Genetic Diseases

 

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Improvements in genomic medicine have led to quick, accurate, and affordable techniques for diagnosing genetic diseases. Genome-wide studies have increased our understanding of some of the most prevalent chronic diseases such as cardiovascular disease and diabetes.

Attempts to integrate knowledge into clinical practices are still in the early stages. Improvements are needed in both the integration and implementation of applied genomic medicine.

Diseases such as cystic fibrosis, Huntington’s disease, and X-linked muscular dystrophy have all been characterized in terms of individual gene mutations, yet many genetic diseases lack such knowledge.

Additionally, genomic medicine can allow for a more structured approach to diagnosis of diseases by consideration of the genome. This will allow for acceleration of molecular diagnosis and reduction of the duration of empirical treatments and genetic counseling.

Pine has been involved in a number of studies involving important human genetic diseases, and we are currently looking to identify future partners to utilize our platform for their studies. One of these was the use of the T-BioInfo platform to perform ChIP-seq, a chromatin immunoprecipitation analysis, in patients with and without Alzheimer’s (AD) to identify single nucleotide polymorphism’s (SNPs) that differed across patients. The image above demonstrates the absolute test value for differentiation between AD and control patients. After further analysis, this can be used to identify significant biological networks


 

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