cole lyman CS, Bioinformatics & Life

You Don't Know How Bad You Are Until You Try to Be Good

One interesting phenomenon that I have noticed in myself is that I perceive that I am better than I actually am in reality. Call it pride or high expectations; either way, it seems that I never realize where I was until I begin to improve. When we don’t try to improve ourselves, we will have nothing to compare ourselves to in the future. If we never surpass our current state, then we will never realize that we were ever lacking in our old state.

I have also noticed that the moment that we begin on the path of improvement it seems as if that path is impossibly difficult, so much more difficult than it was before. I believe that this is due to the fact that change is difficult, and as stated previously, I believe that my abilities are higher than they are in reality.

Why try to improve?

Some may ask what the point is in striving to do your best? Is your current state not good enough? I can only speak for myself (obviously), so why do I strive to do my best? I see achieving your highest potential as the greatest challenge this life has to offer. Whether it be in sports, music, academics, or business, it is human nature to embrace difficulties and overcome them. I see overcoming weaknesses and flaws in my character as a challenge that is to be overcome, that I enjoy immensely.

Why is improving so difficult?

You don’t know how hard improving is going to be until you attempt it. If our current state of being isn’t easy or comfortable, then we wouldn’t that way in the first place. It is much easier to stay the way you are than to fundamentally change your character; however, change for the better is always worth it, no matter how difficult it was. Doing what we have always done is definitely easier, but making the change that we want can bring the satisfaction back to life that we may be lacking.

-Cole

Wait for it Or not

Wait for it… Or not.

Wait for it… Or not.

When you can’t wait…

Wait for it… Or not.

When you can’t wait…

Source: http://www.consciousvanguard.com/blog/2015/10/22/patience-is-the-virtue

In a world where prayers to the ‘omniscient being of the universe’1 begin with OK Google, and more information than you will ever want to know are answered instantaneously. Furthermore, having the ability to obtain almost any product that one could desire with free 2 day shipping doesn’t help us learn how to wait either.

What is the point of waiting?

What value does patience add to our lives? Learning how to wait is valuable because at some point in your life there will be something that you can’t receive/achieve instantaneously. There are many worthy endeavors that will require you to work long and hard, and if you aren’t patient enough to work to achieve those goals you will never achieve them.

Patience is arguably one of the most difficult attributes to develop. I believe the only way that you can develop patience is by waiting for it (get it?).

-Cole

Precision Medicine Rogue Therapeutics Harvard

Precision Medicine- Rogue Therapeutics Harvard 2016

Precision Medicine- Rogue Therapeutics Harvard 2016

Rare disease, genomics and patient-driven medicine may be terms that you have never heard of. All of these terms relate to precision…

Precision Medicine- Rogue Therapeutics Harvard 2016

Rare disease, genomics and patient-driven medicine may be terms that you have never heard of. All of these terms relate to precision medicine, medical treatments that are tailored to a specific patient.

These patients usually have some sort of rare disease, which is any disease that affects less than 200,000 people (in the United States). However, while the diseases themselves may be rare; having a rare disease is not rare. There are approximately 30 million people in the United States that suffer from a rare disease.

What is the purpose of precision medicine?

The goal of precision medicine is to develop treatments to alleviate rare diseases. The range of treatments available are quite limited because 80% of rare disease are genetic based. This means that while traditional medications could treat rare diseases, they will never permanently cure genetic disorders.

Undiagnosed Disease Network

Even though Precision Medicine as a discipline is still in its infant stages, there are many organizations that aim to make precision medicine available to every patient. One such organization is the Undiagnosed Disease Network (UDN). This is an initiative funded by the NIH to aid those with rare diseases to have a diagnosis. While only 50% of the current existing rare diseases have a foundation studying and supporting patients with that disease (let alone a cure or treatment for that disease), the UDN can help patients towards a diagnosis.

Karen, Ornella & Lysogene

Another example of an organization that supports rare diseases and have successfully produced one form of precision medicine (so far) is Lysogene. This company was founded by a mother, Karen Aiach, whose daughter, Ornella, was diagnosed with Sanfilippo Syndrome. At the time of diagnosis the doctors stated that the prognosis of Ornella was highly dysfunctional childhood development and an early death at the age of 20 (if not earlier).

“There will be no cure for 20 years, go home and enjoy the time left with your child.” — The doctors diagnosing Ornella

In spite of the doctors’ prognosis, Karen was determined to do something about her daughter’s health condition. She did research and talked to the right people and eventually brought a treatment for Sanfilippo Syndrome to clinical trials. Her daughter still lives, and has given hope to other patients with Sanfilippo Syndrome.

Unfortunately Karen and Ornella’s story is still rare when it comes to the rare disease community. There are thousands that die annually without any cure, or even any hope for a cure. This must change. As research progresses and discoveries about rare diseases are made, more cures will come. Karen, among others, are the pioneers of precision medicine. I hope for a time when all patients diagnosed with a rare disease will be as fortunate as Ornella.

You can read more about Karen and Ornella’s story here at labiotech.eu.

-Cole