Synaptic Plasticity as a Therapeutic Target in the Treatment of Autism-related Single-gene Disorders

Thalassaemias result from mutations of the globin genes that cause reduced or absent haemoglobin production and thus interfere with the critical function of oxygen delivery. They represent the most common single-gene disorders, with 4.83% of the world population carrying globin gene variants. Reduced or absent α-globin (α-thalassaemia) or β-globin (β-thalassaemia) leads to anaemia and multifaceted clinical syndromes. In this second of two reviews on the pathophysiology of haemoglobinopathies, we describe the clinical features, pathophysiology and molecular basis of α- and β-thalassaemias. We then discuss current targeted therapies, including the new oral iron chelators, which, along with chronic transfusions, constitute the mainstay of symptomatic therapy for the majority of patients. Finally, we describe potentially curative therapies, such as bone marrow transplant, and discuss some of the outstanding research studies and questions, including the upcoming field of gene therapy for β-thalassaemia. An accompanying article on haemoglobinopathies (Part I) focuses on sickle cell disease.

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Sex chromosomes-linked single-gene disorders involved in human infertility

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2018.10.012 ◽

2019 ◽

Vol 62 (9) ◽

pp. 103560

Author(s):

Ines Jedidi ◽

Mouna Ouchari ◽

Qinan Yin

Keyword(s):

Sex Chromosomes ◽

Single Gene ◽

Single Gene Disorders

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Cardiovascular Single Gene Disorders

Cardiovascular Genetics and Genomics for the Cardiologist ◽

10.1002/9780470691977.part1 ◽

2008 ◽

pp. 17-17

Keyword(s):

Single Gene ◽

Single Gene Disorders

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Does the ADA Provide Protection Against Discrimination on the Basis of Genotype?

The Journal of Law Medicine & Ethics ◽

10.1111/j.1748-720x.1995.tb01346.x ◽

1995 ◽

Vol 23 (2) ◽

pp. 167-172 ◽

Cited By ~ 5

Author(s):

Joseph S. Alper

Keyword(s):

Americans With Disabilities Act ◽

Genetic Disorder ◽

Single Gene ◽

Genetic Discrimination ◽

Healthy Individuals ◽

Multifactorial Diseases ◽

Total Incidence ◽

Single Gene Disorders ◽

Near Future ◽

The U.S

As a consequence of the problems caused by genetic discrimination, federal and state law makers are being pressured to pass a legislative remedy. A primary question is whether the Americans with Disabilities Act of 1990 (ADA) applies to (1) individuals with a potentially disabling genetic disorder who are pre-symptomatic or asymptomatic and may never become ill and to (2) healthy individuals who are carriers of genetic conditions. At present, this question has relevance principally for individuals with the genotype for single gene disorders, like Huntington disease and hemochromatosis, and to asymptomatic carriers of single gene disorders such as cystic fibrosis. Although many such single gene conditions exist, the total incidence of these conditions in the U.S. population is less than 0.4 percent. However, the question concerning the applicability of the ADA will become increasingly important because genetic tests will almost certainly be developed in the near future for common multifactorial diseases like diabetes, heart disease, and certain forms of cancer.

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Reaching Future Scientists, Consumers, & Citizens

The American Biology Teacher ◽

10.1525/abt.2014.76.6.5 ◽

2014 ◽

Vol 76 (6) ◽

pp. 379-383 ◽

Cited By ~ 3

Author(s):

Melissa A. Hicks ◽

Rebecca J. Cline ◽

Angela M. Trepanier

Keyword(s):

Personalized Medicine ◽

Genetic Basis ◽

Genetic Disorders ◽

Single Gene ◽

Personal Health ◽

Adult Onset ◽

Biology Textbooks ◽

Multifactorial Diseases ◽

Single Gene Disorders

An understanding of how genomics information, including information about risk for common, multifactorial disease, can be used to promote personal health (personalized medicine) is becoming increasingly important for the American public. We undertook a quantitative content analysis of commonly used high school textbooks to assess how frequently the genetic basis of common multifactorial diseases was discussed compared with the “classic” chromosomal–single gene disorders historically used to teach the concepts of genetics and heredity. We also analyzed the types of conditions or traits that were discussed. We identified 3957 sentences across 11 textbooks that addressed multifactorial and “classic” genetic disorders. “Classic” gene disorders were discussed relatively more frequently than multifactorial diseases, as was their genetic basis, even after we enriched the sample to include five adult-onset conditions common in the general population. Discussions of the genetic or hereditary components of multifactorial diseases were limited, as were discussions of the environmental components of these conditions. Adult-onset multifactorial diseases are far more common in the population than chromosomal or single-gene disorders; many are potentially preventable or modifiable. As such, they are targets for personalized medical approaches. The limited discussion in biology textbooks of the genetic basis of multifactorial conditions and the role of environment in modifying genetic risk may limit the public’s understanding and use of personalized medicine.

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