We have initiated a translational and collaborative National Science Foundation PFI project involving industry (Beckman Coulter, Inc.), a non-profit organization (National Organization of Rare Disorders), and academia (Harvey Mudd College and KGI) to educate translational scientists and to discover and commercialize new disease-specific biomarkers.
Our initial effort is focused on Inclusion Body Myopathies (IBM). These rare diseases are a diverse group of muscle-wasting disorders that share similar histopathology with sporadic Inclusion Body Myositis and senile plaques found in Alzheimer’s brain disease. The autosomal recessive form, IBM2, is the most common and is due to a mutation in the rate limiting enzyme for sialic acid synthesis. It usually affects young adults, between the age of 20-35 years, and often leads to severe disability and confinement to a wheelchair within 10-15 years. IBM2 is a recessive genetic disorder, which means it can happen to anyone, even without family history of the disease. Most of the patients have healthy parents who were carriers of the disease without knowing – the patients and their families had never heard of IBM2 prior to their devastating diagnosis.
The Center works with the HIBM Research Group (HRG), a California non-profit public benefit corporation founded by Dr. Daniel Darvish engaging in medical research on HIBM. Over the past few years, HRG has established a depository center for maintaining and distributing reagents and resources necessary for research on IBM2. As with many rare disorders, there is a significant need to develop biomarkers for IBM2 that can be useful in clinical and molecular evaluation of the disease. Such biomarkers will allow us to monitor progression of the disease and determine the effectiveness of therapy early in clinical trials, which may translate to significant cost and time savings. KGI and HRG have begun a team-oriented effort to develop and validate IBM2 specific biomarkers.