Chromosome 18 in Sweden!

It has been a little while since I last posted here, but there's a very good reason! I've just returned from the European Society of Human Genetics conference in Sweden! I was very lucky to be able to represent the Chromosome 18 Clinical Research Center in Goteburg.

While I was wandering around the home of IKEA, it occurred to me that it might be fun to take a few pictures so that I can share the experience with everyone else!

I arrived at the bus/train station the day before the conference started up.


It was a quick 20 minute walk to my hotel. Nothing too fancy, but it was clean and always had Swedish meatballs available!!


It turns out the Swedes are nothing if not space-efficient! This is a photo of my hotel room:


As a side note, I was surprised at how many people mistook me for a native Swede and addressed me in Swedish! I couldn't help thinking about my favorite character from the Muppet Show...



In all seriousness, though, everyone I met in Sweden was wonderfully helpful, and wonderfully bilingual.

The day after I arrived in Sweden, I headed over to the conference center. Unfortunately, the weather was less than hospitable...Here's a view from the conference center's window:


At any scientific conference, there are always exhibitors and vendors, trying to sell you this microarray platform or a subscription to that scientific journal. However, I think this particular exhibitor deserves an "A" for originality!


Truthfully, some of their pieces were quite lovely, if somewhat nerdy...

Once I signed in at the registration desk, I was given the conference goody bag. You always get one of these bags, and it is usually filled with fliers and pens and programs, etc. Personally, I love the bag. It fits my laptop nicely, is very sturdy, and I think it makes me look uber cool.


Eventually, of course, it is time to get down to business!! This is the view from my seat at the opening address. It was a packed house!


Now, conferences such as this one are a great way to hear the latest developments in your field. Also, it is a very important opportunity to share your own research with other scientists. Most attendees do this by exhibiting a poster showcasing their research. This year, we presented a poster on the clinical features of individuals with 18p- whose breakpoint occurred at the centromere. Here's a photo of the poster exhibition area. In the center of the hall, you can see all of the vendors and exhibitors, selling their wares.


And here's the actual poster! If I'd thought about it, I would have gotten someone to take a picture of myself standing next to the poster. Oh, well. Next time!


I'm happy to report that we had several scientists come by and talk with me about our findings and share their experiences with 18p- (or other chromosome 18 conditions)! I'm hopeful that this not only got the word out about our research, but that it also raised awareness for the Registry!!

And of course, there were plenty of opportunities to learn the latest and greatest in the world of genetics. Hot topics this year were how to classify copy number variants found on microarray analysis and the latest technology in genome sequencing, known as "next generation sequencing".

And that's the report from Sweden! It was a good and productive time, and I'm very thankful I had the opportunity to attend the European conference!

10th Annual Golf Tournament

Today, we have a guest blogger! Claudia Traa wrote this great summary of this year's golf tournament, and she even included some pictures! Thanks to everyone who made this event a huge success!

Our 10th Annual Chromosome 18 Charity Golf Tournament was held on May 22, 2010. It was a wonderful event filled with familiar faces as well as new friends. We had 144 golfers and our entire Executive Board and one of our Extended Board members were present. Sammie Flowe, Liz Cody and Ross Traa were there, adding something special to everyone’s day. This was the third year we held the event at Canyon Springs Golf Club and it is a very picturesque venue. It is the epitome of Texas Hill Country with its wild flowers, waterfall, old barns and architecture, and real live longhorns. The pavilion, which is a large circular room with beautiful rafters and wood, housed the registration, breakfast, lunch, and awards reception. There was plenty of space in this one room for all of our golfers and our 25 volunteers.

For many of our volunteers, the day began at about 5:00 AM. After setting up and getting the golfers situated, we had our balloon release ceremony. As the golfers are all lined up in their carts, we call the names of children with a chromosome 18 syndrome who have died in the recent past. We also call the names of individuals who are connected to The Registry who have passed away. After their names are called, one of our board members or that person’s family member releases the balloon. Although the day was particularly windy, the balloons made their way up to the clouds. The golfers were read a quote from Helen Keller: “What we once enjoyed and deeply loved, we can never lose – for all that we love deeply becomes a part of us.” Then the golfers are sent off silently with the words: MAY OUR HEARTS AND SPIRITS RISE WITH THESE BALLOONS IN THEIR HONOR AND MEMORY.

This year we had a record amount of golfers and donors. Thanks to all of you who participated and helped the efforts here in San Antonio! We had 3 Gold sponsors, 2 Silver Sponsors and 20 Bronze sponsors. Sponsors get a wooden plaque with their logo and this year it had our kids’ pictures in the background. I should note that I do not pick these photos myself. Rick Guidotti takes them at our conference, and our PR/marketing community advisory board member chooses the photos and designs the plaque. Kudos to the 18q- and 18p- groups who started a “friendly” competition to raise enough money for a Hole sponsorship and each succeeded. You were a part of helping us raise about 52,000.00 (net)! After a small set back during last year’s economic turmoil, which interrupted our steady climb, we are back on track and this marks our best Chromosome 18 Charity Golf Tournament yet!!

Thank you to all of the folks who helped with silent auction items and prizes. We had one of our families underwrite 2 TV’s we used as prizes and another member donated some of her cherished memorabilia like an autographed Dawn Well’s cookbook (that’s Mary Ann from Gilligan) and some great Star Wars items. We had over 40 door prizes and silent auction items like Southwest Airline Tickets; JW Marriott hotel package; Peyton Manning, Earl Campbell, and Lou Holtz memorabilia; artwork; a diamond necklace; and more! Many of the golfers came up to us after and said they couldn’t wait until next year. We always try to have a little something different each year to keep things fresh. This year we had one community advisory board member get his new company Dulce Vida Tequila, to donate a margarita machine next to one of the holes. That helped our golfers cool off quick. Either that or they just “forgot” how hot they were. Our San Antonio Spurs Coyote was also on hand for some comic relief.

The golf tournament is a lot of work but when everything comes together and is successful for The Registry, it is all worth it. Raising money for The Chromosome 18 Registry, means helping our children, adults, and families by getting us a little closer to finding the answers we need. So be thinking how you can be a part of this event next year. Our 11th Annual Chromosome 18 Charity Golf Tournament will be held on Saturday, May 14 at Canyon Springs Golf Club. Take a look at these great photos from the tournament!

Claudia Traa

18p- families, showing their support:


18p- plaque!


18q- plaque!


All smiles!


Claudia and Jannine, striking a pose:


Jannine and Gloria (shortly before she become a grandmother, again!)

Before the Balloon Release:


Ross speaking:


In memory:


On the course:


In the rough...


The Coyote shows some support:


Thumbs up!