Det kom en hälsning från Dr Grossfeld, som forskar om Jacobsens syndrom och som träffar massor av barn med denna diagnos som också är Johannas diagnos.
Dear 11q Families,
As 2011 draws to a close, I wanted to give you an update on our progress over this past year. Our research efforts continue to focus on understanding the genetic basis of congenital heart defects as well as the cognitive and behavioral problems in Jacobsen syndrome.
A couple years ago we published our paper identifying the ETS-1 gene as the cause of heart defects in Jacobsen syndrome. Over this past year we have been working on understanding the normal function of ETS-1 in heart development, and continue to make important strides. Most recently we have obtained evidence that ETS-1 has a critical role for maintaining a population of cells called the cardiac neural crest. These cells originate in the developing central nervous system and eventually help to form some of the final structures of the heart. We have observed that in mice that are lacking the ETS-1 gene, less cardiac neural crest cells make it to the heart (which is the likely cause of the heart defects) and instead, end up migrating to the head (We are also exploring whether this could contribute to some of the craniofacial problems that many of your children have). Interestingly, not all mice that are missing the ETS-1 gene have heart defects. We are very excited about this observation because it gives us a unique and powerful opportunity to identify the factor(s) that might be responsible for preventing these kinds of heart defects. We are embarking on a combined biochemical and genetic approach to identify this factor, and are very excited about how this knowledge could be applied to prevent some of the most common forms of heart defects in the general population.
This past year my post-doctoral fellow Dr. Maoqing Ye, who discovered the ETS-1 gene, accepted a faculty position to return to China. In his place, a new post-doctoral fellow has joined my lab, Dr. Yan Yin. In addition, in early 2012 a second post-doctoral fellow, Dr. Kazumi Fukatsu will be joining my lab. Dr. Fukatsu previously worked in the laboratory of my collaborator Dr. Marianne Bronner at The California Institute of Technology. Dr. Bronner’s lab independently discovered a very important role for ETS-1 in chick development. I am very grateful for all of Dr. Ye’s hard work in my lab over the past six years, and am excited to welcome my two new post-doctoral fellows who will continue to work on the ETS-1 project.
The other focus of my research has been on the cognitive and behavioral problems in Jacobsen syndrome. In collaboration with Dr. Sarah Mattson (San Diego State University) and Natacha Akshoomoff (UCSD), we have determined that autism and attention deficit disorder are common in children with Jacobsen syndrome. We have even identified a gene that we think is the likely cause of autism in Jacobsen syndrome. These findings will have important implications for your children, and will hopefully help us to learn more about the genetic basis of these problems.
Our previous work identified two genes that we believe contribute to the cognitive problems in Jacobsen syndrome: BSX-1 and Neurogranin. My collaborator in Germany, Dr. Matthias Trier, is the world’s expert on BSX-1 and has recently committed to continuing his research on understanding how the loss of BSX-1 causes cognitive delays. In addition, I have formed a collaboration with Dr. Alexey Terskikh from the Sanford-Burnham Institute in La Jolla to expand our research on the Neurogranin gene. This collaboration is focusing on determining whether increasing Neurogranin levels in the brain can improve learning and memory. This research could have huge implications not only for children with Jacobsen syndrome, but potentially for many other people that are afflicted with learning and memory problems, including those with Alzheimer’s Disease.
As you can imagine, none of this research would be possible without financial support. A year ago I was very fortunate to receive a two year grant from the Children’s Heart Foundation. As funding from the National Institutes of Health continues to decrease (only 10% of all grant proposals are funded), I have had to seek financial support from other sources. In 2011, four major fundraisers were held for our research. In May, my dear friends Randy Woods and Wendy Walker hosted their third annual fundraiser in San Diego. In October, led by Ashley Richard (wife of starting pitcher Clayton Richard), the San Diego Padres held a charity golf event for my research. In November, Craig and Rebecca Thomas along with the entire cast and crew of the How I Met Your Mother television series, hosted a fundraiser on the set of the show in Los Angeles. In December, Charity and Mike Stanfield held their second annual fundraiser for my research in Lafayette, Indiana. Thanks to these extraordinary people, and so many others that worked so tirelessly behind the scenes, enough money was raised to keep my lab running for the next year. My gratitude to all of these people goes beyond words! I am very hopeful that we can continue these efforts in the years to come, and to expand these endeavors. Without these incredible events, my research cannot continue.
Lastly, I want to thank all of you for your ongoing support. As you know, we will be hosting our 8th biannual 11q conference in San Diego June 27-July 1, 2011. It promises to be a very exciting and educational conference. Included in the program will be a panel discussion led by Drs. Marty Stein, Mattson and Akshoomoff to discuss and answer your questions about cognitive and behavioral problems in Jacobsen syndrome. It promises to be a very exciting and informative session.
Once again, I appeal to all of you to help me to continue to support this very important research. As parents of children with Jacobsen syndrome, you are empowered to make a difference! I wish all of you the very best for a happy holiday and healthy 2012, and look forward to seeing you in San Diego in June!
Paul Grossfeld, M.D.