SBIR-STTR Award

Beta-thalassemia is the most common inherited blood disorder. Advances in recombinant DNA and genetic technologies have made Beta-thalassemia the primary genetic disease of multiple mutations. Molecular basis is being characterized for more than 90% of all the defective genes and is leading to new methods for Beta-thalassemia diagnosis. However, current molecular technologies are only available in specialized research laboratories, and very few patients can actually receive benefits form them. These techniques cannot be utilized and applied to clinical diagnosis, carrier detection and genetic counselling. We will conduct research and study the molecular technologies of direct analysis of Beta-globin gene lesions and quantitation of erythroid cell mRNA, combined with micro-DNA sampling (MDS) from dried blood method to develop simple and rapid molecular diagnostic kits which will provide a new method for the diagnosis of Beta-thalassemia syndrome, for the clinical laboratories. Our new diagnostic kits will play an important role in providing clear understanding of the carrier rates of the mutant Beta-globin alleles. These understandings will improve the current various programs in the U. S. and other countries to monitor the birth rate of affected children.Awardee's statement of the potential commercial applications of the research: Our new diagnostic kits utilizes the most recent advanced molecular technologies and combines the techniques of direct analysis of defective genes to detect Beta-thalassemia. These kits are accurate, simple to use and cost effective. Its marketing potential will be very food in countries where Beta-thalassemia is prevalent.National Heart, Lung and Blood Institute (NHLBI)

Beta-thalassemia is the most common inherited blood disorder in the world. The advances in molecular genetic technology have made beta-thalassemia the first genetic disease that, the molecular basis being characterized for more than 90-of all defective genes, has provided new methods for its diagnosis. Unfortunately, current molecular techniques are available only in specialized research labs, and only a few patients actually benefited from these techniques. Therefore, they do not meet the demands for clinical diagnosis and requirements of carrier detection and genetic counseling. Phase II research seeks to exploit the molecular techniques of direct analysis of beta-globin gene lesions and erythroid cell mRNA, coupled with micro-DNA (or RNA) sampling from dried blood to develop a simple, rapid and reliable diagnostic kits which will provide a new resource for the molecular diagnosis of beta-thalassemia in physicians' offices and clinical laboratories.Through successful Phase I studies, Drive. Huang and her associates have been able to establish the techniques of multiplex allele-specific amplification (MASTCR) as well as RT-PCR, both of which are able to be coupled with dried blood sampling method, so that the patients and carriers with betathalassemia mutations can easily be diagnosed at DNA and/or RNA levels. In Phase II Dr. Huang and her associates will extend and standardize these techniques; they will assemble a variety of reagents to produce standard kits and use them for testing beta thalassemia syndromes.National Heart, Lung, and Blood Institute (NHLBI)