In the Press
Chiesi Global Rare Diseases Announces Support for Jeffrey Modell Foundation’s Global Genetic Sequencing Initiative “Jeffrey’s Insights”
01 June 2022
- Goal to test 10,000 people around the world suspected of a primary immunodeficiency -
- Program available to more than 900 physicians at research, diagnostic and referral centers in the Jeffrey Modell Centers Network -
BOSTON, June 1, 2022 -- Chiesi Global Rare Diseases, a business unit of Chiesi Farmaceutici S.p.A., an international research focused healthcare Group (Chiesi Group), today announced that it is joining with other pharmaceutical companies to support the Jeffrey Modell Foundation’s initiative, “Jeffrey’s Insights,” a global genetic sequencing program. The initiative is designed to identify Primary Immunodeficiency (PI) gene defects to optimize disease management and treatment. The goal of the program is to provide genetic sequencing services for people around the world who are suspected of having PIs, which are genetic defects of the immune system that result in chronic and often life-threatening infections or autoimmunity.
“One of the key challenges with rare diseases including PIs is the diagnostic odyssey that patients go through if they are not able to access the resources needed to confirm a genetic diagnosis,” said Giacomo Chiesi, head of Chiesi Global Rare Diseases. “The string of referrals and tests are exhaustive for these families, and delays in diagnosis contribute to disease progression and suffering. It does not have to be this way - next generation DNA sequencing (NGS) can significantly improve patient diagnosis and management, but these resources are frequently unavailable in regions around the world. We are proud to support the JMF in efforts to empower physicians with NGS testing and raise awareness about the importance of genetic sequencing.”
The Jeffrey’s Insights global genetic sequencing program, which utilizes Invitae’s Primary Immunodeficiency panel, is offered as a free service to the 918 physician members of the Jeffrey Modell Centers Network that includes 406 research, diagnostic and referral centers across six continents. More than 200,000 patients with PI are being followed at Jeffrey Modell Centers.
“We are pleased to welcome Chiesi Global Rare Diseases to our pharmaceutical supporters to help in this very important initiative, Jeffrey’s Insights, to genetically sequence patients with a Primary Immunodeficiency,” said Vicki and Fred Modell, co-founders of the Jeffrey Modell Foundation. “Our early studies have demonstrated that identifying the specific genetic defect in these patients has a dramatic effect on both the medical management and quality of life of these patients. We thank Chiesi Global Rare Diseases for their generous support.”
Results from the Jeffrey’s Insights global genetic sequencing pilot program published in June 2020 show the utility, cost-efficiency, and critical importance of NGS for PI and make the case for broad scale sequence-based diagnostics for PI patients when requested by expert immunologists. A total of 21 sites within the Jeffrey Modell Centers Network participated in the pilot program that included testing for 158 patients and 29 family members using Invitae's Primary Immunodeficiency Panel. Based on the results of genetic sequencing, clinical diagnosis was altered in 45 percent, disease management was altered in 40 percent, treatment was altered in 36 percent, and genetic counseling was altered in 62 percent of patients.
The Jeffrey’s Insights program has now been offered at no cost to the entire Jeffrey Modell Centers Network. JMF plans to publish additional results as the program progresses.
About The Jeffrey Modell Foundation
Vicki and Fred Modell established the Jeffrey Modell Foundation (JMF) in 1987, in memory of their son Jeffrey, who died at the age of fifteen, from complications of Primary Immunodeficiency (PI) - a genetic condition that is chronic, serious, and often fatal. JMF is a global nonprofit organization dedicated to early diagnosis, meaningful treatments and, ultimately, cures through research, physician education, public awareness, advocacy, patient support, newborn screening and genetic sequencing. For more information visit https://www.info4pi.org/.
About Chiesi Global Rare Diseases
Chiesi Global Rare Diseases is a business unit of the Chiesi Group established in February 2020 and focused on research and development of treatments for rare and ultra-rare disorders. The Global Rare Diseases unit works in collaboration with Chiesi Group to harness the full resources and capabilities of our global network to bring innovative new treatment options to people living with rare diseases, many of whom have limited or no treatments available. The unit is also a dedicated partner with global leaders in patient advocacy, research and patient care. For more information visit www.chiesirarediseases.com.
About Chiesi Group
Based in Parma, Italy, Chiesi is an international research-focused pharmaceuticals and healthcare group with over 85 years' experience, operating in 30 countries with more than 6,000 employees (Chiesi Group). To achieve its mission of improving people's quality of life by acting responsibly towards society and the environment, the Group researches, develops and markets innovative therapeutic solutions in its three focus areas: AIR (products and services that promote respiration, from new-born to adult populations), RARE (treatment for patients with rare and ultra-rare diseases) and CARE (products and services that support specialty care and consumer-facing self-care). The Group's Research and Development centre is based in Parma and works alongside 6 other important research and development hubs in France, the U.S., Canada, China, the UK, and Sweden to pursue its pre-clinical, clinical, and regulatory programmes. In 2018 Chiesi has changed its legal status to a Benefit Corporation, according to the law in Italy, USA and, more recently, in France, by incorporating common benefit objectives into its bylaws, to generate value for its business, for the society and the environment. Since 2019, Chiesi has been the world's largest B Corp certified pharmaceutical group. B Corps are global leaders convinced to leverage business as a force for good. Moreover, as a Benefit Corporation, Chiesi Farmaceutici S.p.A. is required by law to report annually in a transparent way about its progress in achieving the common benefits objectives it has set forward. The Group is committed to becoming carbon neutral by the end of 2035. For more information, please visit www.chiesi.com.
Berry & Company Public Relations