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Personetic is a company that focuses on bringing cost-effective and time-saving diagnostic technology for the early detection of different genetic diseases. Our company is the first of its kind in Pakistan. Our goal is to deliver personalized medicine to Pakistani people in the most affordable of ways. Here at Personetic, we believe in a proactive approach to tackling health related issues. Prevention is better than the cure in our eyes. We utilize your in-built manual to provide you with a list of diseases that you are likely to be susceptible to (even before you start to feel ill). This will help you and your doctor select the most effective course of treatment.
Our technology brings together different and distant disease related molecular markers as a single product. The markers we make use of are single nucleotide polymorphisms (SNPs). These markers are dispersed within our genome and presence of multiple SNPs can result in a genetic disease. Our tech assembles these distributed multiple SNPs into a single unit that can rapidly and cost-effectively be analyzed.
Our products are currently targeting the early detection of breast cancer (BC) and metastatic breast cancer (MBC). These have two part benefits. Firstly, the patients that have BC can also have the advantage to know whether their cancer has the potential of being metastatic. This would greatly help in designing their medical regime. Secondly, our product can be used by healthy individuals to figure out whether they might be at the risk of BC or MBC in the future. This would help them make healthier life choices to prevent or delay the onset of such a deadly disease.
What are Genetic Diseases?
What are Genetic Diseases?
Genetic diseases are disorders caused by abnormalities within the DNA of an individual. These abnormalities arise as a result of mutations that occur due to various factors. One important factor is the environment the individual is residing in. Genetic disorders can be divided into 3 main categories:
single gene disorders
chromosomal disorders
multi-factorial disorders
Single gene disorder is the presence of a mutation within a single gene. Diseases like cystic fibrosis, Huntington's disease and muscular dystrophy are examples of this disorder. Chromosomal diseases are those that arise as a result of variation in the number and structure of chromosomes. Examples include Down's syndrome, Edward's syndrome and Turner's syndrome. Multi-factorial disorders are those that involve mutational changes in multiple genes in the genome. These mutational variations occur due to complex relations between different environmental factors and lifestyle choices. One well-known multi-factorial disease is breast cancer.
What are Single Nucleotide Polymorphisms (SNPs)?
What are Single Nucleotide Polymorphisms (SNPs)?
SNPs are the most common genetic variation found in the human genome. There are roughly 10 million SNPs throughout the human genome. A SNP represents a point mutation of a single nucleotide in the DNA sequence. Point mutation can be an insertion, deletion or substitution. Not all single nucleotide mutations are SNPs. The SNPs can be found in both the coding and non-coding regions of our genome. SNPs causing nonsense (an insertion or deletion resulting in truncation) or missense (substitutions resulting in protein change) mutations are linked with diseases. Variations in the DNA sequence affect how humans develop disease and respond to the medication administered. A study of SNP profile can allow scientists to identify the set of genetic reasons responsible for the development and progression of a disease. An individual SNP is not sufficient to cause a disease but combinations of functionally relevant SNPs can have a genetic effect. SNPs are emerging molecular markers that are being used to calculate the susceptibility of an individual to a particular disease.
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