Mutations can cause genetic diseases and the vast majority of these have no effective treatment. They raise some difficult questions on the boundaries of science and social science. Selective breeding to "improve" the human race (eugenics) is often regarded as a Victorian relic or Nazi fantasy. Yet, three fetuses with Down syndrome are…

William's Syndrome (WS) is a rare neurodevelopmental disorder caused by a genetic abnormality, affecting about 1 in 10,000 people worldwide. While there are some behavioral similarities between WS and other high incidence disabilities, such as autism, several unique physical, cognitive, and behavioral characteristics are expressed in individuals…

Exposure to information about genetics is at an all-time high, while a full understanding of the biocultural complexity of human difference is low. This paper demonstrates the value of an "anthropological approach" to enhance genetics education in biology, anthropology, and other related disciplines, when teaching about human differences…

This article draws attention to contemporary research and theorizing that counters and resolutely dispels biological determinism laden with a plethora of mythic racial, gender, dis/ability and other types of unproven assumptions, conjectures, and biases. Based on a wide range of emerging conceptual breakthroughs and a growing body of evidence…

Coenzyme Q[subscript 10] (CoQ[subscript 10]) is an essential electron carrier in the mitochondrial respiratory chain and an important antioxidant. Deficiency of CoQ[subscript 10] is a clinically and molecularly heterogeneous syndrome, which, to date, has been found to be autosomal recessive in inheritance and generally responsive to CoQ[subscript…

Mitochondrial oxidative phosphorylation (OXPHOS) represents the final step in the conversion of nutrients into cellular energy. Genetic defects in the OXPHOS system have an incidence between 1:5,000 and 1:10,000 live births. Inherited isolated deficiency of the first complex (CI) of this system, a multisubunit assembly of 45 different proteins,…

"Epigenesis" is the biochemical process through which some genes are expressed and others remain silent, and it reinforces and explains the powerful impact that the environment has on human development. Epigenetic effects occur not only through diet, chemical exposure, and high levels of environmental stress, but also through chronic poverty and…

Approximately 30,000 people in the United States have cystic fibrosis (CF), and each year around 1,000 new cases are diagnosed. About one half of this population consists of school-age youth. With an understanding of the psychosocial and mental health factors surrounding CF, school psychologists are well positioned to support children and…

The vast majority of energy necessary for cellular function is produced in mitochondria. Free-radical production and apoptosis are other critical mitochondrial functions. The complex structure, electrochemical properties of the inner mitochondrial membrane (IMM), and genetic control from both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) are…

In the United States, genetic research, as well as policy and practice innovations based on this research, has expanded greatly over the past few decades. This expansion is indicated, for example, by the mapping of the human genome, an expansion of genetic counseling, and other biogenetic research. Also, a disability rights movement that in many…

The Smithsonian's rich and vast collections differentiate them from every other museum on the planet, but it is their people that truly distinguish them. From astrophysics and American art to sociology and zoology, they represent a staggering breadth of knowledge and depth of commitment, yet the most exciting thing to watch is what happens when…

Since the 1990s the number of children with disabilities placed within the general education classroom has steadily increased. Many of these children are provided special education services under the generic disability title "intellectual disability." Over the past decade, there has been a significant amount of research concerning rare…

Celiac disease is a genetic autoimmune disorder characterized by a heightened sensitivity to gluten, the protein in wheat, barley and rye. The disease is more common than most people think, affecting approximately 3 million in the United States, about 1 in 100. One of the most notable things about celiac disease is that up to 97 percent of…

Ethical issues regarding children with disabilities have long involved their treatment after they are born. These issues remain important, but children may be deliberately created with or without characteristics that are usually thought of as disabilities. Preimplantation genetic diagnosis (PGD) and related technologies that involve human…

Usher Syndrome is an autosomal recessive genetic disorder characterized by congenital hearing loss and gradually developing retinitis pigmentosa leading to the loss of vision. Approximately 27,000 people in the United States have some form of Usher Syndrome. Most of these individuals have either Type I (11,000) or Type II (16,000). Type I Usher…