National DNA Day: Cracking the Code on Rare Diseases and Unlocking Hope

April 23, 2024

by Shruti Mitkus, Ph.D.

National DNA Day is celebrated each year on April 25th to commemorate the discovery of DNA’s double helical structure by James Watson and Francis Crick in 1953. The story around the events leading up to this momentous discovery is widely known. Today, I would like to reflect on how the mystery surrounding the discovery of DNA’s structure bears resemblance to the enigma that often surrounds rare diseases and what we can learn from the events leading up to the discovery.

Similar to the complexity and elusiveness of DNA’s structure, rare diseases are often shrouded in uncertainty and present complex challenges in diagnosis and treatment. With fewer patients affected than more common conditions and unknown genetic causes, accurate diagnosis and effective treatment for the vast majority of rare diseases remains elusive. Many families are therefore forced to travel down a long and prolonged path in search of answers, support and solutions.

Learn more:

Rare Disease Facts

Patient Support

Understanding, Discovery & Treatment

Complexity and Elusiveness

In 1868, Friedrich Miescher discovered DNA (which he called ‘nuclein’) and successfully isolated it from white blood cells. However, like most scientists of his time, Miescher believed that proteins were responsible for heredity, not DNA. This changed in 1944, when Oswald Avery’s groundbreaking experiments showed that DNA was responsible for passing traits from one generation to another. Despite this discovery, the structure of DNA remained elusive for decades, largely due to a lack of understanding on how a simple chemical molecule could carry out the complex activities needed for genetic transmission. It was not until 1953, with the dramatic announcement of its double-helical structure, that the mystery of DNA was finally solved.

Innovative thinking leads to DNA discovery

The breakthrough in understanding DNA’s double helix structure required exceptionally creative thinking and perseverance. DNA was notoriously difficult to handle experimentally, “tirelessly recalcitrant from a crystallographer’s view” (Sayre 1975). To overcome this, Francis and Crick relied heavily on Rosalind Franklin’s X­-ray crystallography pictures and managed to derive meaning where others before them had either not fully grasped the significance of the data or had outright failed. It has been speculated that what made Francis and Crick so creative was that unlike others, they took risks, persevered with repeated trial and error using their ball and stick models and continuously learnt from past failures, tweaking and altering the design to see if it “fit” the scientific data.

When Watson and Crick unveiled the double helix model of DNA, they ventured into uncharted scientific territory. Likewise, rare diseases represent unexplored frontiers in healthcare, where much remains to be done. Unraveling the mysteries of rare diseases demands pioneering research, unwavering tenacity in the face of failure and relentless pursuit of knowledge. Discovering the molecular basis of disease, getting accurate diagnostic assays, finding pathogenic gene variants, developing sensitive diagnostic assays, identifying biomarkers and meaningful endpoints, developing patient registries, conducting natural history studies and robust clinical trials, all while navigating funding headwinds may seem like insurmountable obstacles. Failure is always a possibility when working in a complex and challenging field like rare diseases but we cannot let the fear of failure or waiting for a perfect system keep us from persevering because the lives of 30 million people worldwide depend on it!

Learn more about Global Genes affiliate groups that address unmet needs and drive progress towards treatment for rare disease:

Global Advocacy Alliance

Corporate Alliance

Competition and Collaboration

While we may be tempted to think that Watson and Crick happened to discover DNA’s structure by generating and interpreting data in isolation, this was certainly not the case. Like most scientific progress, there was a gradual learning process from discoveries made by previous researchers that paved the way for this breakthrough. At the time, a number of scientists were trying to solve the mystery of DNA’s structure, with an increasing sense of competition. In fact, Watson and Crick started working on DNA when the director at the Cavendish Lab in Cambridge, William Lawrence Bragg, did not want to lose the discovery to Linus Pauling, an American physical chemist (Watson 1968). 

Interestingly, Pauling had published a paper earlier in 1953 in which he proposed a triple helical structure of DNA that turned out to be wrong. This competition led to a race between the two teams to solve DNA’s mystery, which probably motivated creative thinking and a renewed sense of urgency. The extent of collaboration between Watson and Crick and Rosalind Franklin is a hotly debated topic with some believing that Franklin’s data was essentially stolen while others arguing that Franklin was a willing scientific collaborator. Regardless of the true circumstances, it is undeniable that scientific advancement cannot occur without cooperation and sharing of data.

The same can be said for rare disease research as the  quest to understand them and develop effective treatments requires a global collaborative effort. This is particularly important given the small number of patients with each individual rare disease. It is critical that data (both clinical and genetic) be shared as this will enable researchers, clinicians, patients, and advocates from diverse backgrounds to pool resources and share knowledge. The collective efforts of the global community, through collaboration (and perhaps with a little competition!) is the only way to accelerate progress for rare diseases.

RARE-X is a research program of Global Genes and provides a collaborative platform for global data sharing and analysis to accelerate treatments for rare disease.

Learn about RARE-X

As we commemorate National DNA Day, we reflect on the path leading up to the discovery of DNA’s structure and what lessons can be learnt from it. Despite numerous setbacks and obstacles, James Watson, Francis Crick, and their contemporaries persevered in their pursuit of understanding DNA’s structure. Families living with rare diseases also face many challenges, as does our understanding of the underlying causes and developing effective treatments. Yet, just as scientists did not give up until DNA’s structure was cracked, rare disease advocates and researchers demonstrate unwavering determination and resolve to continue the fight until every rare disease is understood, treated, and ultimately, cured. 

Shruti Mitkus, Ph.D., is the director of patient services for Global Genes. She has over 20 years of experience in human molecular genetics. While Shruti loves the science of genetics, she is most passionate about translating her knowledge of genetics in an approachable and accessible manner. She is an ardent believer in the power of education to empower and ultimately improve the lives of rare disease patients.


Chernyk, A. (2020). The Discovery of DNA.
Sayre, A. (1975). Rosalind Franklin and Dna. New york: w.w. norton & co.
Watson, J. (1968). Atheneum Press (US)

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