The Clock Might Be Ticking...

The following was written by the president of the Registry and director of the Chromosome 18 Clinical Research Center, Dr. Jannine Cody:

The Clock Might Be Ticking, but There Is Still Time

I often hear parents of older affected individuals say that they are working hard for the Registry to help those children yet to be born with chromosome 18 abnormalities. They don’t think there will be any research insights or treatments that will help their own children who are young adults. I admit to being the eternal optimist; if I were not, I would not be doing this. That being said, I really would not paint such a fait accompli picture. In the last decade, we have learned that the brain is more similar to the rest of the body than we thought. It was once thought that the brain never added new cells and that brain cells died without being replaced. Now we know that the brain, like the other organs of the body, is undergoing constant remodeling. Since this is such a new finding, we know very little about the factors that influence this remodeling. Still, some interesting things are beginning to emerge that might just give us some hope, where there was none before.

For example, scientists have created a mouse with the same genetic mutation that causes neurofibromatosis (NF). These mice have been found to have problems with attention, problem solving, and visuospatial skills. These are the same sorts of behavioral problems that many people with NF have. Studies have shown which chemical processes are different in this mouse’s brain. This new knowledge and understanding of the altered chemistry provided scientists with ideas about possible treatments. Studies showed that these treatments worked to improve the behavioral problems in adult mice with the NF mutation. However, the treatment did not affect normal mice. This indicates that the treatment is indeed specific for the neurofibromatosis-like defect (Costa et al., 2002; Li et al., 2005).

Similarly, scientists have created a mouse model that has many of the same genetic changes as people with Down syndrome. These adult mice experience behavioral and cognitive improvement when treated with a drug that specifically normalizes the abnormal chemistry in the brain. Again, the same treatment did not improve or change the behavior of the normal mice. This suggests that this treatment is specific to the chemical processes affected by Down syndrome (Fernandez et al., 2007; Rueda et al., 2008)

These are just two examples of genetic conditions that have shown behavioral or cognitive improvement in adult mice following treatment. Other examples are Rubenstein-Taybi syndrome, tuberous sclerosis, Lhermitte-Duclos disease, Cowden syndrome, Fragile X syndrome, Angelman syndrome, and Rett syndrome (Ehninger et al., 2008). These findings have created a radical shift in thinking about the ability of the adult brain to remodel. In turn, this suggests that we can treat adults with developmental disabilities.

We are far from knowing exactly which genes on chromosome 18 cause the majority of developmental disability. We are even further from having targeted treatments. However, have no doubts about it; this is the path we are on. There is still time to make a difference.

References

Costa RM, Federov NB, Kogan JH, Murphy GG, Stern J, Ohno M, Kucherlapati R, Jacks T, Silva AJ. 2002 Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature 415:526-530.

Ehninger D, Weidong L, Fox K, Stryker MP, Silva AJ. 2008 Reversing Neurodevelopmental Disorders in Adults. Neuron 60:950-960.

Fernandez F, Morishita W, Zuniga E, Nguyen J, Blank M, Malenka RC, Garner CC. 2007 Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nat Neurosci. 10:411-413.

Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, Cannon TD, Silva AJ. 2005 The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol 15:1961-1967.

Ruenda N, Florez J, Martinez-Cue C. 2008 Chronic pentylenetetrazole but not donepezil treatment rescues spatial cognition in Ts65Dn mice, a model for Down syndrome. Neurosci Lett. 433:22-27.

All Quiet on the Chromosome 18 Blog!

Well, it has been quite a long stretch since I last posted on this blog. However, there has been a good reason! The blogstress (myself) had a baby in mid-August! I've been on maternity leave since then. I'm scheduled to get back to business next week, however, and hope to begin posting regularly at that time. Thank you for your patience!!

In the meantime, though, Dr. Jannine Cody had written a guest post that I will post here next!

The Registry in Europe!

Recently, Registry families in Europe got together for the first ever European conference in Glasgow, Scotland. A news station did a feature on the conference! (Unfortunately, the website doesn't make the video available in an embedded format...You'll have to click the link to see the video!)

In the video, you might recognize a few familiar faces...Jannine Cody, President of the Registry and Director of the Chromosome 18 Clinical Research Center, attended the conference. Bonnie McKerracher, Secretary of the Chromosome 18 Registry & Research Society in Europe and organizer of this year's conference, also spoke a bit about the conference. And, if you watch closely, Rick Guidotti, photographer extraordinaire, puts in an appearance!

This is a great chance to highlight the Chromosome 18 Registry & Research Society in Europe. They've recently gone live with their website. They also have a Facebook group!

A Rather Funny Link

I have been considering and re-considering linking to something that I recently read. It was a guest post written at a blog that I regularly read. It cracked me up, but it is somewhat irreverent, to say the least. It was written by the mother of a child with Asperger syndrome. It is a response to people who say inappropriate things about/to her children.

Since it is fairly common for parents of children with special needs to be confronted with these kinds of situations, I decided to link it, with the disclaimer that that there is some very mild swearing. I'd give it a PG rating.

So, having said all that, I hope you enjoy!

A Rant from Special Needs MommyLand

Unbelievably Awesome People

Well, as many who read this blog are already aware, the Registry was one of the top 200 "vote-getters" in the Chase Community Giving Campaign, hosted on Facebook. You know what this means? It means that Chase is donating $20,000 to the Registry!!!

This was a true "grassroots" effort, organized by many of our members. Several people noticed that the campaign was going on, and alerted their friends, who alerted THEIR friends, who alerted THEIR friends, and so on and so on. People posted links on their blogs, sent emails, created "voting events", posted to their Facebook walls, and more. Thanks to their efforts, we moved from the very bottom of the list of charities to finish at #34. Dr. Cody recently received the confirmation email from Chase, and now we're just waiting to hear the final details of the donation.

So, here's a hearty THANK YOU to everyone who voted, who encouraged others to vote, who did anything to help in this effort. What a fantastic group of people we have !!!!

Speaking of fantastic people, the Registry's conference just ended a couple of days ago. From all the reports I've heard, it was a resounding success!! Unfortunately, I can't blog about it personally, as I was not there. However, I am hoping I can ask someone else to write up a little something, or, at the very least, share some photographs!

A Touch of Envy

As I write this, I know that many chromosome 18 families are converging on Tulsa, Oklahoma for this year's Registry conference. Unfortunately, for a variety of reasons, it is impossible for me to come along this year. In fact, I've only ever been able to make it to one conference. That was in 2007, when the conference was held in Anaheim. And it was AWESOME. I had such a fantastic time meeting so many people that I had only spoken with over the telephone or email. I loved seeing families hanging out poolside, in meetings, at dinner, chatting until all hours of the night in the hallways of the hotel...

For a better idea of what goes on at one of these conferences, you should check out this video, made at last year's Vegas conference...

Las Vegas 2009 from Thilo Eckoldt on Vimeo.

It is a great time, and I just wish I could be there again this year. Unfortunately, it is not to be. However, I just wanted to wish all that are heading to Oklahoma this week-end safe travels, and a WONDERFUL conference!! Take pictures, and share them, please!!!

Just a Few Clicks

I know that many of the people who follow this blog are also a part of the Registry's Facebook group, so many have already heard about this...

Just in case, though, I wanted to post an announcement that the Registry is in the running to win $20,000!! The Chase Community Giving Campaign is underway, and they are awarding a prize to the top two hundred vote-getting organizations. As I write this, we stand at #42, so if the contest were to end today, we would be an award recipient!

However, the contest doesn't end today. It ends on July 13th. So, there is still plenty of time for other organizations to campaign to get more votes. This is where you, dear reader, come in!!

If you are on Facebook, go here to vote in the campaign! You'll need to "like" the application, and then go through a couple of other steps to actually vote, but please don't let those extra steps put you off!! Every single vote counts!

If you're NOT on Facebook, this would be an EXCELLENT reason to join! Give us your vote, and invite your friends to vote for us, too! Imagine what we could do with $20,000!!

Once you vote, feel free to leave a comment on the page that talks about what the Registry means to you. Adding a personal touch to the page is a great way to encourage people to vote for us!