A panel of experts at the National Organization for Rare Disorders (NORD) virtual Patient and Family Forum outlined what they see as the most impactful breakthroughs in the field of rare diseases, ranging from the completion of the human genome and the availability of next-generation sequencing in the clinic to genome editing and its use for the treatment of monogenic diseases.

Therapeutic advances that are on the horizon and other potential upcoming developments were also discussed in the session, the final plenary of the 2-day virtual event. All panelists expressed high hopes for the future, acknowledging that challenges still exist and should not be underestimated but that it is possible to get to a better place through partnership.

Importance of Scaling Up Access to New Technologies

A topic that emerged throughout the session was the necessity of scaling up the diagnosis of genetic diseases, thereby increasing access to treatments for more people and empowering families. 

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Euan Ashley, MD, PhD, a cardiology professor at Stanford University, California, explained how moving from exome sequencing to whole-genome sequencing is allowing researchers to take a more precise and even look at the genome, beyond single-letter changes, and to be able to explain why some people affected by the same genetic disease have a more serious type while others have milder forms.

Wendy Chung, MD, PhD, Kennedy Family Professor of Pediatrics and Medicine and Director of Clinical Genetics at Columbia University, New York, New York, said broader access to available technologies will allow the interpretation of everyone’s genome in an equal way.

Dr. Chung, a clinical and molecular geneticist, added that some rare diseases may not be as rare as perceived, and scaling up access to the technology can help increase “the size of our [rare disease] clubs” to be able to advocate for a specific condition. She gave the example of real-time sleep monitors, heart monitors, and seizure monitors that people can use at home and how this approach drives the development of precision medicine.

Another point that the panelists stressed was the importance of data privacy when making the technology broadly available. Dr. Ashley also emphasized the importance of connecting people from across the globe who might have the same genetic variant.

The panelists agreed on the importance of access when diagnosing a rare genetic disease and talked about how seeing patients virtually can have a positive impact on diagnosis and treatment.

Therapeutic Advances on the Horizon

Various diseases are classified according to the technology available when they are first described, Dr. Ashley said. 

“Originally, we had just the stethoscope,” he said, referring to heart disease. “We used to find diseases according to the noises that your heart made, and that was the best technology we had.” Now, he said, we are in a place where we can identify disease based on not only the causative gene but the gene region, allowing for precision medicine and targeted treatments.

Dr. P.J. Brooks, a program director in the National Center for Advancing Translational Sciences’ Office of Rare Diseases Research, talked about the potential of genome editing in treating rare genetic diseases. He explained there are new enzymes based on derivatives of CRISPR/Cas 9 that can correct single-base mutations, and said therapeutic platforms that can cut across multiple diseases will hopefully be going into the clinic soon.

Challenges That Still Exist

Panelists also touched on the challenges that still exist in the treatment of rare diseases, especially in terms of delivering genetic treatments to different parts of the body, particularly the heart and the brain.

Dr. Chung gave the example of the COVID-19 RNA vaccine, where an mRNA molecule is delivered to the body packaged in lipids. “What else could you package?” Chung said, adding that the experience presented an interesting opportunity for the treatment of rare diseases.

The speakers stressed the importance of early diagnosis, before symptoms appear, so treatment can be more effective. Dr. Brooks noted the legal and financial implications of newborn screening and early diagnosis and added that discussion is on the table between the National Center for Advancing Translational Sciences (NCATS), National Institute of Child Health and Human Development (NICHD), and the National Institutes of Health (NIH) about better ways to diagnose patients who are amenable to gene-targeted therapies.

Reaching the Next Level

According to Dr. Ashley, the incremental addition of solving each problem we face today will have a multiplication effect and allow for better diagnosis and treatment in the future.

Dr. Chung proposed whole genome sequencing as an option for newborn screening. This way, she said: “every baby gets the same chance at the best and healthiest life they can have”.

Dr. Brooks said that his dream is to be able to deliver genome editors to all parts of the body.


Rare breakthroughs: now & on the horizon. Session presented at: 2021 Living Rare, Living Stronger National Organization for Rare Disorders Patient and Family Forum; June 27, 2021.