Global Genes forges rare-disease support network partnership

By Jenni Spinner

- Last updated on GMT

(FamVeld/iStock via Getty Images Plus)
(FamVeld/iStock via Getty Images Plus)

Related tags Patient centricity Clinical trials Rare disease Orphan drug Disease

The rare-disease organization will work with Rady Children’s Institute for Genomic Medicine to help patients and their families connect with solutions

Global Genes will work with Rady Children’s Institute for Genomic Medicine (RCIGM) to develop a support network designed to help patients and families dealing with gene-based rare diseases. The collaboration aims to help shorten the path to accurate diagnoses, and reduce the gap in service and support for such diseases.

According to Global Genes, about 80% of rare diseases have known identified genetic origins, with many caused by defects in a single gene; approximately 50% of rare disease affect children, and 30% of children diagnosed with rare diseases succumb before reaching the age of 5.

Christian Rubio, vice president of strategic advancement for Global Genes, told Outsourcing-Pharma, “From a drug development standpoint, rare diseases represent nearly half of the global drug and therapeutic development pipeline and roughly half of FDA IND approvals​.”

Rubio pointed out that the definition of what constitutes a rare disease can vary by region. For example, according to the National Institutes of Health, a rare disease is defined as a condition that affects fewer than 200,000 people in the US, a definition formed by Congress via the Orphan Drug Act of 1983. In the European Union, a disease is considered rare when it impacts fewer than 1 in 2,000 people.

Researchers with RCIGM reportedly have (through its Project Baby Bear initiative) diagnosed 35 rare conditions occurring in fewer than one in 1m births.

RCIGM reportedly has shown that access to rapid Whole Genome Sequencing (rWGS®) can shorten the time required to diagnose conditions in newborns. What’s more, the organization’s research shows that use of rWGS can cut healthcare costs by empowering doctors to cut out unnecessary procedures and shorten a patient’s time in the hospital.

rWGS reads a patient's entire genetic makeup and can pinpoint an error or genetic variation that is the cause of the child's medical condition​,” Rubio explained. “Receiving a rapid diagnosis puts an end to the diagnostic odyssey eliminating the need for further testing, invasive procedures, and surgeries​.”

RCIGM provides medical teams with genomic information, which can be used to solve puzzling diagnoses and improve outcomes for pediatric patients. The organization serves a network of more than 40 children’s hospitals across the US.

In addition to providing families of kids with rare and genetic disorders, Rubio said, support networks can help them feel understood, better process options and be more prepared for what comes next.

“We often hear from families that just knowing what is happening to their child or to them is the first big step beyond the dark fog of not knowing. It’s at that point that hope is born​,” he told us.

Support networks help people turn that hope into a plan; with a plan, patients and caregivers begin the process of gaining control of their future; whether it’s developing a nutritional plan, gathering their data to participate in clinical research, or simply connecting with other families around shared experiences to improve their quality of life​,” Rubio added. “Ultimately, connected, supported patients and caregivers form the collective voice to champion access to and development of new treatments​.”

Stephen Kingsmore, president and CEO of RCIGM, said these services offer hope to patients and their families.

When it comes to finding answers and support, we recognize that patient families face many challenges​,” he said. “That’s why we are delighted to team up with Global Genes to help connect the rare disease community with information on genomic medicine support services to break down barriers to diagnosis.​”

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