Category Archives: Administrative

Getting Back to Blogging

sleepThis is a short personal note. For anyone who might have missed these blog entries over the past months, I apologize. Starting this past spring, I have been having some health issues of my own. Dealing with these issues has taken up a lot of my time, and my energy level has been limited.

I am happy to say that I am doing somewhat better, and want to start posting again. Thanks for your patience. Time to wake up.

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PubMed: Finding studies

lightbulbAfter my last post, I heard from quite a few people asking how they could find MECP2 Duplication Syndrome research articles and some wanted to more specifically know how to find articles from specific countries. PubMed is a great tool for finding this kind of information and it is available for free to everyone thanks to the the United States National Library of Medicine, National Institutes of Health. For those interested in finding research articles who are not already using PubMed or other similar tools, here is some basic information to help get you started.

A good place to start is this PubMed web Page. This provides a search window and and lots of helpful hints and tutorials that can help you use this database to find the information you are looking for.

If you want to become an expert or if you get stuck, you can watch some of the tutorials, but most people can find what they are looking for if they dive right in and do some searching. So here is an example.

At the top of the page the search window looks like this.

Books Continue reading

Huda Zoghbi & Adrian Bird Honored

shaw31 May 2016 Today it was announced in Hong Kong that 2106 Shaw Prize in Life Sciences and Medicine will be shared by Professors Huda Zoghbi and Adrian Bird:

for their discovery of the genes and the encoded proteins that recognize one chemical modification of the DNA of chromosomes that influences gene control as the basis of the developmental disorder Rett syndrome.

We are extremely fortunate to have these outstanding researchers working on MECP2 related disorders. The Shaw prize is the latest in a long list of honors recognizing their contributions to the field.

Directory Photos: Family Talk Members

MECP2FTFBThis post is intended only for Members for the MECP2 Duplication Syndrome Facebook Family Talk Group. Group membership is limited to family members of individuals with MECP2 Duplication Syndrome

Our MECP2 Duplication Syndrome Facebook Family Talk Group Photo Directory currently includes photos and some information about 167 individuals.  It has been about a year since we invited photos, so I am renewing the call for photos at this time.

To include your child (who has this syndrome) in this album, please e-mail a photo to mecp2familytalk@shaw.ca
Please include the child’s name, date of birth, and the country where you live. If you would like, you are also welcome to include the names of family members, city and state,  date of diagnosis, and other relevant information.
If the pictured is deceased, you may choose to indicate when they passed away.

You can use the same e-mail address address to send a newer photo or update previous information, but only one photo of each individual will be included in the directory so newer entries will replace older ones.  NOTE: if you are updating a photo, you will probably need to include all the associated information as the previous information normally is lost when the old photo is replaced.

To view the directory album, you must be signed into facebook and be a member of the MECP2 Duplication Syndrome Family Talk Group. The directory album can be found at here.

 

Unity, Strength, Hope Conference

unitysh

This is a reminder about the upcoming conference on MECP2 related disorders in June. This event is really two conferences in one: (1) A family conference for those whose family members are affected by Rett syndrome, MECP2 duplication syndrome, FOXG1 syndrome, CDKL5 disorder, or other MECP2 related syndromes., and (2) a concurrent professional and research symposium on the same disorders. The conference will take place at the Eaglewood Resort in Illinois, June 22-24, 2016.

 

Family Talk Facebook Group

The MECP2 Duplication Syndrome Family Talk Facebook Group

MECP2 Duplication Syndrome Family TalkThis is a private Facebook group that links approximately 750 individuals from families affected by MECP2 Duplication Syndrome from around the world. Some members of the group are regular Facebook users while others become Facebook members solely to access the family talk group. Group members share practical information and social support.

Parents, Grandparents, Siblings, and  other relatives of children or adults with MECP2 Duplication Syndrome are welcome to join the group. Since family can be loosely defined, parents and guardians can choose to extend memberships to friends, caregivers, or others who they consider to be part of their families. Decisions about these “extended family members” are up to the parents or guardians of the individual with the syndrome.

Researchers or professionals in health, education, or other disciplines who are working in this field may request membership. These requests will be discussed among group members via the Facebook group, and approved only if their is strong support for confirming membership.

To join the group, you need to follow these steps: Continue reading

2015 Annual Report-Happy Holidays

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2015 has been a year of progress. There has been spectacular progress in research, families have worked hard to support these efforts, more families have been connected through the Facebook family talk site and other similar sites, and more children and adults have been diagnosed at earlier ages… including some prenatally.

Sadly, 2015 has also been a heartbreaking year. More children and adults  passed away, and many others underwent major health crises.

This year more than 8700 individuals accessed more than 14,000 pages on this website. These individuals came from 92 different countries. More professionals and members of the public are learning about MECP2 Duplication. For a complete annual report from this website, click on the link below.

Click here for the 2015 Annual Report

THE 401 PROJECT SURVEY

questionThe 401 Project coordinates efforts to raise money for research on MECP2 Duplication Syndrome. They are currently seeking input on the best way to communicate with affected families. Please consider filling out this short one-question survey. Most respondents complete this survey in less than 45 seconds. Thanks.

Where do visitors to the MECP2 Duplication Syndrome Blog site come from?

Each month, about 1000 pages on the MECP2 Duplication Syndrome Blog site are viewed by people from around the world. Since 25 February 2012, WordPress has collected data on countries of origin of visits to this website. In total, visitors from 128 countries viewed at least one page on this site. The following list is the number of pages viewed by country of origin of the viewer for the 26 countries with at least 100 pages viewed: Continue reading

2013 in review

The WordPress.com stats helper monkeys prepared a 2013 annual report for this blog.

Here’s an excerpt:

The concert hall at the Sydney Opera House holds 2,700 people. This blog was viewed about 12,000 times in 2013. If it were a concert at Sydney Opera House, it would take about 4 sold-out performances for that many people to see it.

Click here to see the complete report.