Centre of Genomics and Policy, McGill University Seeks Study Participants

This letter received sent to the CRFC by the Centre of Genomics and Policy at McGill University invites those interested in participating in a research study to contact them.  See details below.  You can view the ads (referenced in the letter) on our Facebook Page.

Dear Sir/Madam from the Choroideremia Research Foundation,

we are writing you from the Center of Genomics and Policy (U. McGill, Montreal) to request your assistance in the recruitment of patients for our study “Preferences and the Value of Whole-Exome Sequencing as a Diagnostic Tool for Rare Diseases.” It is part of the CARE for RARE project, a pan-Canadian project promoting the use of a new genetic technology for diagnosing rare diseases.

The aim of our study is to explore and understand the perceptions and opinions of patients with rare diseases regarding the value of obtaining a diagnosis. Furthermore, we would like to understand the value of using technologies such as whole-exome sequencing (WES) in providing a clinical diagnosis for patients with rare diseases.

We are recruiting adults patients and parents of children with rare diseases for focus groups to be held in Calgary, Edmonton and Ottawa between February-April, and would greatly appreciate your help in sharing information about this study within your Choroideremia community.

Please find attached our ads for the study with our contact information. Please feel free to post the ads in your
association and on its website and social media pages, and share them with any other associations, clinics or professionals working with patients with other rare diseases.

This study and all ads have received ethics approval by the Universities of Calgary and McGill.

Please do not hesitate to contact us if you wish to have more information.

We thank you for your attention and help.

Kind Regards,

Daphne Esquivel Sada
Research Assistant
Centre of Genomics and Policy
McGill University


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Caught by a Wave

The following is a blog post from CRFC Board president Robert Hillier.

The Oxford results published in the Lancet on January 16th, were more than a year in coming.  We eagerly awaited this information throughout much of 2013, the trial having started in October of 2011, and I had pretty much given up hope when I wrote to Dr. MacLaren on January 4 to ask if he had a firm date? I was elated to receive an almost immediate reply indicating that my/our wait was almost over.  The Lancet January 16 edition would reveal all!

I was prepared to wait patiently (no pun intended) until that date arrived but on January 14th I was called by Avis Favaro and asked if I would be available for an  interview mid-day on the 15th for the evening CTV news. She had background information to share including the Oxford/Lancet paper and subject experiences for interview preparation.  I said yes and moments later had the paper I had waited over a year to see!

Promptly at 12 noon on the 15th, Robert the camerman arrived and for almost two hours he set-up and filmed Martha (my wife) and me in and around the house and answering questions posed by the CTV producer Elizabeth remotely in Toronto.  Avis was tied up with Dr. MacDonald at the exact same time.

About a minute after Robert the camerman hit the road our phone rang again, oh no!   Micheal, the produces of the CTV all news channel was asking if I would come to Toronto to do a live interview at 10:20 a.m. Thursday the 16th.  While I did vacillate briefly because getting there is often the biggest battle, I did ultimately agree and my second adventure began.

That evening, I studied up on the Oxford paper and with detailed reading was even more impressed in how effective the treatment was particularly for the two participants with the most progressed symptoms.  Also in how the surgical equipment was able to manage extremely small volumes of vector solution including the recovery of surplus fluid for later potency analysis. Wow!

We also had a few moments to watch ourselves on the CTV national news and build nerves for the day ahead. (You can watch the story and read the article here)

My good friend Gary arrived early at 6:55 a.m. Thursday and we headed off to the CTV broadcast centre located in northeast Toronto.  Being an hour early we were able to review some potential questions and answers and that seemed to calm the nerves a  little as we drove around the neighbourhood.

At 9:50 a.m. we made our move entering the secure parking area and noting that parking spots for both Lloyd Robertson and Lisa Laflame were occupied. After a short walk to the front desk we were greeted by Michael and assured that the broadcast was “live” and not “live to tape” but nonetheless, a calmness prevailed.  Minutes flew as I progressed through my final washroom break (TMI), time in the green room with a glass of water, a trip to make-up for a dose of powder and then on to wait quietly in the control room “ready chair”.

During a commercial break, I was guided by Gary’s elbow to the on-set guest chair and had a few brief moments to chat with Jacquiline about how to pronounce choroideremia and how exciting the news was and then, bang, welcome back and here we go.

In preparing, Gary and I had chatted about how personal experiences were better than book data.  I tried to make it personal.  One of the key messages of the Oxford paper is that well before young people with choroideremia become symptomatic, their retina’s are changing including becoming thinner and loosing their response to low light.  It would appear that ultimately their goal is to support the administration of the vector before patients become symptomatic.  That’s why I tried to focus on the reproductive issues and concerns of young mothers giving birth to boys who potentially have choroideremia.

In a flash, I was done.  An experience to be remembered.

Avis has asked that I keep her posted on future developements as she is always looking for follow-up stories.

In the live interview I mention the experience of Jonathan Wyatt the first U.K. participant to receive the vector injection and his seeing stars for the first time in a very long time.  I don’t think I was able to do it justice.  Please take a moment an listen to him first hand!

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A Visit to Dr. MacDonald’s Lab

*Our guest blogger for this entry is CRFC Treasurer, Dave Furgoch.

In early August, my wife and youngest daughter traveled to Edmonton for a vacation and to visit my oldest daughter, Mira, who is working as a summer student in Dr. Macdonald’s lab.
I was thinking that we might spend an hour touring the lab and facilities, but we ended up staying there close to 4 hours.

The facility is quite new.  Dr. MacDonald and his team moved in less than a year ago.  Mira introduced us to Dr. MacDonald and his team that consists of Jackie, the lab manager, Paul, a  post doc, and Stephanie, a genetic counsellor.
We then did the lab tour. The lab is new and large.  Jackie and Mira are the only two people working in the lab at present, however others will eventually make it their home as well.  Mira showed us around and described what they are doing.  This involves taking CHM genetic material, making copies of the CHM gene, breaking the CHM gene down into its base pairs, then analyzing it to find out where the exact mutation is.  Knowing the exact CHM
mutation could affect treatment in the future.

After lunch, we had a question/answer time with Dr. MacDonald, then decided to have Paul test me and my CHM-carrying daughter,  Amy, on one of their newest machines.  The machine is called the Full-Field Simulous Threshhold and measures the amount of light perception one can see.  Mira, who was tested a few weeks earlier, and Amy tested in the normal range, while I could see
much less light to a factor of 1,000 times less – that explains a lot (LOL)!

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Boston Conference Impressions

Martha and I along with our 31 year old daughter attended the CRF conference in Boston June 21 to 23.  It was the third CRF conference for Martha and me having attended New Orleans in 2004 and Baltimore in 2008, and our daughter’s first.  Now she knows why we go and why we are drained at the end.  One prominent organizer has described it as a family reunion but now with almost 200 first cousins and their children from eight countries. Everyone with an experience to share and a solution to offer.  All good and that doesn’t even take into account the scientific presentations!  Double good!

I tend to think of things in terms of highlights or memorable moments.
For one, we were honoured to have the organizers kick things off with a viewing of the CRFC video produced by Mark Huyser-Wierenga and created by Arlen Eldridge.  Again with the tears.

In a later Q and A session Dr. Seabra related that the UK clinical trial “could not be going better” and that in addition to no surgical complications, patients are reporting improvements.  Can’t wait!

A new focus of research is the potential for restoration and two presenters offered some encouraging results.  This we know is a long way from the clinic but nonetheless they report that RPE and photoreceptors are being created in the petri dish and the receptors do have the potential to connect to the optic nerve and from there the brain in mice.  Wow!

We were all moved by the honesty and grit contained in  Jeff Benelli’s keynote talk.  The theme, “doing the right thing!”  You will have to see it to learn more.

We were drained on the way home.  Filled with hope but also regret that we/I did not connect with more people on a one-to-one basis.  So many friends, so little time.  See you next time and boy will there be news to share!

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An Interesting Time for the CRFC

* This entry was submitted by CRFC President, Bob Hillier

A group of choroideremia guys and partners from Ontario, Canada  are heading to Philadelphia at the end of the month to have their retinas imaged with the newest tool available, for research.  Will let you know how it goes! Hope to see the liberty bell too.

It’s been an interesting ten months for the CRFC.

Thinking back, something started around the time my great aunt passed away at the age of 92.  She along with all her 4 sisters, including my grandmother, were choroideremia carriers born between the years 1895 and 1915.  L was the last to go.

Interesting fact is that three of the five never had children and two never married.  I always wonder if choroideremia had something to do with that but will never know.  It was not something people talked about back then.  Do they now?

I mention L’s passing because her will included a provision for a $10000 donation to the CRFC.  This notice came at a time when we were uncertain what the future might bring for the CRFC and more important, reasearch to find a cure.  In retrospect I now consider it a sign of good thing that came and continue to happen.

For one, in Septemeber, choroideremia experts from around the world gathered in the small historic town of Sommiers, France,  for the first scientific gathering of it’s kind.  For me, it was like being in a room full of “rock stars” including the scientist who had identified the problem gene, to the developer of the gene test,  to the developer of the choroideremia mouse model plus doctors who had actually done gene therapy trials albiet for a different eye disease.

We also learned that the UK trial was “soon” to start, “weeks or a couple months” but we had heard this before and were dissappointed.  Nonetheless a good sign of things happening in the choroideremia community.

October was a good month.  We learned that in fact the first patient had been treated.  As we like to say in our household, “there were needles in eyes!”  I think we should probably reconsider that phrase though as it does not elicit a nice mental picture.  Anyway, that work continues at a rate of about one patient a month.  Wouldn’t I love to have coffee with one of those fellows and ask him “how is it going and do you notice any differenc?”

Also in October, we learned that the FFB US had awarded $1.5 million to Dr. Jean Bennett at the niversity of Pennsylmania to develop a US FDA choroideremia aplication for a gene therapy trial.  Dr. Bennett’s team developed the gene therapy treatment for Lebers congenital amorouses so who better to do the same for choroideremia?
About this time, end of October, rumors were that Dr. Ian MacDonalds proposal to the CIHR Emerging Team Rare Disease competition had been shortlisted.  On November 11, yes a memorable day,  we met with the FFB to share all our good news learned at the France conference and the FFB US grant etc. but most of all, to let them know that Dr. MacDonald’s project was important to us, that it meant a potential cure and not just further disease definition, AND that we had a bit of money  ($75K) to throw in if it might help make things happen.  We were all speaking the same language as we all dearly wanted at least one of the selected proposals to be a vision project.  The FFB had funds ($250K) to devote too.

As it turns out, the CIHR also wanted to fund vision research with the word “treatment” in the title but, figuratively speaking, the tank was not quite full on their side either.  Everyone stretched satisfy the proposal finances and the project was approved and announced in February!  Work on the project has started and the magnitude of the task is becoming clearer to all.

Aunt L lived a long and productive life without regret I am sure but wouldn’t she be happy to see what her last wishes have helped make possible?

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International Symposium of Choroideremia Researchers

I’ve been asked to write about our experience at the first International Symposium of Choroideremia Researchers, held in Sommieres France Sept 21-23, 2011. But first, I should let you know who I am! My name is Martha Hillier, and my husband Bob Hillier has Choroideremia. We will celebrate our 34th anniversary in February, and have been dealing with this disease for about 30 of those years. We have worked together through many challenges and struggles related to this crummy disease, and will face many more I am sure, but attending this international symposium was one of the most positive, and encouraging experiences that we have experienced to date.

The information, atmosphere, and opportunity to meet not only the scientists working on Choroideremia, but families and individuals struggling with the disease, was really quite amazing! There are lots of tremendously exciting things that will happen in the next couple of years! I honestly didn’t know if we would ever see these days! We chatted and drank wine with the researchers from London who are now conducting the first clinical trials on CHM patients! (needles in eyes, folks!), and sat in the symposium listening to these brilliant and dedicated people who are making a real difference for all of us!

The symposium also allowed us to network with the folks from Choroideremie France, and the Choroideremia Research Foundation (US).  Over meals and while relaxing in the gardens of the beautiful Auberge, we shared our common goals and dreams, and discussed strategies for funding future research. It was unbelievable! I know that Bob and I were so pleased to get to know Beth Foss, CRF President, and this has already turned into a positive and productive relationship! Beth and I had a few pretty heavy conversations around the roles and challenges that wives and daughters of these guys have to deal with!

And of course, I have to tell you about the beautiful Auberge where this symposium took place! Sommieres  is a medieval town  with a 2000 year old Roman bridge crossing the river which runs through the centre of town! The Auberge had once been a woolen factory but is now a gourmet restaurant with about 17 hotel rooms. The rooms were really lovely and quaint with high ceilings, old ceramic floors, big old wooden doors, windows with wooden shutters, PLUS Bob and I had the only room in the place with its own terrace…we walked onto a beautiful terrace with our own little table and chairs! And the food was out of this world! We left Sommieres on Saturday the 24th, but only after exploring the town’s weekly market with Beth and Eric Hartman from CRF….what a wonderful few days…..they marked the beginning of some really exciting CHM times ahead!

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Welcome to our Blog!

We’re so excited to be launching a new website and Facebook page. There’s lots of exciting things going on in our fight to cure choroideremia and now we have the tools we need to keep you informed about and involved in our efforts.

As for this blog, we hope to host a number of “guest bloggers” such as people with choroideremia, their family members (I fall into this category), researchers and fundraisers. I hope that, among other things, these posts will help you to connect on some level with our fight and the people involved in it.

And who am I, exactly? My name is Kate Hillier-Edwards and I’m a carrier of choroideremia. My dad, Bob Hillier, has CHM and is the CRFC’s president. My family has faced lots of “choroideremia challenges” over the years and I’m sure we’ve got a lot more ahead of us. But we’ve never been the kind of people to shy away from a challenge. I’m confident that there will be a cure for choroidermia before my son, Cole, even has to worry about whether he has CHM or not.

I look forward to continuing to share with you via this blog!

My dad, Bob, and me after completing the 2010 Scotiabank Toronto Waterfront Half-Marathon in support of the CRFC.

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