Rare Disease Day Highlights Patient Stories, Policy Needs
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.
This year, a snowstorm delayed Rare Disease Day in Connecticut until March 23.
The extra time was well spent, as it allowed a broad spectrum of patient groups to participate and progress to be made in nominating candidates to serve on the Rare Disease Advisory Council, which was established via legislation at the close of the 2022 General Assembly legislative session.
What’s most striking at these 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 so critical because, for nearly 90% of rare diseases, there is no treatment.
Much progress has been made in treating rare diseases like sickle cell disease and hemophilia, but much work remains to be done on thousands of other rare diseases.
The focus of CBIA’s Bioscience Growth Council at this year’s event at the state Capitol was the contributions of its members—emerging biotechs, established biopharmas, and research institutions—to research and development.
Much like their response to COVID, 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.
Rapid Genome Sequencing, Biomarkers
This year, Craig Miller, a scientist at Danbury-based Boehringer Ingelheim in captivated legislators and policymakers as he described his work to identify biomarkers and the use of biomarkers in treating rare diseases.
Biomarkers take many forms, but the frontier of biomarker R&D is identifying genetic abnormalities in blood and tissue to diagnosis disease.
Often the greatest hurdle faced by patients and caregivers is the diagnosis odyssey—the years it can take to accurately identify the pathology causing a disease.
Biomarkers are, as well, a great aid in assessing and monitoring clinical treatment.
Miller’s comments also served to underscore the importance of building support for policies that incentivize rare disease R&D.
The time and cost associated with creating new rare disease medicines is no different from that for diseases with broader patient populations: 12-15 years and $2.7 billion.
At the federal level, the Orphan Drug Act provides seven years of exclusivity—additional intellectual property protection—and a 50% R&D tax credit for rare disease medicines.
In Connecticut, bills are in play at the General Assembly that would promote rapid genome sequencing and biomarkers in diagnosis and treatment. The Bioscience Growth Council testified in support of this legislation.
Research Helps All of Us
Incentives for rare disease R&D is money well spent. It of course brings new treatments and cures to patients.
But these R&D activities also inform and fuel 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.
The March 23 event at the state Capitol concluded with a press conference by state Sen. Saud Anwar (D-South Windsor), co-chair of the legislature’s Public Health Committee.
He introduced several members of the newly formed advisory council, including Joanna Gell, a pediatric oncologist and physician scientist from The Jackson Laboratory for Genomic Medicine.
Anwar’s message was one filled with hope—that the council, coupled with wise public policy, will make great strides in making treatments and cures for rare diseases far less rare.
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.
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