Category Archives: BLOG

Patients Now Have An Opportunity To Drive CRB1 Research and Advocacy

The latest development in moving research forward for CRB1 LCA/RP retinal disease involves a collaborative effort between the CRBF, Sanford Research, and best of all… patients!  The CRB1 patient registry is an opportunity for patients to help drive research and advocacy for this rare eye disease.  Here’s a short overview (with links to more in depth resources) to better understand the need and value in a patient registry.

What is a patient registry?

From the National Institutes of Health: A registry is a collection of information about individuals, usually focused around a specific diagnosis or condition. Many registries collect information about people who have a specific disease or condition, while others seek participants of varying health status who may be willing to participate in research about a particular disease. Individuals provide information about themselves to these registries on a voluntary basis. For more info from the NIH regarding registries visit here.

Why is a registry important?

Visit the National Organization for Rare Disorders (NORD) website (link here) to see an interview with Medscape and Marshall L. Summar, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C. and NORD board member, where Dr. Summer discusses the importance of patient registries for rare diseases.

From the NORD website: According to Dr. Summar, registries can accelerate the process of treatment and help physicians address the big knowledge gap about what happens in the day-to-day lives of patients.  By better understanding what is happening with rare disease patients, “we can develop better therapies by understanding conditions and the long-term consequences of rare disease.”

Is there anything in addition to research for treatments that a registry can be useful for?

The CRBF is also using the CoRDS registry to collect data regarding living with this rare eye disease, specifically whether the patient is a Braille, large print, or regular print reader.  This information will help  families, educators, etc  advocate for services for younger CRB1 LCA/RP patients so they are equipped with the necessary tools to thrive in educational settings.

How can CRB1 LCA/RP patients enroll in the registry?

If you or a family member received a diagnosis of CRB1 retinal disease diagnosis, please visit the CoRDS page for CRB1 here and click Enroll Now.

The CRBF is proud to partner with Sanford Research and CRB1 patient families in this exciting step in our journey toward treatemtns and resources for this inherited retinal disease. For questions regarding participation int he CRB1 LCA/RP registry please send an email to curingretinalblindness@gmail.com

Three women standing at the Life Sciences PA Pavillion sign.

CRBF at BIO International Convention 2019!

“Wow.” That’s pretty much the word first time attendees at BIO’s annual convention use, a lot. With over 17,000 people from 49 states and 67 countries in attendance, and expo booths bigger and more plentiful than you can likely imagine, “wow” is what the convention does. 

The BIO International Convention is hosted by Biotechnology Innovation Organization (BIO).  BIO represents more than 1,100 biotechnology companies, academic institutions, biotechnology centers and related organizations across the United States and in more than thirty other nations.

This year, the massive convention was held in Philadelphia, home of CRBF President, Kristin Smedley. Kristin documented her attendance to give you an up close look at the convention and a bit of a window into how the CRBF networks to advance our mission.

First, the fun part of the convention: the Expo Center!  Kristin’s says, “It.  Was.  Massive.”  You have likely been to an expo style event before with booths big and small, right?  The BIO Expo Center was filled with massive structures representing every country!  Some were so big they had a stage in the “booth” for presentations.  Others had configurations of couches, tables, and chairs for meetings.  Many had snack bars and drink buffets.  And much to Kristin’s delight, many had coffee stations!

Since Pennsylvania was the host of the convention, Life Sciences PA, the only life sciences trade association in Pennsylvania, hosted one of the biggest “pavilions” in the Expo Center.  In the picture you can see the massive space full of functional meeting areas for people to get together.  Kristin held several meetings there and it ended up being her “base camp” to meet up with rare disease advocacy colleagues from all over the country.

LArge Pennsylvania signs hanging from high ceiling. Tables and chairs and people milling around.
Life Sciences PA’s Pennsylvania Pavillion at #BIO2019

One of the most informative meetings Kristin held at that pavilion was with Advanta, a life sciences branding and marketing company.  Kristin was captivated by Advanta’s knowledge of the life sciences work and passion to help companies and organizations build a brand and tell their story effectively to spread their missions more efficiently.  Kristin and Steph (Advanta’s CEO) talked at length about using things like websites, media and literature to effectively spread a mission.  Stay tuned for more on this meeting.

The biggest opportunity Kristin had while at the Life Sciences PA pavilion was only about  3 minutes long.  Kristin got to meet and chat with the Governor of Pennsylvania, Tom Wolf.  Kristin reports that that 3 minutes of incredible face time with the Governor was a testament to the power of being a part of an extraordinary organization.  Imagine the scene: hundreds of people are in and around the pavilion when the Governor walks in with his staff, security, photographers, etc.  A swarm of people gather as the CEO of Life Sciences PA welcomes him and they start chatting.  Tons of people from the industry want a few minutes with the Governor.  Many of them got that time. 

But an interesting thing happened.  You see, there is a lot of talk in this field about all of the work being “about the patient.” But so many times the patient is left out of pretty much everything.  Things are getting better, and there are organizations and companies that are models of true patient centered work.  Life Sciences PA is one of those organizations.  CEO Chris Molineux saw Kristin Smedley standing in the crowd trying to get a minute with the Governor.  He politely steered a few folks away and announced that while he was so proud of all the work being done in Pennsylvania, it is nothing without the patients we serve.  Then, he introduced the Governor to Kristin, and she had a great conversation with him, thanking him for what is going well in PA in terms of the education of blind children.  She then offered to talk with him at a later time about where she sees the need for a few improvements.  The Governor was quite interested to learn more.  Stay tuned for that follow up meeting.

PA Governor Tom Wolf talking with CRBF President Kristin Smedley

There were thousands of presentations, meet ups and connections at BIO 2019 and CRBF was involved in a lot of them.  You’ll be seeing the impact of this convention on our work in the coming months.  It was an extraordinary opportunity to be there and connect our mission to those that can help us grow.

If you would like to discuss ways to help our mission grow in research, fundraising, advocacy or outreach to the CRB1 patients, please send an email to connect@crb1.org

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