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Science and the Summer Olympics

I haven't written a post in almost three weeks. That is because I have been enthralled with all that is the Summer Olympics in Beijing and the phenom that is Michael Phelps. I have been keeping up with him ever since I first got a glimpse of his talent watching the Athens Olympics back in '04. He is awesome. He is amazing. He is definitely the greatest Olympian in history. Of course Phelps isn't the only great athlete in this Olympic games. As an audience, we also have the pleasure of cheering on other great swimmers like Jason Lezak, Aaron Piersol, and Dana Torres and Jamaican runner Usain Bolt to name a few. But how do they do it? How do these athletes constantly become faster and faster and break more and more world records? Some say that it's genetics, that these athletes were born to do these things. For years, researchers have been studying the scientific factors that contribute to superior athletic performance for the select few who go on to be world-famous sportsmen. What they have determined is that it has more do to with physiology than genetics.

I came across an online article recently that quoted Dr. Michael Joyer, a Mayo Clinic physician-scientist and discussed some of the things that contribute to enhanced performance of athletes. These feats of athleticism are thought to be due to a combination of harder training and improved medical care in recent decades. It's no secret that these athletes go through very intense training sessions. I once read that Michael Phelps burns about 4000 calories in just one training session, which demonstrates just how hard these athletes can work. Because of advances in sports medicine and the positive societal attitudes to sports, they are also not concern with over-training and have the opportunities to train everyday for hours at a time. Athletes are also participating in their respective sports for longer periods of time, some Olympians competing in 2-3 Olympic games, which leads to better races and the determine of these athletes to improve their times.

The article goes into three physiological factors that impact an athlete's performance. These factors include the maximum oxygen intake (VO2), lactate threshold, and athletic efficiency. The
VO2 is, more accurately, the consumption of oxygen by a person when they are at their peak performance. It has been documented that the VO2 of an athletic is about 70-85 milliliters per kilogram per minute. This is approximately double that of the average person. A higher VO2 usually denotes more physical fitness and athletic stamina. The VO2 of an athlete usually depends on their lactate threshold, a marker of the steady-state level of performance of an individual. This is particularly important for athletes participating in longer events that dependent on physical endurance (i.e. marathon runner, long distance swimmers). Intense exercise typically leads to a build up of lactic acid in the body, which can be metabolized and used for energy by muscles. How well an athletes muscles use oxygen and the speed to which they generate lactic acid (athletic efficiency) are all important for performance. This goes back, again, to hard training which can increase these factors and to the dedication of these athletes to perform beyond our imaginations.

Though genetics have also been thought to be, at least in part, responsible for spectacular athletes, no major genes have been discovered for this. Nor have a combination of genes been found to create enhanced physical activity. Scientists would agree that it is the physiology of performance and not genetics that creates these great Olympic champions.

Patient-funded drug research

If you are a biomedical research, scientist, healthcare profression, or just aware of the drug development process than you know how it can take an upwards of 15 years and $1 billion dollars for pharmaceutical companies and smaller biotechs to bring a drug to market. It can cause problems for both patients and the business side of these companies, delaying promising drugs and causing pharma to hustle to recoup discovery and marketing costs. This also contributes to the high cost of healthcare in the US and often leads to needy people being denied proper medications. However, a even lesser known problem with the drug development model is that pharma often does not pool their energies into developing therapeutics for less common diseases; for these disorders, there aren't a big enough population of people to justify the costs of development. That is where patient advocacy groups and a new movement of patient-supported research is starting to pick up the slack.

Patient-supportd reasearch entails people who are financally-able funding drug discovery research. They often enlist the services of privately-owned labs or even pay biotech companies directly to help develop drugs. Today, I read a very interesting article online on the Wall Street Journal website called "Putting drug development in patients' hands". The article talks about a multimillionaire and cancer patient named Jay M. Tenenbaum who, after being frustrated with how slow the drug development process is and the lack of treatment options for him, developed a company called CollaboRx. CollaboRx is, in all practical terms, a virtural biotech. The focus of CollaboRx is collaborative science, bringing together scientists, clinicians, and clinical research organization from across the country to brainstorm and work toward ideas for promising therapeutics. CollaboRx also provides services like cell culturing and genetic profiling of patient samples in order to find potentially successful, tailored drug combinations from already FDA-approved agents. All in all, CollaboRx is looking to decrease the time to finding effective drug treatments for individual patients and subgroups of patients. The article goes on to describe similar stories of people whose love ones inflicted with rarer disorders including melanoma and Niemann-Pick Type C (NPC) involved themselves in patient-supported research.

If you think about it, though this is possibly for drug discovery, this still leaves some people out of the loop in the mean time. Fee-for-service aspects of these virtual companies can charge as much as $10-50K.
What about the ethical issues involved? However, traditional funding sources for biomedical research is becoming scarer based on the decline of NIH funding so is patient-funded research does offer an additional alternative in the development of therapeutics.
bio-newsworthy
New HIV inhibitor (sciencenews.org)
Drug test a success for Amgen (nytimes.com)
Point-of-care chemistry analyzer for the community oncology setting (honionline.com)
Vitamin D research continues to show benefits (redorbit.com)
Leprosy in film context

Some friends and I started an independent and foreign film club where we get together once a month and watch a "little-known" movie that may have been overlooked and discuss them. This month, the host chose "The Motorcycle Diaries", a film that depicts the early life of Che Guevara and is based on his own written accounts. The movie shows how a simple motorcycle trip he took with a friend when he was 23-years old shaped his life and ideals and made him into the Marxist revolutionary he ultimately became. The catalyst for this change from his predetermined path of solely being a doctor was witnessing the unequality of the class system and poverty across Latin America but more profoundly, through his work at a leper colony in San Pablo where he was confronted with the segregation of the sick and the healthy. After watching the film when we were discussing it, someone asked about the causation of leprosy and exactly what it is. There was also a moment in the film where it was mentioned that leprosy can not be spread after a person undergoes treatment, which none of us had ever heard before. We did not know exactly what this treatment was nor did the script of the film give us any answers. I then became interested in learning more about this disfiguring disorder and any known therapy.

I first remember hearing about the condition of leprosy from sunday school, where we read passages of the bible. Going back to biblical times, leprosy was described as a horrific disease where limbs commonly fall, discoloration of the skin can spread to clothing, and hair turns white. Though this has been translated as lepra or leprosy, this is apparently more common to the disease tzaraath. Leprosy, a disease caused by the bacterium Mycobacterium leprae, initially surfaces as dark or light spots on the skin and loss of feeling in the toe or finger. As time passes, more serious effects of the disease are apparent due to the bacteria attacking the peripheral nervous system. The infected person experiences numbness through limbs. This is particularly dangerous because the person could severely injure themselves and have infections in these areas and not know it. Repeated injury could then result in lost of limbs. Mycobacterium leprae is also known to attack the nerves around the eyes, affecting the blinking reflex which is important to ward of debris and moisten the eye. Due to this lack of protective mechanism by the eye, blindness may result. Damage to the internal lining of the nose is also common. This bacteria favors temperatures slightly below that of normal human body temperatures, which contributes to why infection of superficial body tissues (i.e. skin, nose) is common. Additionally,
Mycobacterium leprae almost exclusively infects humans, making studying this disease difficult because of lack of good animal models.

Against popular belief, leprosy is not very contagious. In biblical texts, lepers were viewed as "unclean" and were shunned from society. This is also consistent with the modern-day treatment of lepers who are expelled from their communities and forced into quarantine in leper colonies. However, modern medicine has shown this to be totally unnecessary. Leprosy is thought to spread through the coughs and sneezes of an infected person though prolonged contact is required. Also, 95% of people have a natural immunity to this bacterial infection. Additionally, treated persons with leprosy are no longer contagious and can not pass the disease on.

Two major forms of leprosy exists - tuberculoid and lepromatous. The organism that causes leprosy has a relatively long incubation time which is different between tuberculoid and lepromatous leprosy. This is possibly due to
Mycobacterium leprae having a slow dividing time (approximately once every 12 days), unlike other bacteria. About four years is needed before symptoms of tuberculoid becomes obvious while an upwards of eight years for the more severe lepromatous leprosy is needed. Both forms produces skin discoloration and spots, though the lepromatous form causes disfiguring nodules. A person will commonly develop tuberculoid leprosy but if it is not treated promptly or an immune response to the organism is not sufficient, lepromatous leprosy can develop. Leprosy is traditionally diagnosed using a skin scraping exam which including skin biospy. In order to distinguish between the two types, a lepromatous skin test is often given to patient inflicted with leprosy.

In terms of treatment, in the late 1930s, dapsone was introduced as a treatment strategy for leprosy. Dapsone is a antibacterial drug that inhibits bacterial synthesis of dihydrofolic acid, preventing nucleic acid synthesis. This drug ultimately failed as a single agent due to acquired drug resistance. However, the introduction of a multidrug treatment (MDT) for leprosy makes leprosy curable. In addition to dapsone, patients are also given the rifampin, a semi-synthetic compound which binds to the bacterial DNA-dependent RNA polymerase beta subunit and inhibits its activity, and clofazimine, an anti-inflammatory agents which controls redness common to leprosy. Treatment typically lasts six months to two years and has proven successful.

The World Health Organization (WHO) estimates that there are still 200,000+ cases of leprosy still remain. Though most countries have eliminated this disease among their populations, small numbers of countries have pockets of leprosy (i.e. areas in South American and India). As of 1995, WHO makes available free MDT treatment worldwide.

Recent news:
WHO/Novartis sign MoU to extend the MDT donation
Leprosy cases in Brazil drops by 24.27% in last two years

References:
About.com: Leprosy (Hansen's disease)
MedlinePlus: Leprosy
Merck: Leprosy
World Health Organization: Leprosy Today