All the latest news from the team at Rare Genomics Institute including patient success stories, research, events and more.
Living with a rare disease—or caring for someone who does—comes with unique emotional and mental health challenges. Feelings of isolation, anxiety, and uncertainty about the future are common. However, support is available. This blog will explore the emotional impact of rare diseases, coping strategies, and resources for mental health support.
Read MoreGenetic testing can be a powerful tool for diagnosing rare diseases, understanding hereditary risks, and guiding treatment decisions. However, for many patients and families, the process can seem overwhelming or confusing. This blog will break down what genetic testing is, the different types available, how to access testing, and what to do with the results.
Read MoreThe 2024 Informa Connect Rare Disease Innovation and Partnering Summit is held this year between March 19th-21st. The summit will be a space that brings together organizations focused on rare diseases and orphan drug development with patient advocates, patient support/services, market access, and technological development. The summit is an opportunity to be exposed to new information and resources, discuss important issues and their solutions, and hear from patient’s voices that are driving drug discovery in the rare disease realm.
If you're also looking to connect with industry representatives, nonprofits, patients, and vendors, the summit will be a chance to help improve the quality of life for members in the rare disease community through education and advocacy. Held in Philadelphia, the summit will also host relevant experts and multidisciplinary stakeholders, including the FDA, Rare Revolution, Cornerstone Pharmaceuticals, and more. Key topics will be covered, including "Rapid Fire Case Studies Directly from the Thought Leaders Innovating in the Rare Disease Space" presented by Rare Genomics co- founder and Sudo BioSciences CBO Dr. Imran Barbar, and "Combatting Mental Health Challenges within Rare Disease," featuring founder and CEO of Angel Aid, Cristol Barrett O’Loughlin.
Register for the conference here: https://informaconnect.com/rare-disease-summit/pricing/
In medical school many doctors are taught the old saying “when you hear hoof beats, think horses, not zebras”, which means that doctors should generally consider the most likely possibility first when thinking of a diagnosis.
But what do you do when it is a zebra?
What makes a disease rare? In the United States, the Orphan Drug Act defines a disease as rare if it affects fewer than 200,000 Americans or less than one in 2,000 people. A disease is considered ultra-rare if it affects less than one in 50,000 people.
Read MoreDid you know?
An estimated 250 million people worldwide are suffering from a rare disease.
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Strength in numbers
Our research sites include top universities and research institutes across the country.
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