Autism spectrum disorders
People Read Facial Expressions Differently
Posted on by Dr. Francis Collins
Credit: Lydia Polimeni, NIH
What do you see in the faces above? We constantly make assumptions about what others are feeling based on their facial expressions, such as smiling or frowning. Many have even suggested that human facial expressions represent a universal language. But an NIH-funded research team recently uncovered evidence that different people may read common facial expressions in surprisingly different ways.
In a study published in Nature Human Behaviour, the researchers found that each individual’s past experience, beliefs, and conceptual knowledge of emotions will color how he or she interprets facial expressions [1]. These findings are not only fascinating, they might lead to new ways to help people who sometimes struggle with reading social cues, including those with anxiety, depression, bipolar disorder, schizophrenia, or autism spectrum disorder.
Resurgence of Measles, Pertussis Fueled by Vaccine Refusals
Posted on by Dr. Francis Collins
Credit: Centers for Disease Control and Prevention
I was born in 1950 and was home-schooled until the 6th grade. Thus, I missed exposure to several childhood illnesses that affected most of my generation. I never gave it much thought until, as a medical resident in North Carolina in 1979, I came down with a potentially life-threatening febrile illness that required hospitalization. Only after four days of 105 degree fever did a rash appear, and the diagnosis was made: measles. That was the sickest I have ever been. It turned out that one of my daughter’s school friends had developed measles in a small outbreak of unvaccinated kids in Chapel Hill, and I had been exposed to her. I was born too early to have been vaccinated.
But for most people born in the United States after the 1960s, they have never had to experience the high fever and rash of the measles or the coughing fits of pertussis, commonly known as whooping cough. That’s because these extremely contagious and potentially life-threatening diseases have been controlled with the use of highly effective vaccines and strong vaccination programs. And yet, the number of Americans sickened with measles and pertussis each year has recently crept back up.
Now, an NIH-funded report confirms that many of the recent outbreaks of these vaccine-preventable diseases have been fueled by refusal by some parents to have their children vaccinated [1]. The findings, published recently in JAMA, come as an important reminder that successful eradication of infectious diseases depends not only on the availability of safe and effective vaccines, but also on effective communication about the vaccines and the diseases they prevent.
Exploring the Complex Genetics of Schizophrenia
Posted on by Dr. Francis Collins
Credit: Jonathan Bailey, National Human Genome Research Institute, NIH
Schizophrenia is one of the most prevalent, tragic, and frustrating of all human illnesses, affecting about 1% of the human population, or 2.4 million Americans [1]. Decades of research have failed to provide a clear cause in most cases, but family clustering has suggested that inheritance must play some role. Over the last five years, multiple research projects known as genome-wide association studies (GWAS) have identified dozens of common variations in the human genome associated with increased risk of schizophrenia [2]. However, the individual effects of these variants are weak, and it’s often not been clear which genes were actually affected by the variations. Now, advances in DNA sequencing technology have made it possible to move beyond these association studies to study the actual DNA sequence of the protein-coding region of the entire genome for thousands of individuals with schizophrenia. Reports just published have revealed a complex constellation of rare mutations that point to specific genes—at least in certain cases.
Network News: Gene Discoveries for Autism
Posted on by Dr. Francis Collins
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Affecting an estimated 1 in 88 U.S. children, autism spectrum disorder (ASD) is a complicated and diverse group of developmental brain disorders that interfere with language, normal communication, and social interaction. Unlike some other conditions that are caused by mutations in a single gene, as many as 1,000 genes, as well as various environmental factors, are suspected to contribute to the risk of developing ASD. That’s daunting because before we can develop broadly-applicable treatments, we need to figure out which are the key genes, what brain cells they control, and when they are active.
