Rare and orphan conditions take center stage during webinar

By Jenni Spinner

- Last updated on GMT

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

Related tags Rare disease orphan disease Genetics Patient centricity patient engagement hereditary

During OSP’s exclusive February 23 webinar Rare and Orphan Diseases, leading expertswill lend their unique experience and expertise to the important topic.

To the untrained eye, a rare disease might not appear to have much of an impact, relatively speaking. A disease is only considered rare if it affects about one out of thousands of people, after all.

The reality is that rare diseases collectively affect the lives of millions around the globe—in the US alone, the National Institutes of Health (NIH) estimates up to 30m people are dealing with a rare-disease diagnosis. Factor in the families and loved ones of rare-disease patients and the impact such diagnoses have on their lives, and the reach of rare disease becomes much wider.

Rare diseases are not just a huge concern to patients and their families. The pharmaceutical industry is keenly interested in discovering treatments for the conditions that affect these very special patients. However, successfully developing rare-disease therapies requires an understanding of not just the diseases themselves, but also the challenges the disease creates for patients in participating in clinical trials, among other things.

On February 23, during our Rare and Orphan Diseases webinar, ​the Outsourcing-Pharma team is hosting a trio of knowledgeable, well-respected figures in the field of rare-disease research, treatment, and advocacy. We are honored that these experts have agreed to take time out of their busy schedules to share their wisdom and experience with us, and with our audience.

Gunnar Esiason, executive vice president, strategy and advocacy, Boomer Esiason Foundation

Gunnar Esiason, executive VP of strategy and advocacy, Boomer Esiason Foundation

Diagnosed with cystic fibrosis as a small child in 1993, Esiason has since become a committed CF and rare-disease patient leader, focusing on elevating early-stage drug development, empowering patients, and influencing health policy. His work includes consulting on the development of clinical trials, real-world evidence (RWE) population health study, and a CF-centered mental health and wellness screening tool.

In addition, Esiason has built a venture philanthropy practice at the Boomer Esiason Foundation. He has been the outward face of fundraising efforts for the organization, which has raised more than $160m USD for the fight against CF.

Craig Martin, CEO, Global Genes

Craig Martin, CEO, Global Genes

A rare disease diagnosis can feel overwhelming, confusing, and lonely. The mission of Global Genes is to connect people living with rare conditions, and their families, with valuable resources, and each other.

As CEO of the organization, Martin works to help organizations that are working on innovative technologies or facing disruptive changes. He holds more than 25 years of experience across biotech, health tech, digital health, healthcare, and wellness markets.

John A Phillips, David T Karzon Professor of Pediatrics, Vanderbilt University Medical Center

John A Phillips, David T Karzon Professor of Pediatrics, Vanderbilt University Medical Center

This renowned clinical, biochemical, and molecular geneticist served as director of the TN State Genetics Center at Vanderbilt for 33 years. In that role, Phillips has diagnosed, treated, and cared for many children and adults with many genetic diseases, including congenital malformations, chromosomal, Mendelian, and metabolic disorders.

In addition to working to treat ultra-rare disease patients, he also is principal investigator (PI) on clinical trials to treat achondroplasia, argininemia, fatty-acid oxidative disorders, homocystinuria, and PKU. He contributes to the efforts of the Division of Medical Genetics and Genomic Medicine at VUMC, which sees more than 4000 genetic cases annually and is co-PI of the Vanderbilt Center for Undiagnosed Diseases, part of the NIH Undiagnosed Disease Network.

Rare and Orphan Diseases takes place online on February 23, 10 am CST​. Sign up now and learn from these impressive experts; registration is free, and the event will be archived online afterward.

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