Rare Disease Day Focuses on ‘Diagnostic Odyssey’

Rare Disease Day is an opportunity to heighten awareness of rare diseases, take stock of the progress that’s been made in finding treatments and cures, and advocate for policies that will improve the lives of rare disease patients.

One focus of CBIA’s Bioscience Growth Council‘s presentation at this year’s event at the state Capitol was the contributions of its members—emerging biotechs, established biopharmas, and research institutions—to rare disease research and development.

Almost every member of the council is involved in some aspect of rare disease R&D.

Alexion Pharmaceuticals has brought to market breakthrough medicines for several rare diseases, including PNH, a rare disease that destroys blood cells and bone marrow. Pfizer has contributed extensively in the hemophilia space.

Novartis’ cutting-edge R&D has produced medicines for rare blood vessel abnormalities. Sanofi has built a deep expertise in immune and inflammatory response mechanisms that has helped our understanding of the onset and progression of several rare diseases.

The Jackson Laboratory Rare Disease Translational Center continues to be a magnet for NIH and other grants to fund its multi-disciplinary approach to studying rare genetic disorders.

Connecticut Children’s Medical Center is in the forefront of using cutting edge genomic testing to speed diagnosis of rare diseases in infants.

Rare Diseases Aren’t Rare

One of the striking facts about rare diseases events is how prevalent rare diseases are, afflicting approximately 30 million Americans.

This might seem incongruous, but while any individual rare disease is in fact rare—defined as a malady that affects fewer than 200,000 people—there are over 7,000 rare diseases.

Research and development is critical in the rare disease space because, for nearly 90% of rare diseases, there is no treatment.

Much progress has been made in treating rare diseases like sickle cell disease—in fact, this year a gene therapy cure for the disease was approved by the FDA—but much work remains to be done on thousands of other rare diseases.

Representing industry’s contribution to rare disease research, the council’s Paul Pescatello noted that the time and cost associated with creating new rare disease medicines is no different from that for diseases with broader patient populations: 12 to 15 years and $2.7 billion.

“Tax and other policies that appreciate this very unique research and development profile and demanding business model, policies that indicate an understanding that companies and research institutions can’t—and won’t be able to—do the research unless they’re able to recoup their huge investments are critical,” he said.

“Anything we can do to promote and reward life science R&D helps speed rare disease research and bring rare disease treatments and cures across the finish line of FDA approval.”

Rapid Genome Sequencing

Another focus of this year’s event was the “diagnostic odyssey” rare disease patients face.

A wide spectrum of patient groups described the seven grueling years of testing, hospitalizations, and visits to all manner of specialists it takes (on average) to accurately and definitively diagnose a rare disease.

Too often a rare disease is identified too late for successful treatment.

Too often a rare disease is identified too late for successful treatment.

Newborns, for example, can be afflicted with a rare retina disease that, untreated, causes blindness within the first few months of life.

Fortunately, new technology that marries enormous computing power, advances in software and biology can shorten the rare disease diagnostic odyssey.

Biomarkers

Biomarkers take many forms, but the frontier of biomarker R&D is identifying genetic abnormalities in blood and tissue to diagnose rare diseases.

Biomarkers are, as well, a great aid in assessing and monitoring clinical treatment.

Beyond biomarkers, whole genome sequencing is becoming the gold standard for understanding and diagnosing rare diseases.

A genome is the complete set of all the information contained in a person’s 20,000-25,000 genes. Genes are made up of varying combinations of the four chemicals that make up your DNA. There are 3 billion different combinations.

Whole genome sequencing reduces the seven year diagnostic odyssey from seven years to a few weeks.

Our genes and the 3 billion different combinations of DNA that make up our genes are the recipe, the code, the blueprint of life. A person’s genome contains all the information needed for a person to develop and grow.

Whole genome sequencing is a way for researchers and doctors to “see” a person’s genes and identify variations that lead to different traits, such as hair color or height, and mutations that could lead to disease.

Especially for rare diseases, whole genome sequencing reduces the seven year diagnostic odyssey from seven years to a few weeks.

The latest technology, rapid whole genome sequencing, brings that timeframe down to as few as 48 hours.

Research Helps Us All

Pescatello concluded his remarks on industry’s contribution to rare disease R&D with the observation that incentives to spur rare disease R&D of course bring new treatments and cures to rare disease patients, but also informs and fuels insights into diseases that affect much larger patient populations.

For example, many rare diseases are forms of cancer and research on these diseases has advanced our understanding and treatment of cancer generally.

During #RareDiseaseDay, @CTBio noted the diagnostic odyssey for patients can take 7 years, but whole genome sequencing can cut that to weeks or days. “It helps patients and families unbelievably, but it also saves the healthcare system a huge amount of money,” Pescatello says. pic.twitter.com/jiQncLPfkF

— CBIA (@CBIANews) February 28, 2024

Rare Disease Day at the state Capitol concluded with a press conference by Sen. Saud Anwar (D-South Windsor) and Rep. Cristin McCarthy Vahey (D-Fairfield), co-chairs of the legislature’s Public Health Committee.

Of particular note was the committee’s reference to forthcoming legislation that will facilitate biomarker testing and whole genome sequencing.

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Paul Pescatello is the executive director of CBIA’s Bioscience Growth Council and chair of We Work for Health Connecticut. Follow him on Twitter @CTBio.