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!

Fellow Bloggers

Happy Wednesday, everyone!!

So, today, I thought I would highlight some other blogs that you might be interested in...I've pulled together a list of personal blogs from families with chromosome 18 changes. They are simply fantastic. The photos are wonderful, and the writing is beautiful and honest. I highly recommend taking a few minutes to get to know them. I know I've enjoyed it!!

The list appears on the right side of this blog page...

Oh, and if you happen to have a blog and wouldn't mind being listed, please just leave a comment here, and I'll link it!

Clarification

When families first contact the Registry or the Clinical Research Center, they may be confused about the relationship between the two. I know that this topic is discussed in various places on the respective websites of the two organizations, and that it is also frequently discussed at the Annual Conference. Still, as I was writing yesterday's post, I realized that I was talking about both the Registry and the Research Center, almost interchangeably! So, I thought this might be another good opportunity to give the a basic run-down on the two organizations.

The Chromosome 18 Registry & Research Society

The Registry is the advocacy organization. It was started by families of people with chromosome 18 changes, and it continues to be run by these families. The Registry hosts the Annual Conference. The regional groups host family gatherings and events. The Registry also raises funds for research. Families hold individual fund-raisers, while the Registry office organizes events such as the Phantom Tea and the Golf Tournament. The Registry also runs the listservs for the various conditions involving chromosome 18.

The Chromosome 18 Clinical Research Center

The Research Center is the scientific organization. The people who work at the Research Center come from a variety of professions. We have nurses, physicians, psychologists, and lab technicians. The research team is dedicated to learning more about chromosome 18 changes. We want to learn about how these changes affect people's health and development. We also want to learn about the changes at the molecular level. Our ultimate goal is to learn about the relationship between the precise molecular change and the medical and developmental concerns in people who have these chromosome changes.

Now, although the Registry and the Research Center are two separate organizations, they are very interconnected. The funds that the Registry raises support the work at the Research Center. Many families that are part of the Registry also participate in the studies at the Research Center. Also, a few of us work with both organizations. For example, most know that Dr. Jannine Cody is the director of the Research Center, but also that she is the president of the Registry. As for me, I work mostly with the Research Center, but I also coordinate the Registry's Facebook page as well as this blog.

For families, I think the most important thing to understand about this arrangement is that membership in the Registry does not mean that a family is automatically enrolled at the Research Center, and vice versa. Of course, the degree to which each family participates in the two organizations is completely up to them!

Hopefully, this might help clear up any confusion that might be out there about the two organizations!

Busy, busy times!

I have to begin this blog post by apologizing for the lack in posting these past few weeks. It has been a busy time around the offices of the Registry as well as the Clinical Research Society. Here's a snapshot of some of the most recent things that have been keeping us occupied and out of trouble!

• We have completed the Research Center's annual newsletter! For those people enrolled in the research study, you should be seeing it in your mailbox in the near future.

• We just learned that our paper on autism and 18q- has been accepted for publication! This paper identifies several new candidate genes that may contribute to autism. We've gone through several rounds of revisions on this one, and we're excited to see it in print in the near future!

• Many of you may know Bridgette Soileau. She used to work as the patient coordinator before she became a Research Area Specialist - Associate. Her area of specialty: Neuropsychology! Well, this past week-end, Bridgette graduated with her MA in School Psychology from Trinity University! Here's a photo of the happy grad with two of her work colleagues, Patty and Mimi!

• I've been prepping to present our data on the clinical features of 18p- at the European Society of Human Genetics

• Dr. Cody just came from the Society for Pediatric Research meetings in Vancouver.

• It has also been a busy time for the Registry office! The annual Golf Tournament is coming up on May 22nd. Also, the preparations for the 2010 Annual Conference are underway!

And those are just the things that came to me from the top of my head! As always, we have been bringing people down to San Antonio; making calls to collect more data; running experiments; interpreting results; enrolling new families; writing abstracts and manuscripts; coming up with ideas for new research directions; and looking for funding. As the title of this post says, it has been busy within the walls of the Research Center as of late!

The Neverending Wait

Within the Research Center, we’ve been working on the 2010 newsletter. We expect it to go out in a few weeks! Hoorah!

We feature an interview with one of our laboratory technicians, who answered the question, “What is the hardest part of your job?” I’m not going to steal her thunder by telling you her response. However, it did get me to thinking about this question, and how I would answer it.

I love my job. I work with fantastic families. The team at the Research Center as well as at the Registry is great. I am able to work on several different types of projects, which always keeps things interesting. I find my job to be very rewarding, intellectually and emotionally. I consider myself very lucky to be working here!

I think that possibly the most challenging part of the position, though, is the waiting. Research is such a long process. You start with a research question. Then, it is a matter of finding the funding to answer the question. Once we get the funding, then it is time to collect the data. Sometimes, this means bringing families to San Antonio. For other studies, we send out surveys to the membership and wait for the surveys to be completed and returned. We may need to interview many families, which can be difficult if they are hard to reach via telephone or email. If labwork is involved, we must order the supplies, run the experiments, and sometimes re-run the experiments if they didn’t work the first time around. Then, it is time to analyze the data. No small step!!

Once the data is analyzed, and we understand what the data is telling us, we can finally write up a scientific paper. This can also be a lengthy process, as it is sent around to authors for multiple rounds of editing and approval. Then, at long last, we are able to submit the paper to a scientific journal! At that point, the process is out of our hands for several weeks or months while the journal’s editors review the paper and decide whether it would be appropriate to publish. Typically, the editors will send the paper back to us with some suggested revisions, which may include more data collection or analysis. We revise the paper,run some more experiments, then re-send it to the editors. Again, we wait until we hear whether it was accepted for publication. If it is accepted, there are another few rounds of edits as we look for typos, misprints, and so forth. Once we have gotten the paper to its final form, it is frequently several months until the paper comes out in the journal.

Of course, sometimes the paper is not accepted for publication. Sometimes this is because the editors don’t feel the paper is a good fit for the journal. Sometimes, it is because they feel we need more data. Sometimes, we’re not completely sure why it wasn’t accepted. At this point, though, we return to an earlier stage in the research process.

So, while I love the work that we do, and I think it is very important, it can be very hard to have to wait for the scientific process. I know that families have expressed feeling the same way about research!! It would be so fantastic if we could just ask the question and have it answered within a few weeks! Unfortunately, that’s not how good, reliable, useful data is collected. It is a slow and often frustrating process. But, rest assured that we’re working, even if it does sometimes seem like things are taking forever!

On a completely unrelated note, I am, again, unable to post a photo of a Registry mug in Warsaw Poland. I’m afraid that I am not sure where, exactly, the photo went, as it was not on the camera card after all! When I AM able to find it, though, I will certainly post it here!

Springtime in Germany

Before I get on to my actual post for this week, I would like to first suggest that you take a look at the comments from last week's post. Several people included links to their own personal blogs, and I loved reading through them. They are some great blogs. Don't miss them!! I am thinking a blog-roll of chromosome 18-themed blogs might be in order...

Now, on to today's blog post. I had INTENDED to make it a follow-up to my initial post about my pledge for the Registry's birthday. I want to take pictures of Registry items in various places. Why? Well, I don't really have a good reason, other than I love to travel, and I love the Registry.

The first picture was going to be posted today. It was taken in Warsaw, Poland a few weeks ago, and I just haven't posted it yet. And I won't be posting it today. You see, it is still on our camera's memory card. Which is still in our camera. Which is (presumably) in my husband's pocket. Who is currently on a Soviet-era train in Ukraine. It is a long story, involving an Icelandic ash cloud and an unexpectedly lengthy business trip to Kiev.

The end result: I don't have access to the picture of my Registry coffee mug in Warsaw. So, instead, I decided to take a picture of said mug here in Germany. This photo was taken in our backyard. I was trying to also get a picture of the autobahn in the background, but I think that effort was an epic FAIL. The only way you would know that it is the autobahn is if I told you that white splotch to the left of the mug is a semi-truck.


I think it is clear that I was never meant to be a photographer.

Anyway. Assuming the camera and its memory card appear at some point in the near future, I'll post another photo of a Registry item in a unique place. In the meantime, if anyone out there has photos with Registry paraphernalia from around the world (be it in the US, Finland, New Zealand, UK, South America) and would like them featured on the blog, send them my way at seboldc@uthscsa.edu!!! Traveling and learning about other places in the world is my very favorite hobby, and it is ALWAYS interesting to see where people are from or where they have been! In June, I'm traveling to Sweden for the European Society of Human Genetics Meeting (presuming that Icelandic volcano chills out a bit!) I'll definitely be taking some Registry pictures there!