Bardet Biedl Syndrome Family Association

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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!

February 2014 Newsletter: Nonprofit Registration Update

In our last newsletter, we shared that we were converting the association into an incorporated non-profit that can raise funds. We’ve made some important strides but also hit some significant roadblocks. First the good news: the Bardet Biedl Syndrome Foundation is now an officially incorporated non-profit in the State of Delaware. We chose the name Bardet Biedl Syndrome Foundation so that the organization would be more easily recognizable as a non-profit. However, we are also recognized under the name Bardet Biedl Syndrome Family Association (this is a point of corporate registration known as “doing business as” or dba). Both names work.

We chose to register in Delaware as it is one of the easiest, cheapest and simplest states to register in. As part of the process of registering as a non-profit corporation in Delaware we had to revise our by-laws to comply with state requirements. These changes were relatively minor but do reflect best practices for running a true non-profit organization. If you have any questions about them, please contact us.

Unfortunately, being recognized as a non-profit corporation is only the first step. After registering in Delaware, you have to go through an additional process to be recognized as a federal non-profit with a 501(c)3 designation. This is the designation necessary to accept tax-deductible donations. The application is an arduous process in and of itself, but if you’ve followed the national news this year you know that there has been some controversy over how the IRS has processed applications for federal non-profit status. As a result, the IRS stopped processing all applications for several months. That delay was compounded by the federal government shutdown this fall. The bottom line is the IRS is approximately 70,000 applications behind in processing. It may take as much as a year before we get our approval. The only thing that the delay affects is our ability to accept tax deductible donations directly. We can still accept donations and continue our normal operations. We’ve also made arrangements with the Marshfield Clinic and the University of Iowa to accept donations for specific BBSFA-endorsed projects. (Read more about that in the fundraising update).

Launching a BBS Registry: A Path to Treatment

Over the last ten years research on the genetics of BBS has progressed by leaps and bounds. We know about almost 20 BBS genes. We know about cilia, intraflagellar transport and the BBSome group of proteins. That genetic knowledge has helped us understand some of the symptoms of BBS, from retinal degeneration to decreased sense of smell. But there are plenty of areas where mysteries remain: why does a cilia defect cause obesity? Why do people with BBS have low muscle tone? Why do some people with BBS have autistic tendencies? Why does BBS affect people with the same gene so differently?

These are important mysteries to solve because they are the next step toward the ultimate goal: finding effective treatments for the symptoms of BBS. So how do we solve these mysteries? And how do we accelerate
the progress toward finding treatments? The first challenge is gathering information about how BBS affects people. Because there are so many genes and every person with BBS has a different set of symptoms, it’s
very hard to establish patterns. To see those patterns and to know that they are real, researchers need access to a larger pool of data about BBS families. To be able to test hypotheses and develop treatments they
need to be able to easily find BBS families with certain genes and certain symptoms.

To save time and money in the process, researchers need access to clinical information—bloodwork, sonograms, ERGs, OCTs, ECGs—so they don’t have to redo all those tests. To attract funding for clinical trials
of possible treatments, researchers need to show the organizations that fund such trials that they can find enough patients to participate in studies. In other words, the most important step right now to accelerate
understanding BBS and developing treatments and courses of care is a registry.

A registry is a central store of genetic and clinical data for patients affected by a particular syndrome or disease. You may have heard of the National Bone Marrow Registry—a store of information about all the people who are in need of a bone marrow transplant or are willing to donate bone marrow.

Many rare diseases have registries because they are so useful to researchers. The Foundation Fighting Blindness is launching a registry for patients affected by retinal degeneration. That registry however will only collect data about vision, not any other symptoms. That’s why we need a BBS Registry.

In short, a registry:

• Brings together genetic and clinical information
• Accelerates research into effective treatments
• Attracts researchers
• Makes it easier for researchers to find funding.


Building a registry is not a small undertaking. Because a registry contains highly sensitive medical information it has to meet all the highest standards for privacy and security. Only screened researchers get access to the registry. Each person’s record is anonymized so that specific individuals can’t be identified without their explicit consent. The technology has to be in place to allow the registry to efficiently store and sort a large volume of information.

As part of its work establishing the Center of Excellence, the Marshfield Clinic has agreed to host and partially fund the development of a BBS registry. It’s a big help to have the registry hosted at a clinical center. All patients who visit the Center of Excellence can easily transfer their medical records for the registry. Marshfield also has all the necessary experience to manage compliance with federal HIPAA and privacy regulations. Dr. Bob Haws has already begun to collaborate with the National Institutes of Health rare disease registry group to design the BBS registry. However, a great deal of technical work needs to be done to actually build the registry. And that costs money. We are making the registry a top priority for fundraising and will be launching a number of programs in conjunction with the Marshfield Clinic to allow members of the Bardet Biedl Syndrome to participate in fundraising efforts. Stay tuned for more information about the BBS Registry. We’ll be talking more about it and gathering data for the registry from families at our 2014 conference.

Join the BBSFA Directory

The new BBS registry gathers information about BBS families for researchers. We are also launching a BBSFA directory to gather information for families.

We want all members of BBSFA, new and old, to be able to easily find other families in similar circumstances. That may be others in your state who have dealt with social service agencies. It may be finding parents of children of similar age. It may be creating a group of BBS adults who want to talk about job searches. It may be seeking help finding a “BBS-friendly” endocrinologist in your area.

Whatever the case, right now it is too hard to connect with other BBS families with shared interests. Making it easier to connect is the goal of the BBSFA directory. It’s a directory that only members of the association will have access to. It will contain basic information about each family or individual that is a member of the association and whatever contact details you choose to share. If you’re registering for the 2014 conference, the information for the directory is part of the registration process. It will also be part of the membership application from now on. If you’re already a member but aren’t yet registering for the conference, please contact us.