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Bardet Biedl Syndrome Family Association

Connecting families and sharing information on research, treatment, and therapies for Bardet Biedl Syndrome.

BBSFA's 2016 Conference: Watch Live

We're very excited to announce that several of the plenary sessions at this year's conference will be available via Facebook Live. The plan is subject to change, but the plan is to broadcast 3 sessions on Friday: Friday at 9am: Tim Ogden on the past, present and future of the family association, Friday at 10am: Dr. Bob Haws on the past, present and future of CRIBBS, Friday at 2pm: Dr. Nico Katsanis on the past, present and future of BBS research.

To watch, visit our Facebook page on Friday morning and a link will be there. If all goes well, the presentation videos will also be available for later viewing.

You can see the full agenda for the conference here.

Connect 2015 Online

We are very excited to offer, for the first time ever, the opportunity for members of the BBS community who cannot attend our conference in person to listen in and participate in conference sessions.

Even better, because of the generosity of the BBS Center of Excellence at Marshfield Clinic, we are able to offer this option for free. However, because of the potentially sensitive information that will be discussed in various sessions, you must register if you want to participate.

To register and participate via phone, click here.

Agenda for Connect 2015

Updated September 20th


8:30 to 9:15 Breakfast and late registration

9:15 to 9:30 Welcome and Overview: Dr. Robert Haws and Tim Ogden

9:30 to 10:00  Update on CRIBBS: Dr. Robert Haws

10:00 to 10:30  Nico Katsanis PhD (via video)
Proteasome activators and current work

10:30 to 11:00 Scott Hebbring PhD
CRISPR/Cas9 technology and its implications for BBS

11:00 to 11:15 Break

11:15 to 11:45  Hema Murali MD
Sleep disorders and BBS

11:45 to 12:15  Tammi Timmler MS RD  CD CDE
Nutrition, weight management and BBS

12:15 to 1:00  Lunch

1:00 to 2:30  Rachel Stankowski PhD (moderator)
Stages of life in BBS- Tim Ogden, Amy Arnesen, Linda and Melissa Rickard, Jane Perry and Ellyn Hunter

2:45 to 3:30 pm-  Break Out Session 1

1) Raising a Daughter with BBS
2) Raising a Son with BBS
3) Diet management (adults)
4) Guardianship and social services

3:30 to 4:15 pm-  Break Out Session 2

1) BBS101/Just Diagnosed, Now What?
2) Diet  management (children and adolescents)
3) BBS Adults Forum
4) IEPs/504 Plans and working with schools

4:20 to 5:05 pm- Break Out Session 3

1) Ask the Doctors: Nephrology, Ophthalmology, Endocrinology, Cardiology, Sleep

2) Diet  management (children and adolescents)

3) Dealing with Vision Loss

4) IEPs/504 Plans and working with schools 

6 pm- Picnic dinner

Events: Open discussion for families
Fire truck display
Seeing eye dogs interactive session
Cow/small animal petting “zoo”

Registration for BBSFA Connect 2015 Now Open

Our next conference will be held at the Marshfield Clinic BBS Center of Excellence on September 26th. 

BBSFA Connect 2015 is focused on helping BBS families connect with and learn from each other in addition to having the chance to hear directly from medical professionals who treat BBS patients.

Morning sessions will feature doctors from the BBS Center of Excellence. Afternoon sessions will be co-led by a member of the BBSFA and staff from Marshfield Clinic and focus on discussions between BBS families on the most important issues in daily life. There will be conversations on topics like Transitioning to Adulthood, BBS and the Teen Years, Newly Diagnosed, etc., all chosen by conference attendees. 

We’ll have more details on the agenda soon.

Click here to start the registration process.

We can’t wait to see you!

Update on Gene Therapy for Retinal Degeneration Trial

The first trial for a gene therapy treatment for a retinal degeneration was focused on a disease called Leber Congenital Amaurosis or LCA. The initial results were very promising. 

Three year follow-ups have been disappointing as this article reports. But as Dr. Eric Pierce, who spoke at our 2012 conference, says in the piece, it would have been shocking to see the very first attempt at gene therapy to restore degraded retinas work perfectly. The most important news is still the same: the technique shows promise.

Note that this article is from a business magazine so they take an overly pessimistic view, mainly concerned about the impact on the current stock price of a particular company, not about the scientific advances in general.

There are also a number of other gene therapy trials at different stages. The bottom line: there is still a long way to go, but progress is being made. 

BBSFA Connect 2015: September 26, Marshfield Clinic

We had a terrific response to our survey on holding a conference in 2015 and many families responded that they were interested. There was a slight preference among those who would definitely or probably attend for September 26th. We know this won’t work for everyone but there are no perfect dates. Holding the conference in September gave us more time to make sure we can make everything run as smoothly as possible. And it made it possible to have more BBS Center of Excellence clinics slots around the conference.

There will Center of Excellence clinics the week before and after. Currently there are 4 open slots for September 22-25 and 7 open slots for September 28 to October 1. If you are interested in attending the clinic please contact Dr. Haws’ staff as soon as possible at this link. The slots will go quickly.

Why: Some may be wondering why we are moving to having a conference every year. There are several reasons.

First, the BBS community is growing. We hear from families who are newly diagnosed or have newly found us every month. Waiting for more than a year for the possibility of attending a conference is too long.

Second, for both new and old members, it is impossible to find a date and location that works for everyone who would like to attend a conference. For families who couldn’t make a conference when they were held every 2 years, it meant that 4 years would pass before they had a chance to reconnect with other BBS families and to hear about progress on BBS treatment and research directly from the experts.

Third, there are unique challenges to living with BBS. We wanted to create more opportunities for BBS families to meet each other, learn from each other, and support each other. While Facebook is a great resource for connecting with other people affected by BBS, it’s still not the same as sitting down face-to-face. We felt having more of those opportunities was important.

Our plan is that we will now have a conference every year. Conferences in odd numbered years will be focused on connection and living with BBS; conferences in even-numbered years will be focused on research. That doesn’t mean that there will be no opportunities to connect and share with other BBS families at our research conferences or that there will be not discussion of research at our connection conferences, just that the two conferences will be different. Knowing that travel to a conference is time-consuming and expensive for everyone, and not always possible, at the 2015 conference we’re going to test out some tools to let people who can’t make it to the conference in person participate in some of the sessions via the Internet with live audio and video. We can’t guarantee that what we try will work well, or even work at all at this point, but we’re going to try.

Stay tuned for details on cost, registration, agenda, and remote participation.

Easy Ways You Can Support BBS Research

Giving Tuesday

Giving Tuesday is a grassroots effort to shift focus after Thanksgiving from shopping to giving. On the Tuesday after Thanksgiving (December 2nd this year) more and more people are making donations to their favorite charities and encouraging others to do so as well.

Now that we have officially received IRS charitable organization status, we can take part in Giving Tuesday. So won’t you make a donation to the BBS Foundation on December 2nd and ask the people around you to do so as well? When you do, make sure to post it on your Facebook page or on Twitter with #givingTuesday and encourage others to join in.

Amazon Smile

But opportunities to support BBS research and treatment this holiday season don’t end there. Amazon recently launched the Amazon Smile program. When you shop at 0.5% of your purchase is donated to the charity of your choice. It’s the exact same Amazon shopping experience with the exact same prices, you just get to support BBS research and treatment too.

Go to, search for Bardet Biedl Syndrome Foundation, and choose us as your designated charity. Then tell your friends and family to do the same before they do their Holiday shopping.

BBS Bracelets

But if you’re looking for a special gift that directly supports BBS, we’re now selling bracelets made by children with BBS and their siblings. Olivia Howard, a BBSFA member, is leading the effort. If you’d like to help out please contact Olivia. All profits from bracelet sales will go to the BBS Foundation. Check out the bracelets here.

BBS Weight Management Study

The BBS Family Association has partnered with the Marshfield Clinic to apply for a grant from the Patient Centered Outcomes Research Institute (PCORI) to study weight management in people affected by BBS. There is very little known about how people with BBS can effectively control their weight. Excess weight is a major contributor to illness in people with BBS and can be a barrier to enjoying life to the fullest for some.

PCORI was established by the US Congress as part of the Affordable Care Act. It funds research that addresses the questions and concerns most relevant to patients and caregivers. Certainly weight management in BBS is a major question and concern for many BBS families. Grants will be announced in April, but Dr. Haws and the Marshfield team are very optimistic that our proposal will make the cut. Stay tuned in the spring, as we hope to begin enrolling participants then.

CRIBBS Worldwide!

CRIBBS, the BBS clinical registry is off to a flying start. Not only have we been able to raise enough funds to accelerate the process of adding people to the registry, but now CRIBBS has received all the necessary approvals to include people who aren’t in the United States. Because there is personal medical information involved there are many steps of approvals required to reach this stage. Dr. Haws and his team have gone the extra mile to get it done this quickly. Being able to include people from all around the globe will make the BBS registry that much more useful to researchers.

If you know someone affected by BBS who hasn’t signed up for the registry yet, no matter where they are in the world, send them here.

Further proving the incredible job the CRIBBS team has done, the software developed for CRIBBS is now going to be used by other rare diseases for clinical registries. In other words, all the hard work and dollars invested in CRIBBS are already starting to change the world.

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!

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.

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.