CRBF Work Is Featured During Rare Disease Week

Welcome to Rare Disease Week! This is a special week where rare disease advocates around the world work toward raising awareness and tackling issues surrounding rare diseases. CRBF will be in Washington, DC and at the National Institutes of Health in Bethesda, Maryland participating in the Rare Disease Day activities.

 

 

At the heart of the week is National Rare Eye Disease Awareness Day: Wednesday, February 28th.  Follow along with us here and on our Facebook, Twitter, and LinkedIn pages as we bring you the awareness activities CRBF is involved in to further our great work.  SPOILER ALERT: Rare Eye Disease AND CRBF will be featured on the biggest Rare Disease Day stage this week!  We’ll post more on that this week!

 

First up for this week:

CRBF President Kristin Smedley is featured in the prestigious Rare Daily, an online publication of Global Genes. Global Genes®  is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon®. What began as a grassroots movement in 2009 , with just a few rare disease parent advocates and foundations , has since grown to over 500 global organizations.   Click to read Kristin’s interview with Rare Daily.

 

Stay tuned for more on Rare Disease Week and National Rare Eye Disease Awareness Day!

 

FDA approves first ever gene therapy for rare eye disease!

FOR IMMEDIATE RELEASE: 

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 www.sparktx.com

.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.

FOR MORE INFORMATION CONTACT:

Kristin Smedley

curingretinalblindness@gmail.com

267.566.9068

www.crb1.org

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 curingretinalblindness@gmail.com or contact her here!

 

Our Achievements and the Up and Coming

We have come so far and achieved so much, but what we are so very proud of is our brand new partnership with Inspire! Inspire is the leading social network for health, which connects patients and caregivers in a safe permission-based manner. Curing Retinal Blindness Foundation is now the retinal blindness community connection on Inspire’s platform! With one one leader per health arena, this is a big achievement for us. We are the go-to for retinal blindness, reaching out to any who are in need.

“Together we are better”

By having connections across the world 24 hours a day, seven days a week, members are able to obtain resources and the support they need regardless of location, background, or status. Feelings of isolation are extinguished, and this patient-centric platform is able to welcome you with experience.

 

Mutated CRB1 in human induced pluripotent stem cell derived retinal organoidsEberhard Karls University TuebingenInstitute of NeuroanatomyStefan Liebau & Marius UeffingEstablishing 3-DimensioAround the Corner

Curing Retinal Blindness Foundation isn’t stopping there, we are catapulting forward towards even more fundraisers, events, and partnerships! We want you to join us. Don’t hesitate and contact us today or sign up right now.

  • Cocktails for the Cure
    March 31, 2017 – As the name suggests, this annual event allows guests to indulge in cocktails to achieve a cure for CRB1 retinal disease. With speakers, dancing, live music, and much more, this event is surely one you won’t want to miss. Cocktails for the Cure will be happening at Spring Mill Manor with VIP Hour (special ticket/event sponsorship required) from 6:30-7:30PM and the Main event from 7:30-11PM.
  • TED event: Stanford MEDx-ED
    April 21, 2017 – Kristin Smedley is presenting yet another wonderful TED event, representing rare eye diseases on a rare disease panel.
  • Million Dollar Bike Ride for Rare Diseases
    Funded through our partnership with Penn Medicine, all proceeds of this event go towards life saving rare disease research.

At Curing Retinal Blindness Foundation, we are going to stop at nothing in finding treatments or a cure for retinal blindness. With your help and support, we have come this far, but we are going farther, and we want you with us. Contact us today, donate, add our events to your schedule, and go forward with us!  

 

Perceptions of Blindness: TEDxLincolnSquare Event in New York City

On March 28th, award-winning nonprofit leader, rare eye disease advocate, up and coming author, and mother, Kristin Smedley, will be speaking in New York City at a TEDxLincolnSquare Event. Her focus will be on perceptions of blindness and “How I Learned to See Through the Eyes of My Sons”. It will be both live-streamed from and shared at the intimate and charming Triad Theater, along with other live speakers, two recorded TED Talks, and live music performances. This is not an event you want to miss! See details below.

TEDxLincolnSquare: Risk Takers and Change Makers
March 28th 10AM-4PM
Triad Theater: 158 West 72nd Street, NYC, NY 10023   

Kristin Smedley, co-founder and president of Curing Retinal Blindness Foundation, will be exploring what many others face in today’s society. How do we perceive blindness today–where do our expectations lie? From her standpoint, we need to raise the bar; we need to start believing in vitality.  

A mother of three, two of her children were diagnosed as blind. She toiled through crushed expectations, thinking that everything she had hoped for her two sons was now for naught because they were blind. But as she went on, she derived hope that shifted her expectations of what might still be possible. Erik Weihenmeyer climbed Mount Everest without sight, why couldn’t her sons go on to achieve great heights as well?

What it came down to was perception. The blind have lower expectations, but that doesn’t mean that’s all they are capable of. Through their journey, Kristin’s boys were able to advance in a world that is visually-inclined, defeating the stigma of low expectation that surrounds them. They face their challenge equally, sighted or unsighted, in order to achieve their dreams and pursue their passions.  

 

Thriving Blind: The Book  

On the same topic as her TEDxLincolnSquare talk, Kristin Smedley’s new book is also scheduled to be available for pre-order on the same day. “Thriving Blind” explores the concept that those with sight have no idea what the blind are capable of, leading to a life of dependence, underachievement, and low expectations. Her book serves as a lesson and as an inspiration, telling stories about the journeys that some have gone through to get to where they are.

 

Please tune in to the TEDx event as we raise awareness for CRB1 retinal disease alongside of Curing Retinal Blindness Foundation!

 

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