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Check back often for more information about what’s happening with the International 22q Foundation!

Profs. Bruno Marino and Nicole Philip-Sarles honored with 2020 DiGeorge Medal

22q11.2 Society (22qsociety.org) announce Professors Bruno Marino and Nicole Philip-Sarles as joint recipients of the 2020 Angelo DiGeorge Memorial Medal of Honor.

Read full article here.

Empowering young women with the 22q11.2 Deletion Syndrome to share their lived experience and mental health support needs.

This research project aimed to address mental health support needs by offering a vehicle through which young people could communicate their lived experiences and service recommendations to parents, educators, researchers, service providers and policy makers. It also aimed to support the development of mental health resilience by providing space for young adults to share their stories of mental health challenges and recovery. Resilience was defined as ‘the ability to bounce back after times when you felt upset by your emotions, thoughts or relationships’.

Read more here.

22q at the Abilene Zoo

Thank you KTAB Abilene,Texas (Big Country) for shining the light on 22q at the Zoo!

Watch video here.

22q in the news!

Meet 6 year old Robert Romero from Minnesota. His dream to be a police officer when he grows up. He has collected hundreds of patches from police agencies across the country.

Read more here.

Shai Ben Yaacov

Living Musically with 22q

Thank you to Shai Ben-Yaacov, WHYY Producer and 22q Dad for shining the spotlight on our 22q friend and amazing young musical talent Todd Simpson!

Read more here.

Meet Conner — a young boy with 22q

Meet Conner — a young boy with 22q, found a best friend in a dog named Ellie, who also has her own special needs. Together they embody what unconditional love is all about.

Read more here.

Shai Ben Yaacov, a 22q dad and producer

Shai Ben-Yaacov, a 22q dad and producer of the nightly public radio show NewsWorks Tonight in Philadelphia, was on the air talking about learning of his son’s heart condition and subsequent 22q diagnosis. His son has Tetralogy of Fallot, the same condition Jimmy Kimmel just made famous in a widely shared clip about his newborn son.

“22q at the Zoo” raises awareness of genetic condition

Jennifer Leslie, WXIA article raising awareness for 22q in Atlanta, Ga.

Selfies, yes selfies, could help diagnose rare genetic disease

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.

Read more here.

Genetic Drivers of Kidney Defects in the 22q11.2 Deletion Syndrome

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

Read more here.

Mom donates 4,600 ounces of breast milk after her infant son’s death

When Riverdale, Utah, mom Nicura Thompson gave birth to her fourth son, Colton, on October 21, she knew he wouldn’t live a long life. She found out before he was born that he had DiGeorge syndrome — a chromosomal condition that can cause heart defects and problems with the immune system — and he wasn’t expected to live past his teens.

Read more here.

Readiness and Quality of Life in Adolescents and Young Adults with 22q11.2 Deletion Syndrome

“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!”

Link to survey here.

Attention Tooth Fairies

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.

Learn more here.

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.

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.

Read more here.

Dempster Family Foundation to Close

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.

Read more here.

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.

Press Releases

May 2015: 22q at the Zoo Awareness Day

January 2015: The International 22q11.2 Foundation is pleased to announce that Robert Miller has joined our team as part-time Acting Director. Robert brings over 40 years of experience to the role including nearly 14 years as Executive Director of the National Fragile X Foundation (NFXF). During his time at the NFXF, Robert was able to guide the organization from being a one-person office representing an unknown condition to a robust and internationally recognized organization that substantially improved awareness, diagnosis and treatment of Fragile X. We are looking forward to Robert bringing that experience to the 22q community and helping us with the many, similar challenges.

News Articles

May 2016: 22q at the Zoo Awareness – Alyssa Tholstrom holds her son Landon Tholstrom, 2, on her lap during 22q at the Zoo at Zoo Montana. Read full article here. 

May 2016:  22q at the Zoo Awareness – Jody Jones gives an interview regarding her son Caleb Jones and raising awareness for 22q. Read full article here.

November 2015: An 11 minute interview on Raising Awareness by Rebecca Osberg with Sheila Kambin, MD, Parent and Chair of The International 22q11.2 Foundation, Inc. http://www.raredisorders.info/Ro_-_Sheila_Interview__1_.MP3

September 2013: Parents say genetic syndrome 22Q lacks awareness

April 2012: 22q at the Zoo Awareness in Cincinnati – Bettsy Leech, Genetic Counselor at The 22q/VCFS center at Cincinnati Children’s  gives an interview with a parent named robin regarding 22q and our worldwide 22q at the zoo day.

May 2011: 22q at the Zoo Awareness  –  Former Chair of the Foundation, Carol Cavana gives an interview regarding 22q at the zoo and her son Louis.

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At the International 22q11.2 Foundation we help families that need important resources and information to meet the needs of loved ones with 22q.

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