Today’s issue of the American Journal of Human Genetics (AJHG), describes what might be a corner piece of the autism puzzle—the identification and subsequent validation of a gene linked to the development of autism by three separate groups of scientists. An accompanying commentary by Dr. Dietrich Stephan, Director of the Neurogenomics Division at the Translational Genomics Research Institute’s (TGen), further explains the findings.
Autism is a perplexing disease whose cause remains unexplained. It has long been suggested that environmental factors, linked with genetics, play a role in causing the disorder. As recently as last week, researchers in California published a study that found no proof linking autism with a mercury-based preservative found in childhood vaccines. While there are no clear-cut answers, researchers are one step closer to understanding autism’s genetic cause.
In March 2006, Dr. Stephan, Director of TGen’s Neurogenomics Division, led a team of researchers at TGen and collaborators at the Clinic for Special Children (CSC) in Strasburg, PA, that identified a gene called CNTNAP2. When mutated, this gene indicated a predisposition to autism in a specific population of Old Order Amish children from Pennsylvania.
One of the most important principles in science is the ability to replicate results. Now, three groups of researchers from Yale University, the University of California, Los Angeles, and the Johns Hopkins University, have replicated the initial finding in the general population, unequivocally implicating this gene as causing the newly defined Type 1 autism. All three studies plus Dr. Stephan’s commentary are published in the January edition of AJHG.
According to Dr. Erik Puffenberger, Laboratory Director of the Clinic for Special Children, “Our previous finding of association between loss of CNTNAP2 function and autistic behavior has been validated in the general population. This is a very exciting step for autism research. It also highlights the enormous potential of the ‘small science’ approach. Our initial work used only four affected Amish children. Careful study of these four patients uncovered the association between CNTNAP2 and autistic behaviors. From that small beginning, CNTNAP2 has now been implicated as a significant risk factor for autism.”
Autism spectrum disorder (ASD) is a broadly used term for a set of developmental disorders that emerges in infants and young children. ASD impairs a child's intuitive thought, language and social development to varying degrees. Most individuals diagnosed with ASD require lifelong supervision and care; the most severely affected are unable to speak. ASD is the fastest growing developmental disability in the U.S. Two decades ago, roughly one child in 10,000 was diagnosed with ASD; it now affects one in 150 births.
“The field of genetics is replete with examples where researchers are unable to reproduce results. Here we have independent confirmation in multiple groups using large samples sizes,” said Dr. Stephan. “Now that the results of the initial CNTNAP2 gene finding have been replicated, it strongly supports the notion that the ‘broken version’ of CNTNAP2 is recognized as a cause of autism in the general population.”
In collaboration with the Phoenix-based Southwest Autism Research & Resource Center (SARRC), a nonprofit community-based organization dedicated to research, education and resources for individuals with ASDs and their families, TGen will apply these research findings to children in Arizona who have been diagnosed with ASD.
“The heterogeneity of the disorder has frustrated our past efforts in the search for causes of autism,” said Dr. Raun Melmed, medical director and co-founder of SARRC. “This exciting discovery will further our capacity to individualize approaches to the diagnosis and treatment of autism.”
The next step, noted Dr. Stephan in the commentary, is to develop a diagnostic to test for the CNTNAP2 mutation. If physicians could implement behavioral interventions early enough, children with autism may have a better chance of developing normally.
The initial discovery of CNTNAP2 in autism was published in the March 30, 2006, issue of the New England Journal of Medicine.
The Translational Genomics Research Institute (TGen) is a non-profit 501(c)(3) organization focused on developing earlier diagnostics and smarter treatments. Translational genomics research is a relatively new field employing innovative advances arising from the Human Genome Project and applying them to the development of diagnostics, prognostics and therapies for cancer, neurological disorders, diabetes and other complex diseases. TGen's research is based on personalized medicine. The institute plans to accomplish its goals through robust and disease-focused research.
About the Clinic For Special Children
The Clinic for Special Children was established in 1989 to provide early diagnosis, affordable laboratory services, and comprehensive medical and nutritional care for Old Order Amish and Mennonite children that suffer from genetic disorders. The clinic mission encompasses four aims: 1) Make high-quality medical care for special children accessible, affordable, and culturally effective; 2) Develop comprehensive methods of newborn screening and follow-up care for genetic disorders prevalent among the Plain people; 3) Develop practical clinical applications for modern molecular genetic technologies; and 4) Elucidate disease mechanisms for the purpose of improving patient treatment and outcome. Clinical work at the CSC is funded by private donations from individuals, foundation contributions, and an endowment fund established for this purpose. Many collaborating scientists and laboratories donate specialized services. The CSC receives no money from state or federal sources and is a private non-profit 501(c)(3) charitable institution.
Founded in 1997, the Southwest Autism Research & Resource Center (SARRC) is a nonprofit, community-based organization dedicated to autism research, education and resources for children and young adults with autism spectrum disorders (ASDs) and their families. SARRC undertakes self-directed and collaborative research projects, serves as a satellite site for national and international projects, and provides up-to-date information, training and assistance to families and professionals about ASDs. For more information about SARRC, call (602) 340-8717 or visit www.autismcenter.org.
A landscape of mammalian development
21.02.2019 | Max-Planck-Institut für molekulare Genetik
Atopic dermatitis: elevated salt concentrations in affected skin
21.02.2019 | Technische Universität München
Up to now, OLEDs have been used exclusively as a novel lighting technology for use in luminaires and lamps. However, flexible organic technology can offer much more: as an active lighting surface, it can be combined with a wide variety of materials, not just to modify but to revolutionize the functionality and design of countless existing products. To exemplify this, the Fraunhofer FEP together with the company EMDE development of light GmbH will be presenting hybrid flexible OLEDs integrated into textile designs within the EU-funded project PI-SCALE for the first time at LOPEC (March 19-21, 2019 in Munich, Germany) as examples of some of the many possible applications.
The Fraunhofer FEP, a provider of research and development services in the field of organic electronics, has long been involved in the development of...
For the first time, an international team of scientists based in Regensburg, Germany, has recorded the orbitals of single molecules in different charge states in a novel type of microscopy. The research findings are published under the title “Mapping orbital changes upon electron transfer with tunneling microscopy on insulators” in the prestigious journal “Nature”.
The building blocks of matter surrounding us are atoms and molecules. The properties of that matter, however, are often not set by these building blocks...
Scientists at the University of Konstanz identify fierce competition between the human immune system and bacterial pathogens
Cell biologists from the University of Konstanz shed light on a recent evolutionary process in the human immune system and publish their findings in the...
Laser physicists have taken snapshots of carbon molecules C₆₀ showing how they transform in intense infrared light
When carbon molecules C₆₀ are exposed to an intense infrared light, they change their ball-like structure to a more elongated version. This has now been...
The so-called Abelian sandpile model has been studied by scientists for more than 30 years to better understand a physical phenomenon called self-organized...
11.02.2019 | Event News
30.01.2019 | Event News
16.01.2019 | Event News
21.02.2019 | Life Sciences
21.02.2019 | Earth Sciences
21.02.2019 | Life Sciences