View this email in your browser

Dear <<First Name>>,

Can you believe February is almost over? And with it, Rare Disease Day (or Month) is over, too. Well, not for us….

February 28th is Rare Disease Day. But for us, it's every day.

In this edition of the newsletter, we share with you an update on fundraising, additions to patient resources, and our impact around rare disease day/month.

First, it's time to celebrate and spread the love!

THANK YOU to all our supporters who turn HOPE into ACTION. You have made it possible to fund the mouse project. We could not have done this without each and every one of you. Special thanks to several families worldwide who stepped up and fundraised. Amazing work! Together, we have exceeded the $150,000 fundraising goal and can now proceed with the project!!!

The achievement of the fundraising goal is a great first step toward enabling therapy development. It demonstrates that together, we are turning HOPE into ACTION. We are not waiting. As we forge ahead, we are already working on more research tools and infrastructure that are necessary for the development of various therapeutic approaches. We are looking forward to a very exciting and productive year for the SDS community!

Second, this was just the beginning!

Shwachman-Diamond Syndrome (SDS) research needs your help! Thanks to you, we have successfully launched the mouse model project last year.

We are now shifting gears to expand the toolbox for SDS research. We need your support to drive the progress!

"What tools do we need?" you may ask. This year, we will focus on building:

• a tissue bank of patient-derived cells, such as iPSCs, accessible to researchers anywhere in the world;

• a collaborative data platform, accessible to researchers anywhere in the world, while protecting patients' privacy, and

• the groundwork for new therapy approaches not currently applied to SDS.

These new tools — along with the mouse model — will enable and greatly accelerate the development of new SDS therapies.

100% of your donation will go into an account that is solely dedicated to research and therapy development. We will continue to leverage your support — through government and foundation grants. Your donation of $150k last year has turned into nearly a million dollars to power SDS research.

Our kids' bright future is in our hands. Let's turn hope into action! Please donate and fundraise!

Available on our fundraising platform at https://secure.givelively.org/donate/shwachman-diamond-syndrome-alliance-inc/turn-hope-into-action-expand-the-toolbox and on Facebook at https://www.facebook.com/SDSAlliance/posts/484786896444272

New SDS & Science Snapshots Blog

New resource alert! Would you like to stay on top of all the science and policy progress, as relevant to SDS? We launched a weekly blog to help you with just that! Check out the first and second issues of the new SDS & Science Snapshots blog, today!

They are available on our website at https://www.sdsalliance.org/sds-science-news (you can subscribe right from the blog post), and we are posting reminders of Facebook, Twitter, and other channels, too. In the first issue, we introduce the concept of biomarkers, highlight a Lanced Editorial on some noteworthy advocacy progress, and provide you with an overview of PubMed. In the second issue, we cover Ribosomes in Mitochondria; Rare Disease Day/Month; Diagnostic Odyssey and what we are doing about it.

New: Kids-Corner, Family, and Adult Patient Resources

We have revamped our family resource pages. Our website now features a dedicated page for Parents & caregivers, a brand new page for children (a.k.a. Kids Corner), and a separate page for adult patients. Check them out under the “For Patients and Families” tab on our website at https://www.sdsalliance.org/patients-families.

And just in time for Rare Disease Day, we got help from Ribo & Somi, the ribosome superheroes. They are our new mascots, with the mission to #CureSDS, and teach the kids in our community about SDS science and advocacy in a fun and approachable way. Check out their new downloadable 2022 coloring calendar. Learn more at https://www.sdsalliance.org/post/introducing-ribo-somi

Rare Disease Day/Month Activities with Impact

We participated in TWO live (well, virtual) events this February, and ONE cool project behind the scene.

First, Eszter Hars, Ph.D. and her daughter (age 7) joined a class at Vanderbilt University for science majors about translational curative research for genetic disorders to share details about Shwachman Diamond Syndrome, opportunities and needs for therapy development, and insights into the lived experience through the lens of a patient and her mother. The students asked wonderful questions, and we got connected with a student who will write a term paper on SDS. We can’t wait to see how the next generation of researchers approaches disorders like SDS.

Later in February, Dr. Hars had the distinct honor of joining the Nationwide Children’s Hospital Rare Disease Day event as part of the patient panel. Not only did she raise awareness about SDS, but also discuss the critical importance of patient engagement and community. It is so important for patients to receive peer support, education, and resources; it also gives patients the opportunity to turn hope into action and participate in research, be it by fundraising, donating data and “real world evidence”, or even by participating in clinical trials.

And last but not least, we are continuing to make progress on our efforts to shorten the diagnostic odyssey for SDS patients and the rare disease community. And how are we approaching this? With SDS being very rare, our strategy is to "ENABLE ACCIDENTAL DIAGNOSES". That is, instead of educating a handful of specialists about SDS only, we are investing into

• making sure SDS genes (in particular SBDS) is covered on as many diagnostic panels as possible, so that doctors can stumble upon SDS even if they don't think of specifically testing for it

• educating current hematology, immunology, and GI specialist about rare genetic disorders in general, including SDS, and

• changing how the next generation of doctors think about rare disease. You may have heard the saying: when you hear hoofbeats, think horses, not zebras. We need the medical community to be aware and consider zebras sooner and more widely, once they rule out horses. This will be a win-win for everyone involved. And this is where we are investing resources right now.

More information on these initiatives coming soon.

If you or your loved one already suspect SDS and needs help accessing diagnostic tools and providers, please reach out to us. We have identified resources anywhere in the world to help you with specialists and financial support, if needed. Email us at connect@SDSAlliance.org

Our timeless SDS & Rare Disease Day video from 2020, filmed just before the pandemic broke lose. Feeling kind of nostalgic. https://youtu.be/Cf3cKPLHeJI

A recap from the previous edition of the newsletter:

SDS Alliance Awarded Chan Zuckerberg Initiative “Rare As One” Grant

We are so thrilled to share with you that the SDS Alliance has been awarded a prestigious “Rare As One” grant for $600,000 from the Chan Zuckerberg Initiative (CZI), out of more than 200 applicants!

Read the press release on our blog, here.

We wouldn’t have won this grant award without our community’s support for our research initiatives. This grant demonstrates that with proper management and expertise, your donation can be leveraged to create significantly more impact than the face value of your donation would allow. Research and therapy development is a very expensive endeavor, and we absolutely need to use your hard-earned money wisely and leverage your donation whenever possible.

Let’s continue to turn hope into action and action into results! The future is bright!

And in case you are new to the community or missed what we are all about:

Research Strategy and Roadmap

Have you ever wondered how the mouse model fits into the SDS therapy & cure development roadmap? Here is a little graphic to put the mouse model project into context. For an overview of our research strategy and details about our roadmap to SDS therapies and cures, please visit our website at https://www.sdsalliance.org/strategy-roadmap

Quick video about our mission and vision