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Welcome to the Dubowitz Syndrome Support Network

Research opportunities have increased over the past couple of years.

In the past, research for the cause/gene of Dubowitz Syndrome has been sporadic at best.  There are so few children with the syndrome, and even fewer that have been correctly identified.  The current criteria for correct identification is usually from a geneticist that has seen another child with it and your child fits over 60% of the characteristics. A 'definitive diagnosis' had been someone that has seen Dr. John Opitz at the University of Utah Primary Medical Center.  Dr. Opitz had more or less 'taken charge' of the syndrome here in the United States and has seen some of the children and collected blood samples from many of them for future research.  Over the past few years, Dr. Opitz has become more focused on what he considers the related FG Syndrome. Although many of us have seen him and had our children tested for this, a number of our kids do NOT have FG Syndrome as of this writing and are still using Dubowitz Syndrome our main diagnosis.

Dr. Victor Dubowitz, from the Imperial School of Medicine in London, England, is the person who first 'discovered' this syndrome.  He has also seen some of the children here in the United States as well as in the United Kingdom. He is semi-retired and sees very few patients these days.

As the years have gone on and Dr. Opitz has cut back on his schedule and now is only involved in research for children with FG Syndrome, several other geneticists have stepped up. There are now several other very qualified geneticists who can make a good guess of it, but currently there is no one test that determines Dubowitz Syndrome.

As a result of making some contacts at the Genetic Alliance Conferences over the years, The National Institutes of Health recently brought 2 Dubowitz families down to their complex in Maryland for full genomic sequencing in the hopes of finding the gene, but also for further, general genetic research. They are looking for a couple more families. The criteria to be a part of this study is that your child/family member have a 'definitive' diagnosis of Dubowitz Syndrome (and hopefully by Dr. Cox at Boston Children's Hospital, just for continuity). The NIH pays all expenses (travel, lodging, food, medical) and makes all the arrangements for your visit. You spend the most time with the genetics counselor(s) because since it is full sequencing, they are going to find EVERYTHING, and they need to determine what your comfort level is with the information that will become available. The child/family member may go through some other testing (neuro-psych eval, etc.) and the parents have to be willing to be tested as well. There are no guaranteed results from this study, but it's the best place to be involved for research! We thank the NIH for this wonderful opportunity. Their genetics staff and our researcher are great!

Dr. Gerald Cox at Boston Childrens' Hospital has graciously seen many of us over the past year and has taken an interest in this syndrome. We hope to continue this wonderful relationship and offer families a yearly chance to see him, usually in August. He now has many families with Dubowitz Syndrome in his caseload. Right now, he is definitely the doctor to see.

Since the cases are all so different and there are so few, one of the ways to encourage research is to band together with other groups that have similar symptoms.  The National Institutes of Health/Office of Rare Disorders encourages families to find other syndromes or conditions (such as eczema) that have a common thread and explore research that way.

This is an exciting time in the realm of genetics and research, just a couple of years ago Dr. Opitz and others announced the discovery of the gene/genes that are thought to be the cause of FG syndrome, originally though of as only occuring in boys, but now finding it in girls as well. He is quite sure that Dubowitz is related somehow and hopes to have some answers for those of us still waiting. The FG Syndrome Support Network is huge, and is a great place to be if you think your child may not quite fit the Dubowitz diagnosis. Please visit them at their website and join their listserv if you have specific questions about FG Syndrome and research associated with that.

See 'our favourite people' for more information on the doctors above and others who have been a great help and resource for Dubowitz Syndrome.

Federal research information on the internet, most of these offices have grants, some funds for research, and some conduct trials.

Orphan Drug Program at the FDA

Office of Rare Diseases at the NIH

Maternal & Child Health Bureau at HRSA

National Organization of Rare Disorders (NORD)

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