The National Center for Biotechnology Information’s Genetic Testing Registry currently lists 27 labs that test for MECP2 Duplication Syndrome.
The List of 27 includes labs located in the United States, Canada, Germany, the United Kingdom, Spain, Portugal, France, and Sweden. Since listing is voluntary and there are likely to be a number of other labs that currently due testing. As testing becomes commonplace the number of diagnosed cases is rapidly increasing.
This year’s recipient of the Dickson Prize in Medicine will go to Baylor College of Medicine’s Dr. Huda Zoghbi. The award, established by the Dickson Family through The University of Pittsburgh’s School of Medicine, goes to an outstanding American medical researcher to Medicine.cMany of the former recipients are also Nobel Prize laureates.
Dr. Zoghbi’s work has been essential in advancing our understanding of Rett syndrome and MECP2 duplication syndrome, among many other important achievements. Continue reading
Systemic lupus erythematosus (SLE) is an autoimmune disease that most frequently affects women between the ages of 15 and 35 but can affect both males and females of any age. It can be severe and life-threatening with periods of acute illness and remission.
Recent studies have suggested that the MECP2 gene the neighboring IRAK1 gene play a role in Lupus Continue reading
This entry starts a short series on bone density and risk of fractures in children and adults with MECP2 Duplication Syndrome. May be a good place to start is to say that bone density issues are not well recognized as a characteristic of MECP2 Duplication Syndrome. Nevertheless there are a number of reasons to suspect that bone density issues and fractures are special concerns for individuals with MECP2 Duplication Syndrome.
First, in May 2011, when families got together in Houston for the first MECP2 Duplication Syndrome Family Conference, Continue reading
Back when I was going to school, I learned that on average every human being is a carrier for about 8 different genetic defects. That was a long time ago, long before many modern advances in genetics including mapping of the human genome. We now know that most people are carriers of at least 400 genetic variants, and this number is likely to increase as genetic science progresses. Continue reading
There has been a great deal of concern about “the removal of Rett syndrome” from the DSM-V. For those who aren’t familiar with the DSM, it is the Diagnostic and Statistical Manual of the American Psychiatric Association. Here is the issue: The DSM-IV had a category called Autism Spectrum Disorder. It included Autism and a few other things that were not exactly autism, but shared some features of autism. Included in the Autism Spectrum Disorder was Rett Syndrome. So it defined Rett syndrome as part of the spectrum but different from AUTISM itself. The new definition makes no mention of Rett syndrome and many people interpret that as saying that Rett syndrome has been taken out of the DSM. Continue reading
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3′ untranslated region in the MECP2 duplication phenotype
Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski and Sau Wai Cheung
A new report published in BMC Medical Genetics describes a family including a father and daughter with a small Xq28 duplication including part of the MECP2 gene. This report includes several interesting findings. Continue reading
Here is a truly great resource. From Unique in the UK. The Unique organization describes themselves as follows: Continue reading
This diagram represents a map the X Chromosome.
The specific colors don’t represent anything except Continue reading
Last week there was a conference call that involved Physician and researcher Melissa Ramocki, Monica Coenraads from the Rett Syndrome Research Trust, and about 35 parents of children and adults with MECP2 Duplication Syndrome. The call includes a great summary of some of the current research. In spite of some extra noise in the recording it is well worth listening to. It is expected to be available on this link for another few weeks.