Bardet Biedl Syndrome Family Association

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Donate to the BBS Fund

We have launched a BBS Fund to support the new BBS Clinical Registry as well as BBS research and treatment.

Click here to make a donation.

Up to $5000 of donations this weekend will be matched dollar for dollar. If you give $100, $200 will go the BBS Fund. But it’s this weekend only!

Update: We reached our goal! This weekend more than $10,000 was raised for the CRIBBS, the BBS Clinical Registry, and for the BBS Center of Excellence!

It Really Is Your Last Chance…

There are just 14 days left before our conference at the University of Iowa opens. And there are only 14 spaces left for attendees.

This really is your last chance. Don’t miss out!

Register Now!

135 People Have Registered for our Conference. Have you?

Our conference is rapidly approaching, but there is still time to register. Don’t miss out on this incredible opportunity to hear from leading doctors and researchers on BBS and to meet more than 50 BBS families.

Register now.

Last chance to have a say on 2014 Conference Agenda

We’re about to finalize the agenda for our June conference. Anyone registered by Wednesday night gets a vote on how much time we spend on several topics on Friday. So go ahead and register now!

Mar 4

More on CRISPR

Our most recent newsletter has an article on CRISPR, a huge breakthrough for developing gene therapies for syndromes like Bardet Biedl. Today, the New York Times has an article that explains CRISPR in more depth. 

In the past year or so, researchers have discovered that the bacterial system can be harnessed to make precise changes to the DNA of humans, as well as other animals and plants.

This means a genome can be edited, much as a writer might change words or fix spelling errors. It allows “customizing the genome of any cell or any species at will,” said Charles Gersbach, an assistant professor of biomedical engineering at Duke University.

It also discusses some of the challenges moving from this breakthrough to actual treatments.

Read it here.

Mar 3

A Rare Disease Registry at Work

The New Yorker has an article about an enterprising young woman who, with the help of friends and relatives at a research university, created a registry for the rare form of cancer that she suffered.

Although the registry only includes 15 patients so far, it has already yielded important clues for diagnosis and treatment. It’s a great example of why the new BBS Registry hosted at the Marshfield Clinic is so very important. The article does a nice job of explaining a value of a rare disease registry.

Do read it.

February 2014 Newsletter: A Letter from the President

Exciting things are happening in the Bardet Biedl community. In this issue of the newsletter you’ll read about our 2014 Conference from June 26-28th at a new venue with a new focus on living with BBS, exciting new research on BBS therapies, and the conversion of the association into a non-profit. You’ll also hear about the new BBS Center of Excellence at the Marshfield Clinic, new fundraising initiatives, and a BBS registry to advance research.

There’s so much going on we can only give an overview of all of these developments in the newsletter. That’s why I hope you’ll join us at the 2014 Conference, keep in touch via our website or Facebook page, and most of all, volunteer to help on one of our projects. I hope you are as encouraged and excited as I am about these developments. If you have questions about the association or about anything in the newsletter, don’t hesitate to get in touch. Looking forward to seeing you in Iowa City soon.

Download the complete newsletter in PDF form here.

Table of Contents:

Experts on the Agenda at the 2014 Conference

Why Iowa?

Fundraising for BBS Research and Outreach

Nonprofit Registration Update

Launching a BBS Registry: A Path to Treatment

Join the BBSFA Directory

CRISPR: A Huge Leap Forward for Gene Therapy

A Visit to the BBS Center of Excellence

A Letter from Dr. Haws, at the BBS Center of Excellence

2014 Conference: Experts on the Agenda

Our Saturday agenda at the 2014 Conference (June 26-28) is packed with presentations from some of the leading researchers on BBS.

Confirmed speakers include:

Dr. Nico Katsanis, Center for Human Disease Modeling, Duke University:
Dr. Nico probably needs no introduction, but for those new to the community, he has hosted the last two association conferences. He has been a leader in BBS research since before any genes were identified, and has recently identified yet another gene.

Dr. Elise Heon, chief of pediatrics, Hospital for Sick Kids, Toronto: Dr.
Heon spoke at our last conference (you can see a summary of her talk on our website). She has been busy in the meantime with BBS research not only on vision but on obesity.

Dr. Les Biesecker, National Institutes of Health: Dr. Biesecker leads the
BBS research program at NIH and we’re excited to hear about developments there.

We will also be joined by our host researchers for the conference:

Dr. Val Sheffield, University of Iowa: Dr. Sheffield is another groundbreaking researcher on BBS, publishing papers on BBS genes, cilia and the underlying causes of the syndrome.

Dr. Arlene Drack, Wynn Institute for Vision Research, University of Iowa:
Dr. Drack is an ophthalmologist and researcher who is perhaps best
known for her work testing two different therapies for BBS-related vision
loss, TUDCA and gene therapy in BBS3 mice. You can hear Dr. Drack
describe her research here.

2014 Conference: Why Iowa?

After holding our last two conferences in Durham, NC, our 2014 Conference will be held at the University of Iowa. Duke University was a great location so why did we decide to change?

First, many of our members from the Mid-West, Southwest and West
were ready for a conference a bit closer to home.

Second, there is some exciting BBS research happening at the University of Iowa. We wanted as many families as possible to connect with those researchers. The recent announcement of a major gift from Steve Wynn to fund more research on treating retinal degeneration makes it an exciting time to be in Iowa. You can read more about the gift and the research going on at the Wynn Institute for Vision Research at the University in the newsletter. (a limited number of families who are interested will be able to see the doctors at the university the day before the conference).

Third, the location in Iowa is reasonably close to the Marshfield Clinic
Center of Excellence, which allows speakers from the Center of Excellence to come, and for some families to combine a visit to the Center of Excellence with a trip to the conference.

February 2014 Newsletter: Fundraising for BBS Research and Outreach

One of the reasons for transforming the association into an officially registered nonprofit was to facilitate fund-raising in support of our mission: improving the lives of all people affected by BBS. Delays in getting certified as a Federal 501(c)3 have put a kink in some of our plans (see the following page for details), but it hasn’t stopped them.

Our first two major fund-raising projects are partnerships with the Marshfield Clinic and the Wynn Institute for Vision Research at the University of Iowa. We have made arrangements for both organizations to soon begin accepting donations earmarked donations for BBS projects. One such project is the creation of a BBS registry.


You can read all about that in the registry article. The second is an effort to launch a clinical trial of TUDCA to slow retinal degeneration in BBS. Conducting clinical trials is extremely expensive, typically costing in excess of $1 million. There are organizations that grant such large sums for research. We will be raising funds to help support Dr. Arlene Drack and her team at the University of Iowa in pursuing such grants.

Of course, we have a number of additional projects within the association that could move faster with some donations: a new and better website for the association, a revised BBS handbook, a library of research on BBS translated into “plain English”, educational videos about BBS, etc. So if you’d like to donate to the association, or contribute to one of these projects with your time, please contact us!