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We're bringing the benefits of genetic research to those who need it the most.

RARE GENOMICS NEWSLETTER

February 2023

Stay updated on the latest services, collaborations, and opportunities we have. At the same time, we'll share ways you can help us advocate for the needs of rare disease families. With your input and support, we can find new ways to do more!

Think you know about RG and Rare Diseases? Prove it

Try RG Trivia! Answers are included at the bottom of this newsletter.

*Hint: follow RG on social media to stay up to date on RG news

1. What type of sequencing can detect 200,000 more single- nucleotide variants than short-read sequencing

(a) Long-read Sequencing

(b) HiFi Sequencing

(d) HiFice Sequencing

2. When is Rare Disease Day 2023?

(a) February 8th

(b) February 18th

(d) March 8th

3. Which is a regular feature of RG's social media posts?

(a) Superstar Sunday

(b) Magnificent Monday

(d) Fundraiser Friday

Rare Disease Day

In 2008 EURORDIS, with the Council of National Alliances, launched the first Rare Disease Day on February 29th. The date was significant because it the rarest day on the calendar. The first year saw people participating from 18 countries, exclusively in Europe.

The next year, participation jumped to people in 30 different countries and regions. In just its second year, Rare Disease Day spread out of Europe, and into the United States, Australia, China, and many other countries.

Today, Rare Disease Day is a worldwide phenomenon. This year, 1400+ organizations in more than 100 countries and regions have operated over 600 unique events in celebration and support of the estimated 300 million individuals living with rare diseases worldwide.

Learn More

2023 Informa Connect Rare Disease

Innovation and Partnering Summit

The 2023 Informa Connect Rare Disease Innovation and Partnering Summit is held this year between March 21st-23rd. 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 "Overcome Investment Challenges in the Rare Disease Space" presented by Rare Genomics co- founder and Sudo BioSciences CBO Dr. Imran Barbar, and "Identifying Rare Disease Patients-Finding a Needle in a Haystack," featuring speakers from The Janssen Pharmaceutical Companies of Johnson and Johnson."

Sometimes it's a Zebra

Understanding the Top Three Challenges in Rare Disease Treatment and Advocating for Change

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.

Just how rare is rare? Although considered individually rare, there are approximately 7,000 rare (often called “orphan”) diseases that collectively affect 25–30 million Americans and more than 400 million people worldwide, according to the National Institutes of Health (NIH). To put this in perspective, about one in ten people in the U.S. have a rare disease. For instance, if you were in a very crowded elevator, it would be likely that one person on that elevator would have a rare disease. In fact, it is very likely that you know someone with a rare disease, although you may not know it.

Illinois Institute of Technology

Rare Disease Study Survey

The purpose of this study is to gather information regarding your experience being a parent/caregiver of a child or children with a diagnosed or undiagnosed medical condition/s. If you choose to participate in this study, you will be asked to complete an online survey. It is estimated that this survey can be completed in approximately 30 - 45 minutes. At the end of this survey, you will have the choice to be routed to a separate survey where you can opt in for any of the following:

1) Enter a raffle to win an Amazon e-gift card,

2) Indicate interest in being contacted for future research about families who have children with diagnosed/undiagnosed medical conditions and/or,

3) Receive a summary of the study findings upon completion.

Names and emails collected will not be connected in any way with your responses. Furthermore, these emails will be saved in password protected lab computers and be used only for the purposes you selected.

Learn More About this Survey

RG’s dedicated and talented volunteers deliver remarkable results for families in need of genetic sequencing services. We come from diverse backgrounds but work as a team to help people directly. We love what we do and we’re always looking for professional teammates. To learn a bit more about who we are and why we volunteer, watch the video above.

Answers:
1. (b)
2. (c)
3. (a)

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