Genetic diseases are caused by faulty DNA (i.e. mutations). They can be single or multigene disorders. At present, over 4000 single gene disorders are known. Gene’s role is being deciphered to more and more diseases. Some of the well-known genetic diseases are diabetes, heart disease, cancer, and Alzheimer’s disease. According to American Cancer Society, in the US alone, a total of 1,658,370 new cancer cases and 589,430 deaths from cancer (a multifactorial disease including genetic component) are projected to occur in 2015.
Deerwalk Genomics team has been working on human genome variation science and primarily works on extraction (i.e. curation) of gene variations (mutations) and their overall information from biomedical literature, interpretation of mutations’ significance, and integration of them into the database. This work is required for various clinical and research purposes. On clinical grounds, the information is used to make decisions about diagnosis, treatment, and prevention of patients suffering from various genetic diseases such as diabetes, heart diseases, cancers, Alzheimer’s disease, etc.