Why Every Human Being Stands to Benefit From Rare Disease Research


All too often, disease research is conducted and treatments are developed solely because of the potential for profit. Common diseases are commonly researched as multiple pharmaceutical companies vie to find profitable treatments which will be purchased by hundreds of thousands of people. This model of disease research may well benefit treatments for common ailments such as asthma, cancer, and diabetes, but we are missing the greater goal in all this — the invaluable prize for the entire human race of learning exactly how our bodies work.

As far as we have come with modern medical research, the human race is still far from attaining complete understanding of how our bodies function on a cellular and molecular level. While we’ve identified around 20,000 different protein-encoding genes in the human genome we are barely scratching the surface of understanding the complex processes involved in protein expression, the function of each protein on a cellular level, and cell-to-cell communication.

Rare disease research shouldn’t matter only to those whose friends and family members who have rare diseases. It should matter to every human being, because this research offers critical insight into how our bodies function and has the potential to bring about prevention, treatments, and cures for innumerable common diseases.

Seventeenth century English physician William Harvey understood this, stating, “Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows tracings of her workings apart from the beaten paths; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by careful investigation of cases of rarer forms of disease.” In other words, if we want to understand exactly how a certain protein or biological pathway works in our bodies, the first thing we should be studying is the disease or syndrome that occurs when that protein or pathway malfunctions.

Already, our limited research on rare diseases has led to invaluable understanding of many more common diseases including: pediatric cancers, heart disease, and Alzheimer’s disease. Study of rare diseases have also led to unique insights into the treatments of cancer, Ebola, diabetes, and migraines.

I have two daughters with the rare genetic disorder Bardet-Biedl syndrome (BBS), which affects approximately one in 160,000 people. Their genetic disorder causes obesity, cystic kidneys, liver fibrosis, endocrine disorders, blindness, autism, and difficulty with balance and coordination. The few researchers who have somehow found funding to learn more about this syndrome have discovered more than 20 different proteins which, if mutated, may cause this syndrome. These researchers realize that we know very little about how any of these proteins function within cells, but that a precise understanding of these proteins may hold keys to understanding biological pathways that underlie human diseases which are currently at epidemic levels in the world — diseases such as obesity and macular degeneration.

Yes, I desperately want to see funding for rare diseases increased by our governments, and you should, too. Every human being on this planet, and all of our descendants, stands to benefit from the invaluable understanding gained from research of rare diseases.

World Rare Disease Day is February 28, 2017. Please speak up for the funding of rare disease research. Please join my family in the fight to find a treatment for my daughters, a more complete understanding of how all of our bodies work, and potential treatments and cures for innumerable diseases and conditions that affect us all. We should all “care about rare.”

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