Author Archives: kristin

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

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

FDA approves first ever gene therapy for rare eye disease!


The Curing Retinal Blindness Foundation Joins the Rare Eye Disease Community in Celebrating the First Ever FDA Approved Treatment for Blindness

December 19, 2017 Bucks County, PA – The Curing Retinal Blindness Foundation is proud to be a part of this historic day today as Spark Therapeutics (NASDAQ:ONCE), a fully integrated gene therapy company dedicated to challenging the inevitability of genetic disease, announced that the U.S. Food and Drug Administration (FDA) has approved LUXTURNA™ (voretigene neparvovec-rzyl), a one-time gene therapy product indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. LUXTURNA should only be administered to patients with mutations on both copies of the RPE65 gene who have sufficient viable retinal cells as determined by their treating physicians.

LUXTURNA is the first FDA-approved gene therapy for a genetic disease, the first and only pharmacologic treatment for an inherited retinal disease (IRD) and the first adeno-associated virus (AAV) vector gene therapy approved in the U.S.

“During the more than 12 years of innovative research with dedicated collaborators near and far, I’ve witnessed the dramatic improvement in vision in many patients who would have otherwise lost their sight,” said Jean Bennett, the F.M. Kirby Professor of Ophthalmology in the Perelman School of Medicine at the University of Pennsylvania and Penn’s Scheie Eye Institute. “I believe that the success of the LUXTURNA clinical development program will pave the way for the development of other gene therapies, that may help the millions of patients with genetic diseases who currently have limited or no treatment options.”

“The FDA approval of Luxturna just gave patients living with rare eye disease more than hope – it has given them a concrete example that treating blindness is possible and effective,” said Kristin Smedley, President and Co-Founder of the Curing Retinal Blindness Foundation. “The decades long timeline from basic research to this approval day is proof that hope can indeed carry you a long way.”


About Gene Therapy
Gene therapy is an approach to treat or prevent genetic disease by seeking to augment, replace or suppress one or more mutated genes with functional copies. It addresses the root cause of an inherited disease by enabling the body to produce a protein or proteins necessary to restore health or to stop making a harmful protein or proteins, with the potential of bringing back function in the diseased cells and/or slowing disease progression. To deliver the functional gene into the cell, a vector is used to transport the desired gene and is delivered either intravenously or injected into specific tissue. The goal is to enable, through the one-time administration of gene therapy, a lasting therapeutic effect.

About Spark Therapeutics 
At Spark Therapeutics, a fully integrated company committed to discovering, developing and delivering gene therapies, we challenge the inevitability of genetic diseases, including blindness, hemophilia and neurodegenerative diseases. We have successfully applied our technology in the first FDA-approved gene therapy in the U.S. for a genetic disease, and currently have three programs in clinical trials, including product candidates that have shown promising early results in patients with hemophilia. At Spark, we see the path to a world where no life is limited by genetic disease. For more information, visit

.About Curing Retinal Blindness Foundation (CRBF)

The CRBF is a 501(c)(3) organization dedicated to funding research to promote treatments and cures for CRB1 degenerative retinal disease and connecting patients to resources for living with blindness.  The children in this foundation are blind or visually impaired due to mutations in the CRB1 gene causing a rare genetic disease, a degenerative retinal disease (Leber’s Congenital Amaurosis, Retinitis Pigmentosa, or cone-rod dystrophy) Some of the children have already lost almost 100% of their sight. Many of the children still have some useable vision, but it will deteriorate if nothing is done to stop the degeneration.


Kristin Smedley


HOPE… it’s in our team.

WELCOME to a special blog post from CRBF President and Co-Founder, Kristin Smedley!

Want to know what HOPE looks like?

Hotel Irvine, home of the 2017 Global Genes Patient Summit

Imagine a hotel campus in sunny California where those affected by rare diseases have converged to share, inspire, enlighten and most of all, drive progress.  Lots and lots of progress to solve lots and lots of medical mysteries.  Here, there is more evidence of HOPE in one day than the entire Christmas season boasts.  With every slide deck, speaker’s story, and tweet quoting a presenter, HOPE fills the massive ballrooms and bursts through the doors of breakout rooms. HOPE fills the minds of scientists looking to create treatments for rare patients.  HOPE fills the hearts of funders  looking to help.  Most of all, HOPE fills every nook and cranny of the mind, body, and soul of a Rare Mom like me.


A Rare Mom. A Mom of children with a rare disease.  That’s me.  That’s lots of people here. There’s Rare Dads and Rare Grandmas and Grandpas here.  There are Rare patients and siblings here too.  We have all been given a diagnosis of a rare disease.  Some “lucky” ones have met or heard about other people in the world affected by their disease.  Some are the only ones known on the entire planet to be affected. And for just about every single Rare person here, there is no treatment, no cure, no answer for their rare disease.


But HOPE is abundant here, and so the journey for many Rare families is changing… for the better.


I’m at the Global Genes Rare Patient Summit.  I have been attending this conference for a few years and was so impressively overwhelmed with all the knowledge here that last year I started recruiting members of my Board of Directors to attend with me.  Our non profit, the Curing Retinal Blindness Foundation, is the  only patient organization in the world for our rare eye disease, CRB1 LCA-RP.  That’s not a very big deal here because, after all, most of the organizations represented here are the only of their kind around the globe.


CRBF team members at the Global Genes 2017 Patient Summit

Three of my team members joined me here last year – and we were so energized afterward, and our organization grew on so many levels, that this year there are eight members of our team here.  Eight people for a two day conference – the information is that abundant and more importantly, that valuable.


The theme of the Global Genes organization is “Hope, It’s n My Genes.” The conference attendees wear jeans to promote the “genes” theme. (Side note: I’d be interested to someday have someone count how many times the word “gene” is spoken here!) I don’t know if it’s the casual nature that jeans summon, or if it’s the beautiful California weather that inspires, but here, folks are cooperative not competitive.  They share instead of block information.  They listen.  They teach.  And they hug… my God is there a lot of hugging here! OK so I admit I’m one of the huggers, I just can’t help myself! I mean, when you meet a scientist that is dedicating his/her life to figuring out a rare disease, a disease they have no relation to,  can you really just shake their hand?  Or if you meet a Mom raising a rare kiddo just like you are and they get it… they really, really get it… is a high five gonna do that justice? As I attend each year I am hugging people I actually know moreso than complete strangers.  It’s not that I am holding back on giving someone I don’t know a big ol’ thank you bear hug, it’s just that many of the folks I have met here have become my friends. Close friends that know my journey, my hopes, my successes  and my epic fails.  And I know theirs.


And what happens when so much information is shared and so many relationships created?  Some might go into overwhelm and lose focus.  My team, however, spends a day locked up in a room to review every session note, every slide, every bit of information, every business card.  We compile all the notes and create our focus plan for the next year.  If you have followed our progress since we have been involved with the summit, you’ll understand just how much of an impact it has on our work.


I know how Rare it is to have two children affected by a rare eye disease.  I know how Rare it is  to have found hundreds of people that can help my work for this disease.  Above all, I know how very blessed I am to have the team that I have by my side, walking this journey from darkness to light, together.  Here at the Global Genes Patient Summit, teams like mine are not Rare… they are plenty.  And they, like my team, are moving mountains for rare diseases.


Kristin Smedley is President and Co-Founder of CRBF. She is also an author and TEDx speaker.  She originally planned to be a third grade teacher… and then two of her three children were diagnosed as blind.  In addition to growing the CRBF to reach patients and scientists around the globe, Kristin also shares her journey of raising her kids to not just survive challenges, but to thrive!  She speaks about blindness and resilience, and she just launched her new series teaching people to SEE: Set Extraordinary Expectations!  Watch her TEDx talk here and get info regarding her new book here.  If you are interested to have Kristin speak at your upcoming event, email her at or contact her here!


RARE BLAB 02: Social Media 4 Rare Disease Missions

RARE BLAB is hosted by Kristin Smedley, President and Co-Founder of the Curing Retinal Blindness Foundation.  Rare Blab is broadcast on the platform with a goal of connecting rare disease mission leaders to resources to further rare missions!  If there is a topic you’d like to see covered on RARE BLAB or if you are interested in being a guest, please send an email to  Connect with Kristin on Twitter @KristinSmedley


rare blab header

The second episode of RARE BLAB was a great social conversation about using social media to expand rare disease missions! Kristin was honored to chat with

Stephanie Fischer, @RarePOV, Every Life Foundation and 

Emma Rooney, @BlumenCasey, My Normal (Storytelling for Rare Diseases)




WATCH and scroll down for links and notes mentioned in the Blab!


The Basics: Slides from Stephanie’s breakout session on social media at Rare Disease Week on Capitol Hill can be found at

Hashtags Tweetchats/Conferences: Symplur Healthcare Hashtag Project lists tweetchats and conferences. You can easily register a new hashtag here, too. It is free to join.

Storify:  enables you to tell a story with tweets from a tweetchat, conference or hearing, or based on a hashtag. It is free to join.

Rare Disease Advocate to Follow on Twitter@SavingCase – an advocate witht he incredible  #ProjectAlive #WhenIGrowUp campaign with video

Twitter Tips: #TwitterSmarter Tweet Chat and podcast with Madalyn Sklar – Madalyn is a top Twitter influencer and this tweet chat is huge.  Tons of Twitter tips every week, Thursdays 1pm Eastern on Twitter (mentioned at the 32:15 mark)


Global Genes toolkits for rare disease:

How to Promote Your Rare Disease Story through Social Media:

Storytelling for your rare disease

Global Genes Rare Disease Patient Summit: September 22-23 Huntington Beach, CA


Video Storytelling: Kristin’s new Facebook community Thriving Blind uses lots of video to share tips and resources for living with the rare disease her boys have, CRB1 degenerative retinal disease

Facebook Live: A new feature from Facebook that gives people a huge reach.  This is a great post about doing your first Facebook live broadcast from a top influencer, Kim Garst.  It is geared toward reaching/gaining “customers”, so think of your rare patients, supporters, etc as your “customer” audience.

Rare Disease Mission Pages: Follow these rare disease mission Facebook pages on to see how they utilize Facebook to spread awareness. Curing Retinal Blindness Foundation   Every Life Foundation for Rare Diseases


Social Media Influencers in Rare Disease: The World Orphan Drug Congress released a list of top social media influencers in rare disease in 2013 and updated it last year.

– Original:

– Update: