Natera, Inc. and the International 22q11.2 Foundation today announced that they have entered into an exclusive partnership to raise awareness about 22q11.2 deletion syndrome and the importance of early diagnosis. The partnership is designed to encourage scientific research, influence current medical practice and raise awareness among the medical community and general population. One of the most common human genetic disorders, 22q11.2 deletion syndrome (“22q”) occurs when a small piece of the 22nd chromosome is missing, and it can lead to severe clinical outcomes.
“The 22q11.2 deletion too often goes unrecognized by the medical community; the number of people walking around undiagnosed is staggering,” said Sheila Kambin, parent of a child with a chromosome 22q deletion and board chairman of the International 22q11.2 Foundation. “With increased awareness, we expect to be able to drive enhanced detection, treatment and care. The partnership with Natera will serve to enhance support for our families by building awareness in the community and improving fundraising efforts. Moreover, this partnership will provide access to a dedicated team of researchers, physicians and genetic counselors.”
The International 22q11.2 Foundation, Inc. is the leading organization focused on promoting awareness of 22q and supporting families affected by the disorder. The syndrome affects approximately 1 out of every 2,000 people, and it can cause heart defects, cleft palate, growth problems, immune system and endocrine abnormalities, developmental and speech delays, autistic behavior, ADHD, OCD, and in some older individuals, psychiatric illness. In the vast majority of cases, the disorder is not inherited from the parents, occurring instead as a de novo mutation. Although there is no cure for 22q, early diagnosis allows for timely medical interventions, which, according to the latest published clinical research, are likely to improve long-term outcomes.
“We are pleased to be partnering with an organization whose mission is to improve the quality of life for individuals and families affected by 22q,” said Matthew Rabinowitz, Ph.D., chief executive officer of Natera. “Natera and the International 22q11.2 Foundation share the philosophy that early diagnosis improves treatment and long-term clinical outcomes, and that together we can change medicine to improve people’s lives.”
Natera, a leading innovator in prenatal genetic testing, developed the Panorama™ test, which is a safe, non-invasive prenatal test (NIPT) that uses a maternal blood sample to screen for certain chromosomal conditions that may affect a baby’s health. Panorama can safely screen for many genetic conditions with high accuracy, including Down syndrome, Edwards Syndrome and Patau syndrome, and it is currently the only commercially-available NIPT that uses a SNP-based approach to screen for chromosomal abnormalities, including microdeletions like 22q.
The partnership will kick off on May 18th during “22q at the Zoo – World Wide Awareness Day.” Natera employees will join with members of the International 22q11.2 Foundation to gather at more than 90 zoo locations across the globe. This fourth annual worldwide event is designed to raise the profile of 22q among the general public and provide a forum for families affected by the condition to socialize and network.
To learn more about “22q at the Zoo,” please visit 22q.org or email: firstname.lastname@example.org.
Natera, Inc. is a genetic testing company that specializes in analyzing microscopic quantities of DNA for reproductive health. The mission of the company is to help families conceive and deliver. In pursuit of that mission, Natera operates a laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, Calif., providing a host of preconception and prenatal genetic testing services primarily to OBGYN physicians and in-vitro fertilization centers. In early 2013, the company launched Panorama™, a safe, simple test for pregnant women that screens for the most common chromosomal anomalies in a fetus as early as nine weeks of gestation. These tests were developed by Natera, and they have not been cleared or approved by the U.S. Food and Drug Administration (FDA). For more information, visit www.natera.com.
About The International 22q11.2 Foundation, Inc.
The International 22q11.2 Foundation was founded in 2003. The mission of the Foundation is to raise the public profile of chromosome 22q11.2 syndromes. The Foundation is made up of a group of parents and professionals who volunteer their time and talents to further promote awareness and connect families, healthcare providers, and teaching professionals with information and resources. They are responsible for organizing and executing educational and fundraising events and conferences. For more information, please visit http://www.22q.org.
Mike Hromadik, 858-442-2215
The International 22q11.2 Foundation, Inc.
Shelia Kambin, 215-370-6760