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Guidelines for genetic testing developed by professional societies may be more centered on the concerns of society members than the needs of the individuals and families that may undergo testing. This could be considered appropriate because it will be the healthcare provider who will assess whether to test; when to test; whom to test; and how to provide the right support, interpretation, and follow-up to the individual or family tested. Genetic testing requires guidelines because of the complexity of testing for the individual and his or her family. It also requires flexibility because context matters a great deal in genetics.

Their study, known as the Autism Genome Project (AGP), was conducted in two stages. The first stage of consisted of a genome-wide association study using genetic data from 1400 families affected by autism; the second stage checked the associations discovered in the first stage using the genetic data from an additional 1301 ASD-affected families and included another new genome-wide association study which combined the study subjects from both stages. When all the analyses were said and done, no SNPs (common genetic variations) were significantly associated with ASD. Furthermore, when some of the SNPs that had been identified in the first study as possibly associated with ASD were tested in the second-stage families, the associations failed to hold up.  This lack of common SNPs associated with ASD is both disappointing and enlightening. Knowledge of what is not true, paradoxically, is knowledge of what is true.  For instance, if I tell you that my pet Tyger is not a dog, you are one step closer to knowing Tyger’s a cat.  Most of science progresses through “not trues” — the failed hypotheses that bring us closer to real understanding. A perfect example of this mode of scientific progress is this recent genetic study.  Their lack of findings was quite a finding.

Genes in Life is a place to learn about all the ways genetics is a part of your life. On this site you will learn how genetics affects you and your family, why you should talk to your healthcare providers about genetics, how to get involved in genetics research, and much more!

The aim of GEMSS is to assure all children with genetic health conditions succeed in school-life. Children who have genetic conditions are members of neighborhood schools across the country. In fact, it is estimated that about 1 in 20 children have a genetic condition.  

The National Institutes of Health announced today that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests.

On 25 April 2013, Matthew State reviewed the genetic discoveries made over the past several years in autism research and addressed challenges in the path forward — from reliable gene discovery to an actionable understanding of the disorder’s molecular underpinnings. The talk is part of SFARI’s Autism: Emerging Concepts lecture series. You can watch a complete video recording of the event above. Use the comments section below to discuss the lecture and pose follow-up questions.

What: Do you need to know more about how to promote successful outcomes for your students in the area of math skills? Come to the MASP Summer Institute to discover how to apply recent research findings in your classroom. Learn the essentials of math preparation that we now know underlie proficiency in mathematics, including the importance of effective instruction. Find out the implications for identifying mathematics disabilities and for planning intervention. This is an important conference because there is a great deal of new evidence about how to foster the acquisition of good math skills, information that is not widely known yet. This will be one of the first opportunities that most people in our audience will have to learn about current knowledge on how children learn mathematics and how that learning can go wrong. Presenter One of the world's leading authorities on how children develop understanding of mathematics, Michèle M.M. Mazzocco is a professor at Johns Hopkins School of Medicine. She is the principal investigator for the Math Skills Development Project at the Kennedy Krieger School. With Daniel B. Berch, she is the co-editor of Why Is Math So Hard for Some Children?: The Nature and Origins of Mathematical Learning Difficulties and Disabilities, a respected book that provides, in the words of one fan, "an exceptional review of literature on LD in maths." Dr. Mazzocco initiated the Math Skills Development Project in 1997, through which she has followed a group of students from kindergarten through 9th grade (so far!). This project involves an extensive study of normally developing children, children who have learning disability not associated with a genetic condition, and children who have genetic conditions that are known to contribute to math disability. The focus of the research is to seek an understanding of how cognitive, behavioral, and genetic factors contribute toward successful mathematics achievement. Dates and Times: June 12, 13, and 14, 2011 Registration opens at 5 o'clock on Sunday evening, June 12, 2011. The conference begins at 6:30 on Sunday evening and concludes for the evening at 9:30. On the following days, June 13 and 14, the conference continues from 8:30 am to 4:00 pm. The doors open at 8 o'clock each morning. Location: Hilton Garden Inn, Billings Treasure State Salon A & B 2465 Grant Road, Billings, Montana, USA 59102 (near Costco and Best Buy) Tel: 406-655-8800 Fax: 406-655-8802

Long thought to be caused by problems at birth, researchers now say that in most cases cerebral palsy may actually originate in a person’s genes much like other developmental disabilities. The finding, reported online in the journal The Lancet Neurology in January, comes as cerebral palsy rates have remained steady for over 40 years despite marked progress in medical care during and after birth, the researchers note.

Click here to register for this webinar What: Have you ever searched online for health information and become overwhelmed by the volume of information that’s out there? We’re constantly inundated with information from a variety of sources with a great range in accuracy, reliability, and value. We’ve got a tool that can help! Attend this webinar for a hands on and interactive session exploring the Trust It or Trash It? tool. We’ll look at some websites together and leave plenty of time for discussion. When: Wednesday, May 25, 2011 10:00 a.m. - 11:00 a.m. Mountain This webinar will be limited to 25 participants and the phone lines will be open, so register now! Presenter: Amelia Chappelle – Genetics Resources and Services Specialist, Genetic Alliance Melissa March – Associate, Innovation Network Go to http://www.geneticalliance.org/webinars to register now!

Autism is an environmental illness -- at least in some cases. Just as lead paint chips can cause learning disabilities and radon in the basement can cause lung cancer, certain chemicals and other outside influences seem to help set autism in motion. But autism is also a genetic disease. It definitely runs in families, and scientists have identified several specific genes that put kids at risk.

Most of the genetic risk for autism comes from versions of genes that are common in the population rather than from rare variants or spontaneous glitches, researchers funded by the National Institutes of Health have found. Heritability also outweighed other risk factors in this largest study of its kind to date. About 52 percent of the risk for autism was traced to common and rare inherited variation, with spontaneous mutations contributing a modest 2.6 percent of the total risk.

I started Hopeful Parents, a grassroots community where parents who understand what it's like having a child with special needs can connect. Consider it a pit-stop in the marathon -- where we can go for attention to our wounds, where we can re-energize our way back on track, where we can look right and look left to see others running too, where we can hear the roar of the crowds cheering us on. Hopeful Parents is a place of common ground. We'll introduce you to our diverse pool of talented, thoughtful writers who will share their stories, their feelings, their ups and their downs. You'll meet parents raising children with physical, psychological, emotional, neurological, sensory, behavioral, social, genetic, and developmental disabilities. Some parents are single, some are married. Some grieve the loss of their child; some grieve the loss of their spouse. You'll also meet healers -- the "medics" who help us through our run. People we can turn to in our pain; people who can help provide some relief.

This video is the second in a series of webinars on topics of interest to the autism community. It captures the webinar presented by Dr. Raphael Bernier, an autism researcher at the University of Washington in Seattle, in which he presents an overview of the wide variety of autism treatments in use, and the evidence that we have (or don't have) regarding the effectiveness of these treatments. In addition to his research into autism genetics and neurobiology, Dr. Bernier is involved in a nationwide network in the United States that is establishing treatment standards for individuals on the spectrum.

Welcome to the Federation's 2013 Summer Fun Camp Directory. Here you will find links to over 200 camp Web sites serving children with disabilities, as well as useful information and resources to help create a rewarding summer camp experience for you and your child. Choose from the links below to get started. Download useful information and resources, Summer Planning for Children with Special Needs (PDF), or print a copy of the camps links and summer planning resources, 2013 Summer Fun Camp Directory (PDF).

This knowledge path directs readers to current, high-quality Spanish-language health resources for health professionals and families. The knowledge path has been developed by the MCH Library at Georgetown University and will be updated periodically.

ATLANTA (AP) -- More than $1 billion has been spent over the past decade searching for the causes of autism. In some ways, the research looks like a long-running fishing expedition, with a focus on everything from genetics to the age of the father, the weight of the mother, and how close a child lives to a freeway. That perception may soon change. Some in the field say they are seeing the beginning of a wave of scientific reports that should strengthen some theories, jettison others and perhaps even herald new drugs.

Social Security launched the Compassionate Allowances program in 2008 with a list of 50 diseases and conditions.  The announcement of 52 new conditions, effective in August, will increase the total number of Compassionate Allowances conditions to 165.  The conditions include certain cancers, adult brain disorders, a number of rare genetic disorders of children, early-onset Alzheimer’s disease, immune system conditions, and other disorders.  In his speech that opened the Congress, Commissioner Astrue thanked the National Institutes of Health for research they conducted which helped identify many of the conditions added to the list.