Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia, depression, apathy, and impulsivity at times. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age, and can start at any age but are usually seen around the age of 40. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as juvenile HD, which typically present with the slow movement symptoms of Parkinson's disease rather than those of chorea.
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
A school counselor is a certified/licensed professional that provides academic, career, college readiness, and social-emotional support for all students. There are school counselor positions within each level of schooling. By developing and following a school counseling program, school counselors are able to provide students of all ages with the appropriate support and guidance needed for overall success.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
The American College of Medical Genetics and Genomics (ACMG) is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics.
Preconception counseling is an informative discussion with a healthcare professional by an individual with or without support people who is interested in a future pregnancy. The goal of preconception care is to educate people on the importance of health optimization prior to pregnancy to reduce the risk for pregnancy complications and promote a healthy intrauterine environment for normal fetal growth and development. It generally includes a preconception risk assessment for any potential complications of pregnancy as well as modifications of risk factors, such as increasing folic acid intake to reduce the risk of neural tube defects and counseling on smoking cessation, alcohol reduction, and medications that may compromise fetal development. Physicians, midwives and baby experts recommend that an individual should visit them as soon as a person is contemplating having a child, and optimally at least 3 to 6 months before actual attempts are made to conceive. This time frame allows a woman to better prepare her body for successful conception (fertilization) and pregnancy, and allows her to reduce any health risks which are within her control. Agencies such as the March of Dimes have developed screening tools that healthcare providers can use with their patients. In addition, obstetricians or midwives have developed comprehensive check-lists and assessments for the woman who is planning to become pregnant.
Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks.
Nature Genetics is a peer-reviewed scientific journal published by Nature Portfolio. It was established in 1992. It covers research in genetics. The chief editor is Tiago Faial.
American Journal of Medical Genetics is a peer-reviewed medical journal dealing with human genetics published in three separate sections (parts) by Wiley-Liss:
The Journal of Psychology: Interdisciplinary and Applied is a bimonthly double-blind, peer-review psychology journal published by Taylor & Francis. The Journal of Psychology was founded in 1935 by Carl Murchison, an American psychologist, organizer, publisher, and editor. He co-founded The Journal of Genetic Psychology, The Journal of Social Psychology, and The Journal of General Psychology, among others. In 2009, Heldref sold the ownership of the titles to Taylor & Francis.
Pashayan syndrome, also known as Pashayan–Pruzansky syndrome and blepharo-naso-facial syndrome, is a rare syndrome with Mendelian autosomal dominant inheritance with variable expression. An article describing a family with this syndrome was first published in 1973 in The American Journal of Diseases of Children by Drs Hermine Pashayan, Samuel Pruzansky and Allen Putterman from Abraham Lincoln School of Medicine, University of Illinois in Chicago. Facial abnormalities characterise this syndrome as well as malformation of extremities. Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed.
Barton Childs was an American pediatrician and geneticist. He was born in Chicago, Illinois, and graduated from Williams College in 1938. In 1942, he received his M.D. from Johns Hopkins University. Following military service in World War II, he returned to Johns Hopkins for a residency in pediatrics. After a fellowship at Boston Children's Hospital in Boston, he returned to Johns Hopkins University in 1949, where he remained until his retirement in 1981. He remained a professor emeritus in the Department of Pediatrics at The Johns Hopkins University School of Medicine until his death.
The medical genetics of Jews have been studied to identify and prevent some rare genetic diseases that, while still rare, are more common than average among people of Jewish descent. There are several autosomal recessive genetic disorders that are more common than average in ethnically Jewish populations, particularly Ashkenazi Jews, because of relatively recent population bottlenecks and because of consanguineous marriage. These two phenomena reduce genetic diversity and raise the chance that two parents will carry a mutation in the same gene and pass on both mutations to a child.
GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as GeneClinics by Roberta A Pagon with funding from the National Institutes of Health. Its focus is primarily on single-gene disorders, providing current disorder-specific information on diagnosis, management, and genetic counseling. Links to disease-specific and/or general consumer resources are included in each article when available. The database is published on the National Center for Biotechnology Information Bookshelf site. Articles are updated every four to five years or as needed, and revised whenever significant changes in clinically relevant information occur. Articles are searchable by author, title, gene, and name of disease or protein, and are available free of charge.
Genomic counseling is the process by which a person gets informed about his or her genome often in the setting of elective genetic and genomic testing. In contrast to genetic counseling, which focuses on Mendelian diseases and typically involves person-to-person communication with a genetic counselor or other medical genetics expert, genomic counseling is not limited to currently clinically relevant information. It is often based on genomic information that is of interest for the informed person, such as increased risk for common complex disease that has actionable components, genetically determined non-disease related traits, or recreational forms of information and genetic genealogy data. An individual's response to certain medications/drugs based on their pharmacogenomic profile may be provided.
The National Society of Genetic Counselors (NSGC), founded and incorporated in 1979, is the largest association of genetic counselors with over 3,600 members. Its membership includes genetic counselors and other healthcare professionals working in the field of medical genetics from the United States, Canada, and around the world.
Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50 cases described in the literature. It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age, characteristic facial appearance, and delayed speech development. Although its cause is unknown, it is thought to result from genetic mutation, and diagnosis is established by the presence of a heterozygous SRCAP mutation in those with clinical findings of FHS.
Genetic Testing and Molecular Biomarkers is a monthly peer reviewed scientific journal published by Mary Ann Liebert, Inc. The editor-in-chief is Garth Ehrlichs. The journal covers genetic testing research along with associated ethical, legal, social, and economic issues. Related genetic testing coverage includes risk assessment, genetic counseling, carrier detection, novel instrumentation, and cytogenetics. It is the official journal of Genetic Alliance.
Sheldon Clark Reed was an American biologist and geneticist who coined the term genetic counseling and advocated for the wider use of genetic counseling as a means to educate the public.
Bettina Meiser is a professor at the University of New South Wales, with expertise in the psychosocial aspects of genetics; cancer, hereditary cancer, and the impact of genetic counselling and testing.
