a need to find new diagnosis tests to allow early diagnose and treat symptoms more efficiently and to reduce further costs associated.
Aplicacions 

The goal would be to develop cheap, fast and nonpainful methods to be used in this first stage of detection in primary care, hospitals and private medical assurances. Focused as middle age prevention plan, the early susceptibility detection would allow fast intervention to diminish the progression of the disease, improve patient’s quality of life and minimize associated direct and indirect cost for health systems and families. The technology should be easily introduced in mature as well as in emerging pharmaceutical markets.

Estat de tecnologia 
The group has robust data on the target validation obtained in the lab. It also has non-regulatory preclinical studies and first clinical proof-ofconcept of target. IP status: patent ongoing in national phases
Oportunitat de mercat 
AD is still a significant unmet medical need. Only in the US accounts for up to 5M people diagnosed and estimated 25 M people worldwide, even higher if dementia is considered instead of AD. Although AD is considered a chronic disease, it is also cause of direct death being the 6th cause in US. Indeed, while deaths from other major diseases decreased, deaths from AD increased 68% between 2000 and 2010. About up to 500.000 new cases are diagnosed each year only in the US, but close to 900.000 remain silent. Although AD and dementia are usually considered ‘western developed countries’ diseases, already 62% of people with dementia live in developing countries raising to 71% by 2050. The higher incidence is taking place in China and India.
Context 
Alzheimer Disease (AD) is considered a slowly progressive brain disease that begins about 20 years before clinical symptoms emerge. Moreover, 15% of diagnosed mild cognitive impairment (MCI) patients progress to AD per year. Nonetheless, the main line of detection of dementia symptoms is performed in primary care by nonpharmacological approaches due to the cost and complexity of current medical analysis that requires to be performed in hospital environment. The early susceptibility detection would allow fast intervention to diminish the progression of the disease, improve patient’s quality of life and minimize associated direct and indirect cost for health systems and families.
Tecnologia 
The technology aims to establish a direct link between genetic characterization and mitochondrial functionality. Therefore, the identification of a genetic and epigenetic mitochondrial panel to predict the risk of progression to AD in diagnosed MCI patients. Moreover to develop a novel diagnostic tool using blood samples of MCI by means of analyzing the effect of specific mitochondrial polymorphisms already described in AD in combination with new polymorphism detected in the mitochondrial DNA (mtDNA) control region and the effect of the mtDNA methylation pattern. On one hand, several polymorphisms in nuclear genes for mitochondrial proteins and some mitochondrial haplogroups have been described as conferring risk of AD. Heteroplasmy mutations in the mtDNA control region or D-Loop have been correlated with mitochondrial dysfunctionallity and an increase in β-amyloid production. On the other hand, cerebral mitochondrial impairment has been also reported at the systemic level, giving support to the idea that somatic mtDNA modifications in blood precede the development of dementia and β-amyloid deposits.