Check back often for more information about what’s happening with the International 22q Foundation!
Selfies, yes selfies, could help diagnose rare genetic disease
(posted March 31, 2017)
Researchers with the National Institutes of Health’s National Human Genome Research Institute (NHGRI)
successfully used facial recognition software similar to that found in airports and on Facebook to diagnose
a rare genetic disease called 22q11.2 deletion syndrome using photos alone.
Genetic Drivers of Kidney Defects in the 22q11.2 Deletion Syndrome
(posted March 20, 2017)
Lead researcher and nephrologist, Simone Sanna-Cherchi, MD from Columbia University, in collaboration with mouse geneticist, Bernice Morrow, PhD, from the Albert Einstein College of Medicine, and Director of the 22q and You Center, Donna McDonald-McGinn, MS, LCGC, from the Children’s Hospital of Philadelphia, among others, recently reported an important link between three genes within the 22q11.2 deletion and development of the kidney and urinary tract, in a paper published in the prestigious New England Journal of Medicine. In fact it appears that loss of one gene in particular, Crkl, alone is enough to cause kidney differences. In addition to understanding much about these genes, found within a small area of the deletion known as the C-D region, importantly Dr. Sanna-Cherchi identified chromosome 22q11.2 deletions in 1.1% of 1,093 patients who were followed in kidney clinics for small or absent kidneys, as well as in 0.01% of 22,094 controls – individuals without any specific medical problems. Although these patients were unaware that they had the 22q11.2 deletion, some later reported having symptoms commonly associated with the 22q11.2 deletion. Significantly, this serves to highlight the frequency of the deletion and the fact that there are likely many many patients in our own communities who have not yet been diagnosed with 22q11.2 deletion syndrome due to the fact that they don’t have congenital heart disease as a presenting symptom. This report certainly helps to support our plea for early identification using newborn screening! To view the whole article visit here
Transition Readiness and Quality of Life in Adolescents and Young Adults with 22q11.2 Deletion Syndrome
(posted September 12, 2016)
“Do you have 22q or DiGeorge syndrome or VCFS? Are you between the ages of 18-30? Please consider participating in the following research study (STU00203635)! All participants will have the opportunity to be entered into a lottery to win one of ten $30 Visa gift cards! For more information and to be directed to the online survey, please click on the link below.
Thank you for your time!” *
Attention Tooth Fairies
April 4, 2016
New research at the University of Tennessee shows that nerve cells can be grown from the dental pulp of teeth after they fall out. Nerve cells are the key cells that function in the brain. In some children, these cells are affected by a missing section of chromo- some 22. This missing section called the 22q11.2 deletion can lead to many serious health problems.
Your child’s lost teeth may be the key to understanding how the deletion affects these important cells.
Nationwide Children’s 22q Webinar Series
Neuropsychological Evaluation of Children with 22q11.2 Deletion Syndrome
April 14, 2016 7-8:30 pm
Webinar will include a discussion of the role of the pediatric neuropsychologist in the evaluation and management of patients with 22q11.2 deletion syndrome. The neurocognitive, learning, mood and behavioral difficulties typical of children affected by this syndrome will be reviewed as well as the recommended timing for baseline and repeat neuropsychological evaluation. Standard components of a neuropsychological evaluation, including types of tests that families can expect their child to undergo, will be discussed. Finally, a discussion regarding common types of interventions for the educational and outpatient medical setting will be provided.
Register here: http://events.nationwidechildrens.org/ei/getdemo.ei…
New Website to help families navigate the Achieving a Better Life Experience (ABLE) Act, USA
The website includes information about the law, ABLE accounts, who qualifies and the particulars of each state’s legislation.
The Achieving a Better Life Experience (ABLE) Act, a federal law signed in December of 2014, will give many individuals with disabilities and their families the opportunity to save for the future and fund essential expenses like medical and dental care, education, community- based supports, employment training, assistive technology, housing and transportation. The law allows eligible individuals with disabilities the ability to create “ABLE accounts” which resemble the qualified tuition programs, often called “529 accounts,” that have been established under that section of the tax code since 1996. By saving for and funding critical daily expenses, these ABLE accounts will give US citizens with disabilities increased choice, independence, and opportunities to participate more fully within their communities.
Learn more here: http://www.ablenrc.org/
Summary of 22q11.2 Community Survey Results
In October of 2015 the International 22q11.2 Foundation published an online survey as part an effort to better understand and meet the needs of the worldwide 22q community. Sadly, earlier in the year, two other national organizations for 22q closed. Understanding that the loss of these two organizations would have a significant impact of the flow of information to families, the International 22q11.2 Foundation prepared to adjust its priorities in order to address these changes within the 22 community. As part of our process, we created a 22q community survey.
Resources for Teens and Adults
Many potential challenges exist for parents as they help guide their adolescent or young adult child who has a 22q11.2 syndrome. The goal is to have him or her become capable and competent in making good life choices. New Transition Fact Sheets are designed for both parents/caregivers and other family members, including those with 22q11.2. The Fact Sheets cover Mental Health, Sexual Health and Alcohol.
Girl Scout Gold Award About 22q
Special Education Girl Scout creates a PSA about 22q Deletion Syndrome. She hopes to expand awareness about 22q and help families, educators and clinicians.
22q11.2 Deletion Syndrome Featured in Leading Scientific Journal
An extensive review of the 22q11.2 Deletion Syndrome was published on November 19, 2015 in Nature. Nature is a British interdisciplinary scientific journal which is highly regarded among leading researchers and has been ranked the world’s most cited scientific journal. This journal claims an online readership of about 3 million readers per month.
This is exciting because it brings focus and education about 22q11.2DS to the scientific community. In addition, the article supports many of International 22q11.2 Foundation’s initiatives such as “The Same Name Campaign”, early diagnosis, including newborn screening, and the importance of early intervention strategies.
Learn more here http://www.nature.com/articles/nrdp201571
From Perspectives in Genetic Counseling – a publication of the National Society of Genetic Counselors (NSGC)
“Having a child with a genetic syndrome that most people have never heard of can feel very lonely…” Read more
It had been two years since our last 22q conference in Dublin and my wife Colleen and I were keen to catch up with the latest developments… Read more
Worldwide Commitment to 22q11.2
October 23, 2015
The International 22q11.2 Foundation is committed to serving the worldwide community of families impacted by the 22q11.2 deletion or duplication. With the recent and unexpected closings of the Dempster Family Foundation and the VCFS Educational Foundation, we are more than ever determined to play a leading role in unifying the 22q community and to advancing knowledge and treatment. Please help us by completing this 5 minute confidential survey. We appreciate your feedback and ideas. Survey
Dempster Family Foundation to Close
October 16, 2015
Today, the International 22q11.2 Foundation learned of the closing of the Dempster Family Foundation. This unexpected news follows the recent closing of the Velo-Cardio-Facial Syndrome Educational Foundation.
First and foremost, the Foundation extends our deepest thanks and appreciation to Ryan and Jenny Dempster for their unwavering support and to their executive director, Michelle Breedlove-Sells, for her hard work and dedication. We owe them a debt of gratitude for their educational and awareness efforts.
It is now our responsibility to build upon the Dempster Family Foundation’s success and to unify the national and international efforts of all families impacted by the 22q11.2 deletion or duplication. It is also our responsibility to bring those families together with the many professionals working diligently on their behalf, to ensure that those professionals work collaboratively with other professionals, and to always keep the needs of families in the forefront of everyone’s efforts.
Just this year we launched our revamped 22q.org website and a new Family Support Network. Our 22q at the Zoo International Awareness Event was our largest ever and our organization’s staff and board are preparing a number of major initiatives for 2016 including an ongoing webinar series and a new push, through our Same Name Campaign, to once and for all clarify the naming of 22q11.2.
We look forward to continuing to serve the worldwide 22q community.
New finding regarding potential treatment of ADHD and anxiety and implications for 22q
The Children’s Hospital of Philadelphia, USA in conjunction with Medgenics has announced preliminary data regarding the treatment of ADHD and anxiety using precision medicine. The implications are far-reaching, especially for families affected by neoropsychiatric disorders and 22q11.2 syndromes.
For more information, click here to read the press release from medgenics http://globenewswire.com/news-release/2015/09/09/767050/10148706/en/Medgenics-Acquires-Phase-2-Ready-CNS-Program-NFC-1.html
New finding regarding potential treatment of ADHD and anxiety and its implications for the 22q Community. Read more
Conferences planned for families and professionals planned in the US and Canada
All of our upcoming conferences for families and professionals.
Prevalence of 22q11.2 Deletion and Duplication syndromes
A new study, recently published in Prenatal Diagnosis, and based on over 9500 prenatal testing samples, suggests a dramatic increase in our understanding of the prevalence of both the 22q11.2 deletion and duplication syndromes. A prevalence of more than one in one-thousand indicates that approximately 5 million or more individuals worldwide are impacted including more than 300,000 in the U.S.
22q at the Zoo Awareness in Central New York
News story highlighting our global 22q at the Zoo event in Central New York
ZooMontana hosts Montana’s first 22q at the Zoo event
Highlights from the 22q at the Zoo event in Montana.
Grey’s Anatomy Gets it wrong again. Misinformation about 22q.
Mother and advocate Nadine Miceli gives an interview in response to misinformation aired for the second time on Grey’s Anatomy.
Eight-year-old Vincent Drake is from Camp Hill. This story describes how Santa took the time to share with Vincent that he cares and that he also has medical needs.
Chairperson of the Foundation, Sheila Kambin describes her diagnostic odyssey of 27 specialists to reach a diagnosis of 22q.