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Using Automated DNA Analysis To Identify Rare Genetic Diseases

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Posted July 7, 2017

Modern science has allowed a greater understanding of rare disease genomics giving doctors the ability to identify potential debilitating genetic diseases before they become a major concern. The Human Genome Project was the foundation that the next generation of medical science has been built upon. Rather than trying to treat the symptoms of a disease doctors and scientists today are now able to focus upon the cause, which means that the likelihood of finding a cure is much higher.

In many cases doctors struggle to help their patients because finding the underlying cause of the problem is challenging to say the least. The good news is that automated nucleic acid extraction techniques are improving while also becoming less expensive. That means that more and more patients will have access to this technology, which can mean a huge difference in their length and quality of life.

What makes rare genetic diseases so challenging for doctors to treat is the fact that they lack familiarity with them. When a rare genetic disease only affects a handful of people around the world the chances that a random doctor will identify it as the cause of his patient’s problems are pretty slim. Instead of relying upon diagnosing a rare genetic disease based upon it’s symptoms, using DNA extraction and analysis it’s possible now to come up with a definitive diagnosis. Once this happens doctors can then formulate a treatment plan that is usually much more effective since they have a better understanding of what is causing the problem. This course of treatment can include medication, specialized diets, and even physical therapy and emotional support.

What exactly is the connection between rare diseases and genetics? Approximately 80 percent of rare diseases have a genetic component that either causes the disease, contributes to the disease, or make the symptoms of a disease more pronounced. With genetics playing such a major role in the development of rare diseases, the fact that identifying mutations and other genetic issues in patients is a huge step forward. For many patients the mere fact that a definitive diagnosis can be made is a relief even if there is no universally agreed upon treatment for their condition. After years of suffering finally knowing what is wrong can provide patients with a huge psychological relief.

In the coming years as the automation of DNA extraction becomes more advanced more and more patients will have access to this life changing technology. Patients will no longer have to suffer and not know what is wrong as doctors struggle to try to come up with a treatment plan for them. Doctors will no longer be forced to simply treat the symptoms of a disease rather than finding the root of the problem.

Rare diseases provide a unique challenge to doctors because in many cases a doctor may not even be aware of a disease that is afflicting their patient. Genetic analysis gives doctors the insight necessary to help patients in ways that couldn’t have even been imagined just a few short years ago.

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