Grant Recipient

We are so excited to share with you that Martha Neuringer’s program at OHSU Casey Eye Institute is the recipient of Save Sight Now’s 2019 Grant. The $285,000 grant will continue funding the development of genetic engineering tools needed to create a Non-Human Primate (NHP) model of an inherited retinal disease. This program seeks to create an accurate model of Usher Syndrome Type 1B in non-human primates, confirm how closely it resembles the human disease, and use the model to test a new type of Dual-AAV gene therapy. 

Our grant will help sustain this program for up to three years; and it’s because of the support and generosity of our 1,105 donors. Their donations will translate into significant impact helping thousands of Usher Syndrome children and adults who are rapidly losing their vision. The innovative gene editing work being created and tested in this program will also have far-reaching impact that goes beyond Usher Syndrome and other retinal disorders.

“This project achieves both the creation of a necessary accurate animal model of USH1B using gene editing tools AND supports a new large gene therapeutic approach for treating a disease.”

Martha Neuringer Ph.D. and Shannon Boye Ph.D.

Why This Program Is So Significant

The Foundation Fighting Blindness Scientific Advisory Board highly recommended supporting Dr. Neuringer and her team to generate an Usher 1B animal model, noting that “successful production of an NHP (Non-Human Primate) model of USH1B with a retinal disorder will immediately trigger more Usher Syndrome studies aimed at correcting the disease.” It is important to note that while the goal of this project is to generate an accurate animal model for Usher Syndrome, the project also plans on testing Dr. Shannon Boye’s dual-AAV gene therapy strategy. This project achieves both the creation of a necessary accurate animal model of USH1B using gene editing tools AND supports a new large gene therapeutic approach for treating a disease.

genetically targeting Ush1B’s two major hurdles:

1. There is no accurate animal model for testing USH1B treatments

   Currently it is only possible to test the safety and delivery of USH1B treatments in animal models, but not the effectiveness of the treatment as it relates to humans. Myosin VIIa – the gene responsible for causing USH1B in humans doesn’t play the same functional role within the retina of any known animals except primates. However, Usher Syndrome is not a naturally occurring disorder within primates. So, Martha Neuringer’s team at OHSU is using a CRISPR gene editing technique to alter the Myosin VIIa gene in primate embryos in order to create an animal model that accurately expresses the Usher Syndrome 1B phenotype (symptoms) from birth.
   

2. An USH1B genetic treatment has no delivery system

   In order to deliver a corrected gene (“treatment package”) you need a delivery system that is effective at infecting cells – like a virus, but without its pathogenicity. USH1B is a large gene – too large to deliver using the current gold standard and only proven gene augmentation delivery system approved by the FDA - a Single-AAV (adeno-associated virus). Dr. Boye’s strategy uses a new Dual-AAV delivery system which attempts to solve the size issue by splitting the gene in two parts and delivering them separately. The two halves then reconstitute within the retina to form a whole properly functioning gene.

Overview
Proven system / ush1b problems / Proposed Solution

Medical Impact Beyond Usher Syndrome

Myosin VIIa - the gene associated with Usher Syndrome Type 1B has two major gene editing hurdles that are relevant to other ocular genetic diseases and beyond: it’s too large for current gene editing tools and there is no existing ideal animal model that accurately expresses the disease phenotype for testing pre-clinical treatments . Many other Usher Syndrome types like USH2A and USH1F also have a large gene problem, and lack a good animal model for testing as well. These two significant challenges aren’t only common in ocular genetic disorders, but also many other neurological and hematological diseases. Martha Neuringer’s innovative strategy is attempting to use CRISPR-cas9 (gene editing tool) to alter the DNA (Myosin VIIa gene) of a NHP (Non-human primate) embryo in order to create an ideal animal model from birth that accurately expresses the same disease symptoms as seen in humans. The gene editing tools and processes her team are creating - if successful - will theoretically be repeatable for any disease in need of an accurate animal model.

Shannons Boye’s Dual-AAV strategy is an attempt to overcome the large gene delivery hurdle. Her methodology proposes cutting the gene at an ideal location in order to create two small packages for easier delivery within a new hybrid AAV vector. Once administered to the retina the two halves of the gene recombine to form a whole functioning gene and ideally halting retinal degeneration. If this methodology is successful it lays the foundation for a reproducible blueprint for delivering any large gene that causes retinal disorders and theoretically for any other genetic disease with a large gene obstacle.

Pushing Forward

Even though this program holds incredible promise our work is far from over. The successful editing and birth of a genetically engineered USH1B model is difficult (to say the least) and has yet to be demonstrated, and the Dual-AAV strategy still has to be proven before even preparing for clinical trials. Clinical trials are incredibly expensive and this work is never guaranteed. Anyone who has Usher Syndrome Type 1B or any family member with a loved one who has USH1B knows the reality and pain of a failed clinical trial because of the unsuccessful 2017 UshStat trial. Usher Syndrome researchers learned a lot from that trial, but it serves as a constant reminder that we can’t count on one therapeutic strategy. We have to constantly be identifying and supporting new strategies and research programs in order to ensure we’ll find a valid treatment in time.

What’s next

We raised $285K in our first year. We originally had a goal of $2 million in 2 years, but COVID-19 has drastically impacted our ability to fundraise and significantly slowed research. We have a long way to go to hit our goal, but we are hopeful we can raise enough funding this year to make another substantial contribution to medical research. At the end of this year the process of selecting the most promising USH1B and Retinitis Pigmentosa research programs will begin again. In February 2021 The Foundation Fighting Blindness Scientific Advisory Board will begin a thorough 4 month long grant review process in order to identify the research team that has the greatest potential for therapeutic success; and that’s who we’ll be supporting.

Thank You

We can’t depend on pharmaceutical companies or the NIH to fund rare disease research for disorders like Usher Syndrome, that burden falls on the shoulders of parent lead organizations like Save Sight Now. This past year we asked for your support in sharing that burden, and you did, in a big way. Thank you to all of our family, friends, friends-of-friends and strangers who supported us, trusted us and donated. We are humbled by your generosity and we are so incredibly grateful for your support. We hope you continue to believe in us and our mission because we cannot do this without you.

Thank you to everyone we have worked with at the Foundation Fighting Blindness, you are the most reliable and informed partner we could have hoped for.

Self-reflection is a valuable tool for learning and evolving, and after not being able to connect with our USH1B rare community as we had hoped, we conducted a survey to better understand why; and learn how we could potentially increase family engagement.

We started Save Sight Now - a patient lead research organization - to act as a conduit for USH1B families to ensure their donations reach the most promising RP/USH1B researchers; and to act as a communal fundraising platform for all families to leverage, feel a part of and contribute to at any level.

In the rare disease space, there are over 7,000 rare diseases competing for attention; and not nearly enough researchers and funding to address them all. Patient lead organizations backed by their rare community who are organized, motivated, loud and persistent are the only ones who drive progress for their disorder. In order to accelerate research we need support from our USH1B community. Applicable treatments exist today, but it’s up to us to ensure Usher Syndrome Type 1B is a funded target for new medical strategies.

Survey Results

Below are the survey results. It’s important to note that we only asked individuals who are directly impacted by Usher Syndrome Type 1B. This includes individuals living w/ Ush1B, Mom, Dad, Grandparents and other caregivers. Only 34% of families who were contacted or made aware of the survey responded and 95% of everyone polled was familiar with Save Sight Now and past fundraising events. In the following sections we’ll summarize our high level take aways from these results, offer some feedback and share how we plan on making these learnings actionable moving forward.

Overall Response rate

While this stat is not ideal, it was better than what we expected. It represents a small but mighty group within the USH1B community whom we look forward to working with.

Who Responded to the survey & how many supported campaigns

We learned that moms were the most engaged and a fair amount of grandparents were engaged as well. We also learned that 27% of people surveyed did not support fundraising campaigns by promoting or donating which is a disappointing stat.

Common Reasons for not supporting

27% of respondents did not support SSN - these were their most common reasons: 1) I’m supporting another organization and 2) I’m not living in the US.

Treatment Importance vs. Involvement Interest

Finding a treatment is incredibly important for a high percentage of the community, especially everyone we surveyed with USH1B. Although the interest to get involved isn’t as great as the importance for finding a treatment, it still reflects a significant desire to help Save Sight Now.

How I’d Like to Get Involved

This is the most impactful data we collected. It represents a significant amount people who want to help, but just need some guidance and options.

Summary

Overall we recorded low USH1B community engagement - obviously not what we were hoping for, but in line with what we have been experiencing. Less than 40% of the community we have exposure to supported Save Sight Now fundraising campaigns, which was in stark contrast to the high importance the majority of individuals placed on finding a cure or treatment. We see this as an opportunity for growth. If the majority of the USH1B community is prioritizing a treatment, but not supporting the only USH1B research focused organization, perhaps we need to do a better job of sharing our strategy and mission. Even though we would reach our goal faster with more support from our USH1B community we are thankful for those that responded and who want to actively be involved. We don’t need 100% participation from our community to make a significant impact.

We learned that the two most common reasons for not supporting SSN are that people were supporting another organization or did not live in the US. We think it’s possible and necessary for our USH1B community to support multiple Usher organizations; and degrees of support can vary depending on personal prioritization. Some organizations focus on education, support and advocacy while others focus on medical treatments. We think all are important which is why we promote and support all other transparent Usher organizations.

We also learned that some of the USH1B community felt they couldn’t support or promote SSN because they live outside of the US. We actually had many non Usher Syndrome community supporters from outside the country donate and promote during our campaigns. We understand there is an extra layer of difficulty when recruiting support in another country, but that’s one of the reasons we partnered with the Foundation Fighting Blindness - the worlds largest international IRD foundation funding research. This partnership strengthens SSN’s credibility as a valid and international organization. USH1B effects thousands of people outside of the US and we all share a common goal regardless of where we are in the world. The internet has no borders and neither should our reach. We’ll be focusing on addressing this issue.

This survey was incredibly valuable and educational for our organization. It gave us insight into what percent of the USH1B community wants to be involved - and how. It exposed some gaps in our messaging strategy and confirmed that we still have a lot more to do.

Next Steps

We’ll be reaching out to everyone who left their contact information and wants to actively be involved. We’d like to understand everyones comfort level in regards to how they would like to support. We also discovered that there are individuals who would like to be on the board of SSN and we are more than happy to discuss what that entails. In the next couple of weeks we’ll be creating some high level ‘how-to’ information in regards to supporting campaigns, hosting campaigns and how we can help with all of it. Thank you again to everyone who participated!

If you would like to be involved, but didn’t leave your contact information please feel free to reach out to us here: justin@savesightnow.org or you can send us a message on Facebook.

“The Future depends on what we do in the present”

— Mahatma Gandhi

We have all been impacted by this unprecedented pandemic in many different ways.  For those of us working tirelessly to push Usher Syndrome research forward, this has significantly set us back. Rapid retinal degeneration in our children doesn’t pause while research does; which is why we can’t afford to wait. We’re asking for your help to reduce the impact of this setback and help us regain the time we’ve lost.

It’s not easy to ask for help at a time like this. However, our research community who receives funding from non-profits are not only struggling to keep the lights on, but are at risk of losing existing work. It takes a dedicated research team to keep cell cultures, zebra fish and mice models alive, as well as observe and document progress with in-flight experiments and tests.

In an effort to promote unity and support struggling non-profits, a global day of giving will take place this Tuesday May 5th. #GivingTuesdayNow is an emergency response to the unprecedented need caused by COVID-19. I know some of you can’t afford to help at this time, but for those who can, we are grateful for any support – $10 - $100 – every dollar helps us get through this.

Thank you for all your support.
Please Take care of each other.

Justin

The rescheduled date is September 24th, 2020

Join Us

We look forward to celebrating Save Sight Now’s first year with you and guests from throughout the Bay Area. We are hosting a food and beverage focused cocktail event with local, quintessential San Francisco restaurants like LihoLiho Yacht Club, Comstock, and Blue Plate providing one unique dish each, and independent beverage companies (AMASS and Fort Point) supplying premium spirits and craft beer. The evening will include, music, specialty cocktail tastings, curated buffet, auctions, a live program and more. This fun evening celebrates the power of community coming together to help save the vision of children and adults impacted by Usher Syndrome, by ensuring their world doesn’t go dark.

VENUE: The Office @ Churchill - 194 Church st. San Francisco, CA 94114
WHEN: Thursday September 24th, 2020
TIME: 6:00 - 9:30pm

CONTACT: For any questions please contact:
Justin Porcano | justin@savesightnow.org

$125 ticket purchase includes food and drink for the evening,
and the opportunity to participate in tastings and auctions. Seating is limited.

For those that cannot attend, but would like to donate, please visit HERE. For individuals and companies interested in sponsorship opportunities please download PDF below or contact Justin Porcano: justin@savesightnow.org

event sponsorship opportunities:

Thank you Body Kinetics for supporting Save Sight Now and our family. When Wayne the manager at Body Kinetics in San Rafael learned we weren’t showing up at the gym because all of our spare time was being put towards running Save Sight Now, he immediately threw his support behind us. Several days later we learned that they planned on organizing several events at all the Marin County Body Kinetics: Yoga, Cardio Kickboxing, Cycle and Zumba. Thank you Wayne and thank you Body Kinetics, we are so grateful for the local community support.

Classes are this Saturday February 29th, starting with 8AM Yoga and 8AM Cardio Kickboxing, then 9:30 Cycle and 10:30 Zumba.

Our First Year

As our first year comes to an end we want to share what we’ve accomplished, because without you and your support, we wouldn’t have gotten here.

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1 Invaluable Partnership

We started by partnering with the Foundation Fighting Blindness - the world’s leading Inherited Retinal Disease foundation. This partnership has allowed us to collect tax exempt donations - specifically for Usher Syndrome 1B research - and has given us access to their robust scientific advisory board, as well as their kind and supportive team.

454 Followers

Thank you for sharing our efforts and following us on Facebook, Instagram and Twitter. Your continued help spreading awareness about Usher Syndrome is incredibly valuable to our success.

1,051 Donors

We are grateful and humbled by this number. 1,051 friends, family, peers, co-workers and complete strangers felt compelled to help us save the vision of our daughter and thousands of other children and adults, and we can’t thank you enough. We hope you’ll continue to support us, because we’re going to need your help fighting childhood blindness.

237,999 Dollars

All funds raised before the end of the year will go directly towards sight saving research. In January 2020 the FFB’s Scientific Advisory Board and oversight committee will evaluate all USH1B and RP research programs to determine where our funding will have the most impact. On average it costs $100,000 a year to support a research track of work and we currently have the ability to support multiple tracks, or one for over 2 years - that’s amazing! We’ll let you know when Save Sight Now funding is awarded and the impact your donations will be having. CLICK HERE to see a list of our potential funding recipients.

Thank you so much for supporting us this year,, we look forward to seeing the impact your donations have in 2020.

Ona gives back to their community through random acts of kindness initiative donating $1 from every sale to Save Sight Now to help fund medical research that could cure childhood blindness related to #ushersyndrome. To all my local Marin and SF friends looking for a socially conscious cannabis dispensary with high quality medical products that delivers and is now supporting Lia and our mission, PLEASE visit www.ona.life for all your cannabis needs. Check out their article in 7X7

Our local brewery the @stateroom has named their seasonal Dubbel🍺after Lia - Sweet Lia Dubbel - and is donating a portion of all sales to savesightnow.org in order to help us fund #Ushersyndrome research. Swing on by The State Room on 4th st in San Rafael, CA to quench your thirst and support a great cause. If you can’t make it there, you can still support Lia and others with Usher Syndrome HERE

We recently met a family battling the same genetic disorder that Lia has (Sisters For Sight). They have two daughters with Usher Syndrome Type 1B. Today (Nov 11th 2019) – Veterans Day – always has special meaning to me because my father is a Vietnam Vet (Sgt. 82nd Airborne) and earned the Purple Heart after being wounded. However, I can’t begin to imagine what this day means for families who have lost loved ones who made the ultimate sacrifice. Ava and Stella, both diagnosed with Usher 1B lost their father – Captain Jeff Haney (USAF F-22 Pilot) – at the ages of 5 and 2 and soon after learned the cause of their deafness was a rare genetic disorder called Usher1B, and it was now also rapidly robbing them of their vision.

Ava and Stella are now 11 and 14. In honor of Jeff and his sacrifice, Anna (Ava and Stella’s mom) is raising money to help fund medical research that can save their vision. To support Anna, Ava and Stella please follow this LINK to donate

Their fight is our fight.

Anna Chambers takes Halloween to the next level to raise awareness around Usher Syndrome and make the most of Halloween(s) with her girls. We are so proud of her efforts and resilience, and her incredible costumes! You can read more about Anna, her girls and their story HERE. We are honored and excited to be working alongside these Sisters For Sight.

We are excited and proud to announce that Sisters for Sight will be joining Save Sight Now in our efforts to raise funding for USH1B research. The coming together of this community to focus our efforts and attention on the same target is what will allow us to arrive at a treatment faster than if we went at it alone - there is undeniable strength in numbers. We look forward to working side by side and fundraising with Sisters for Sight - Ava, Stella and Anna. I want to share their story and why they started Sisters for Sight (years ago) through Anna’s words:

For those of you that don't know, we recently found out why Ava and Stella were born deaf. They both have a very rare genetic syndrome called Usher Syndrome type 1. The girls have already lost so much. Born deaf, severe balance issues, losing their father at the tender age of 5 and 2. I thought we had been thrown enough curveballs, then came Usher Syndrome. Currently there is no cure, without one Usher will rob them of their sight also. I thought it would be easy to put something together to be proactive about raising the much needed funds for research, but it is something, like anything worthwhile, that will take time. I thought documenting our journey here would be good therapy, as well as a good way to spread awareness. Ava wants to see the Eiffel Tower one day. Stella Rose wants to be a veterinarian. I have so many hopes for their future. So many things that I want them to do and see. I will do my best, I will prepare them for a world without sight. Vision will not hinder them from being smart, successful, independent women. It does make my heart sink to think of them not being able to know the feeling of looking into the eyes of their first born, possibly forgetting what I look like. These things are too awful to think about right now and I am certain that by doing my part, spreading awareness, and being as proactive as I possibly can that they will not have to experience life without the gift of sight. This is our journey as a family. We hope that you will join us on it.

Therapy delivery methods aren’t always the focus when we discuss gene therapy strategies. However, they play such a critical role in the holistic success of a gene therapy. A valid gene therapy strategy which stems from years of challenging, good scientific work can sometimes be tainted or unproven because of a poorly designed delivery system or human error at the time of a procedure. Researchers at John Hopkins are working on a delivery concept that could be as affective as sub-retinal injections, but much safer. READ MORE

We are honored and proud to have the support and love from our extended Holland family: Jackson, Carolien de Bie and Willem Verheijen. Our connection with them was immediate from the first time we spoke; we are cut from the same cloth. We knew immediately we had found life long friends and partners who we aligned with us on our mission to save our children's vision. We are excited to be working together with Ushermom and so happy to have them on the Save Sight Now team! Please read this beautifully written story about UsherMom and Save Sight Now

The story of Justin and Rosalyn from San Francisco is our story. Their daughter Lia was diagnosed with Usher 1B when she was 5 months old. The first time we spoke was emotional, it brought back so many memories for us. But as with many other Usher parents, there’s an instant connection. The mutual understanding of fear and grief. The not knowing, the uncertain future, the future that you envisioned so differently for your child. But these parents were also determined. Justin could tell me more about ongoing Usher 1B research than I had ever find myself. (READ MORE)

After months of speaking with our Congressman’s office and with help from our local community Jared Huffman has agreed to co-sponsor the Faster Treatments and Cures for Eye Disease Act HR 2620. This is an incredibly important bill that has the potential to save millions of people from going blind. This accomplishment is an important reminder of the impact we can have when we collectively raise our voices in support of legislation we believe in. To learn more about the bill and how you can ask your congressman or congresswoman to do the same, please visit Save Sight Now HR2620

WOW! Thanks to the help and support of over 700 of you we reached our first fundraising goal of $150K! This is such an important fundraising milestone on our way to $2M in 2 years. Every dollar raised goes towards funding promising medical research that has the potential to save the eyesight of thousands of children and adults who are progressively losing their vision.

The Marin Independent Journal reported on our story and how and why we started Save Sight Now. Please visit the Marin Independent Journal to read the full story

We are kicking off our first fundraising campaign this Monday August 12th to raise money for promising medical research that can save Lia’s vision and others with Usher Syndrome Type 1B. Please help us by donating and sharing Lia’s story. Thank you.

Our Dear friend Ian Lee just completed a double marathon in support of raising awareness and money for Save Sight Now. He flew to San Francisco from London to run in the SF Ultra Marathon. We’re happy to say he completed it in 11hrs! He is alive and well and already on a plane back to London. Ian managed to raise over $1,500. Thanks Ian!

Bipartisan consensus is rare these days. But one thing that Republicans and Democrats have agreed on in recent years is federal support for biomedical research at the National Institutes of Health. Congress has approved significant increases in federal funding for disease research in each of the last four years.

Since Congress funds the research, Congress also has responsibility to get results. Unfortunately, there is a significant gap in funding for translational research. Because of this gap, federally funded research is sitting on the shelf, ignored and unused. READ MORE >>

HR 2620 is bipartisan bill recently reintroduced to Congress aimed at raising $1 Billion through the creation of eye bonds. Eye-bonds would fund translational research and advance treatments and cures for many diseases and conditions that lead to blindness and severe vision impairment for over 4 million Americans and 1/2 million children. This bill is a new model that has been designed to bridge the funding gap between proven research and real treatments, but we need your help convincing our congressional representatives how vital this bill is. HELP HERE