Genetic disease in the context of "Chromosome abnormality"

Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease primarily of the central nervous system, affecting both motor and non-motor systems. The motor symptoms are collectively called parkinsonism and include tremors, bradykinesia (slowness in initiating movement), rigidity, and postural instability (difficulty maintaining balance). Non-motor symptoms such as dysautonomia (autonomic nervous system failures), sleep abnormalities, anosmia (decreased ability to smell), and behavioral changes or neuropsychiatric problems, such as cognitive impairment, psychosis, and anxiety, may appear at any stage of the disease. Symptoms typically develop gradually and non-motor issues become more prevalent as the disease progresses.

Most Parkinson's disease cases are idiopathic, though contributing factors have been identified. Pathophysiology involves progressive degeneration of nerve cells in the substantia nigra, a midbrain region that provides dopamine to the basal ganglia, a system involved in voluntary motor control. The cause of this cell death is poorly understood, but involves the aggregation of alpha-synuclein into Lewy bodies within neurons. Other potential factors involve genetic and environmental influences, medications, lifestyle, and prior health conditions.

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology, a science based on the study of the enzymes and their products. Finally, inborn errors of metabolism were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene–one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was published in 1923.

Preimplantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation. Embryos are generally obtained through blastomere or blastocyst biopsy. The latter technique has proved to be less deleterious for the embryo, therefore it is advisable to perform the biopsy around day 5 or 6 of development.

The world's first PGD was performed by Handyside, Kontogianni and Winston at the Hammersmith Hospital in London. "Female embryos were selectively transferred in five couples at risk of X-linked disease, resulting in two twin and one singleton pregnancy."

Child and family services (CFS) is a government or non-profit organisation designed to better the well being of individuals who come from unfortunate situations, environmental or biological. People who seek or are sought after to participate in these homes have no other resource to turn to. Children might come from abusive or neglectful homes, or live in very poor and dangerous communities. There are also agencies that cater to people who have biological deficiencies. Families that are trying to live in stable lives come to non-profit organisations for hope of a better future. Child and family services cater to many different types of people who are all in different situations. These services might be mandated through the courts via a governmental child protection agency or they might be voluntary. Child and family services may be mandated if:

• There is domestic violence in the home
• There is abuse or neglect in the home
• There is constant negativity amongst family members which could lead to violent behavior
  • Physical abuse
  • Emotional abuse
  • Sexual abuse