Funding Research Into Rare Diseases

What do Raymond Damadian, Alexander Fleming, James Watson, Maurice Wilkins, and Francis Crick, and Francoise Barre’-Sinoussi have in common? They are medical researchers that made some of history’s most important medical breakthroughs.

Raymond Damadian invented the first MRI machine while researching sodium and potassium in living cells. The Scottish doctor and researcher Alexander Fleming discovered penicillin, the very first naturally grown antibiotic. James Watson, Maurice Wilkins, and Francis Crick received the Nobel Prize in Medicine for discovering the double helix structure of DNA. Francoise Barre-Sinoussi discovered the retrovirus HIV, which causes AIDS. Can you imagine what would have occured if these scientists did not have the funding needed to do the research that led to these life-saving and historic medical discoveries? The consequences are horrific to consider. Small Pox would still be crippling or killing countless people every year. Medical breakthroughs made through our understanding of DNA would never have happened; this includes the vaccine for COVID-19. We would have no way to look inside the body’s soft tissues to diagnose countless disorders, injuries, and diseases. AIDS would still be killing tens of thousands of people around the world every year. We owe our health, even our very lives, to these exceptional scientists.

“Modern medical advances have helped millions of people live longer, healthier lives. We owe these improvements to decades of investment in medical research.” Ike Skelton

We all recognize the immeasurable benefits of medical research. However, when it comes to funding that research into rare diseases that affect more than 350 million people worldwide, the investors seem to be rarer than the diseases. Though there are many reasons for this, there are two main culprits: lack of public awareness and funding of research and development (R&D).

“It is easier to find investors to send people to Mars than it is to find companies willing to invest in researching cures for rare and complex diseases, like Huntington’s Disease or Cotard’s Syndrome.” Diana Klurfeld, grassroot organizer of Klurfeld Cares

Raising Public Awareness with Alex & Diana Klurfeld

As someone who suffers from a rare autoimmune disease, my disease dramatically impacts my life. It is never far from my mind; my condition affects something as simple as walking to the mailbox. Therefore, it is easy for me to forget that most people do not think about rare diseases daily. In fact, unless they directly impact them, most people don’t ever think about the 7,000 rare conditions that impact more than 350 million people around the world every year. This is why what Alex Klurfeld and Diana Klurfeld are doing, calling on writers, patients and medical workers to share their stories and helpful tips on everything from diet and exercise, recent research or just plain old to how to make it through the day advice, is so important.

Rare Disease Day is a day set aside globally to raise awareness about rare diseases and the people that they affect. Celebrated on February 28th each year, it provides an opportunity for doctors and patients to share how rare diseases have affected their lives and the lives of those around them. It is traditional to wear the Blue Denim Genes ribbon or “show your stripes” by wearing zebra print. The zebra is the official awareness animal of rare diseases because each zebra has unique stripes, just as each rare disease is unique.

Another way Rare Disease Day is Celebrated is by organizing community events and fundraisers for specific rare diseases. Money that is brought in by these events is donated to organizations that support patients who live with the disease. The National Organization for Rare Disorders (NORD) has information packets to help you plan and host your event. You will find useful materials on their website at www.rarediseases.org.

“We founded The Klurfeld Cares Foundation in large part to shine a light on the diseases that reside in the shadows of obscurity. Until the general public understands how broadly the effects of these ‘rare’ diseases are felt and demands that better treatments are made available, we will not see the investment of public funds needed for research. Unseen means unfunded.” Alex Klurfeld, Klurfeld Cares

Unfortunately, our society often looks down on people who are ill as weak or unproductive. These baseless and cruel assumptions can cause patients impacted by these diseases to feel ashamed and hide their condition. But that only adds to the ignorance of the general population about these conditions and disorders. The more exposure people have to the facts regarding rare diseases, the less they will attach stigmas to them, and the greater the demand for further study will be. Talking about your illness in online forums and social media is a great way to raise public awareness.

Lack of investment in R&D

The most significant private investment into the research and development of new treatments and medications for diseases comes from the pharmaceutical industry. This industry is different from other kinds of industries because it directly affects public health and people’s lives. It is a natural desire for people to want to live long and healthy lives. This desire fuels the constant need for the products developed by the pharmaceutical industry.

Pharmaceutical companies make up one of the world’s largest industries. In 2018, the global pharmaceutical market was worth over 1.2 trillion dollars! The drugs and therapies that have been developed in large part by the pharmaceutical companies have extended our life spans and given humanity a better quality of life. But as science progresses and people live longer, there is an ever-growing demand for new medications.

The pharmaceutical industry is the second largest investor in the research and development of any industry in the world. The only sector to invest more is the information communication technology industry. However, investment by pharmaceutical companies comes with a demanding and time-consuming process of development, testing, and a statistically low rate of drugs making it through the process to market. Every drug developed comes with a very hefty price tag, and the return on the investment takes years, even decades, to see.

For these reasons, drug companies focus on developing drugs that will be the most profitable and have the most significant potential public appeal. To put it bluntly, it doesn’t make financial sense to invest years of research and development in diseases that affect less than 5 in 100,000 people (which is how rare diseases are defined). Because pharmaceutical companies’ first responsibility is to the bottom line, their interest and the greater good of public health do not always align.

When they develop medication for rare diseases, it is often a secondary use for a drug designed for another condition entirely. For example, methotrexate was developed as chemotherapy to fight cancer. However, it is used in the treatment of autoimmune diseases to suppress the immune system.

Even when drugs are developed for a rare disease, the medicine sometimes costs so much that patients can’t afford it, or insurance companies refuse to pay for it. An example of this would be an infusion that is prescribed for multiple sclerosis patients. It is meant to be administered three times a year, but because it cost around $100,000 per dose, insurance companies will only cover the medication twice a year.

“The cost of medication should not be so high that it costs the lives of the patients it was created to help.” Alex Klurfeld, The Klurfeld Cares Foundation

The best avenue to get drug companies to invest in R&D for rare diseases is to raise public awareness about the conditions and the demand for effective and new medication protocols. Like with any business, they will create a product when they know there is a demand.

Public Funding for Research

“I think history would say that medical research has, throughout many changes of parties, remained as one of the shining lights of bipartisan agreement, that people are concerned about health for themselves, for their families, for their constituents.” Francis Collins

The federal government also can affect drug companies’ research decisions. The first way it accomplishes this is by increasing the demand for medications through Medicare and Medicaid and giving employers tax breaks to provide insurance to their employees.

Secondly, the government can increase the supply of medications. It provides funding for the R&D of new medicines through publicly funded grants and subsidies. It gives tax breaks to private companies when they develop certain drugs. The government also offers private companies patents that delay manufacturing generic drug formulas for a set amount of time, allowing the inventing company time to profit from the drug they developed.

Finally, the federal government can use policy to promote the production of new drugs. The most recent example of this that we find is the federal government legislating the need for a vaccine for the COVID-19 virus, which caused the global pandemic.

In Conclusion

If we want to see rare diseases treated more effectively and ultimately cured, we must put our money where our mouths are. And if we can’t contribute money, we can provide our time and our knowledge to efforts like the one Diana and Alex Klurfeld are organizing. We must raise public awareness and petition pharmaceutical companies and the federal government to fund the research and development of these much-needed medicines.

“Change will only happen if we demand it from those who have the resources to bring it about. It is on us to hold our elected officials accountable for the public health crisis of rare diseases in our country.” Diana Klurfeld, CEO The Klurfeld Cares Foundation

Resources

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Get Involved — Rare Disease Day. NORD (National Organization for Rare Disorders). (2021, February 4). https://rarediseases.org/rare-disease-day/get-involved/.

Ike Skelton Quote. A. (n.d.). https://www.azquotes.com/quote/791910?ref=medical-research.

James Watson, Francis Crick, Maurice Wilkins, and Rosalind Franklin. Science History Institute. (2020, July 23). https://www.sciencehistory.org/historical-profile/james-watson-francis-crick-maurice-wilkins-and-rosalind-franklin.

Johnson, C. Y. (2019, April 26). Why the diseases that cause the most harm don’t always get the most research money. The Washington Post. https://www.washingtonpost.com/news/wonk/wp/2015/07/17/why-the-diseases-that-cause-the-most-harm-dont-always-get-the-most-research-money/.

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Research and Development in the Pharmaceutical Industry. Congressional Budget Office. (n.d.). https://www.cbo.gov/publication/57126.

Why Rare Diseases Don’t Receive Enough Research Funding. Good Days: Effective Compassion. (n.d.). https://www.mygooddays.org/blog/why-rare-diseases-dont-receive-enough-research-funding.

Wikimedia Foundation. (2021, March 24). Raymond Damadian. Wikipedia. https://en.wikipedia.org/wiki/Raymond_Damadian.

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