Biological diversity or biodiversity is the term given to the variety of life on Earth.

It is the
variety within and between all species of plants, animals and micro-organisms and the
ecosystems within which they live and interact.
The degree of variation of living things present in a particular ecosystem

Genetics is the study of genes, genetic variation, and heredity in living organisms. It is
generally considered a field of biology, but it intersects frequently with many of the life sciences
and is strongly linked with the study of information systems.
The father of genetics is Gregor Mendel, a late 19th-century scientist and Augustinian friar. Mendel
studied 'trait inheritance', patterns in the way traits were handed down from parents to offspring. He
observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This
term, still used today, is a somewhat ambiguous definition of what is referred to as a gene.

Disease Understanding
Genetics has advanced understanding of many disorders, sometimes allowing them to be
reclassified. For example, classification of many spinocerebellar ataxias has been changed from
one based on clinical criteria to one based on genetic criteria (see Movement and Cerebellar
Disorders:Hereditary ataxias). The Online Mendelian Inheritance in Man ( OMIM ) database is a
searchable catalog of human genes and genetic disorders.

Diagnosis
Genetic testing is used to diagnose many disorders (eg, Turner syndrome, Klinefelter syndrome,
hemochromatosis). Diagnosis of a genetic disorder often indicates that relatives of the affected
person should be screened for the genetic defect or for carrier status. A catalog of genetic tests is
available worldwide from GeneTests . Reviews of many genetic diseases with diagnostic
strategies and recommendations for risk counseling are available from GeneReviews .

Genetic Screening
Genetic screening may be indicated in populations at risk of a particular genetic disorder. The
usual criteria for genetic screening are

Genetic inheritance patterns are known.

Effective therapy is available.

Screening tests are sufficiently valid, reliable, sensitive and specific, noninvasive, and
safe.

Prevalence in a defined population must be high enough to justify the cost of screening.
One aim of prenatal genetic screening (see Prenatal Genetic Counseling and Evaluation) is to
identify asymptomatic parental heterozygotes carrying a gene for a recessive disorder. For

example, Ashkenazi Jews are screened for Tay-Sachs disease, blacks are screened for sickle cell
anemia, and several ethnic groups are screened for thalassemia (see Table: Genetic Screening for
Some Ethnic Groups). If a heterozygotes mate is also a heterozygote, the couple is at risk of
having an affected child. If the risk is high enough, prenatal diagnosis can be pursued (eg, with
amniocentesis, chorionic villus sampling, umbilical cord blood sampling, maternal blood
sampling, or fetal imaging). In some cases, genetic disorders diagnosed prenatally can be treated,
preventing complications. For instance, special diet or replacement therapy can minimize or
eliminate the effects of phenylketonuria, galactosemia, and hypothyroidism. Corticosteroids
given to the mother before birth may decrease the severity of congenital virilizing adrenal
hypoplasia.
Screening may be appropriate for people with a family history of a dominantly inherited disorder
that manifests later in life, such as Huntington disease or cancers associated with abnormalities
of the BRCA1 and BRCA2 genes. Screening clarifies the risk of developing the condition for that
person, who can then make appropriate plans, such as for more frequent screening or preventive
therapy.
Screening may also be indicated when a family member is diagnosed with a genetic disorder. A
person who is identified as a carrier can make informed decisions about reproduction.

Treatment
Understanding the genetic and molecular basis of disorders may help guide therapy. For
example, dietary restriction can eliminate compounds toxic to patients with certain genetic
defects, such as phenylketonuria or homocystinuria. Vitamins or other agents can modify a
biochemical pathway and thus reduce toxic levels of a compound; eg, folate (folic acid) reduces
homocysteine levels in people with 5,10-methylene tetrahydrofolate reductase polymorphism.
Therapy may involve replacing a deficient compound or blocking an overactive pathway.

Pharmacogenomics
Pharmacogenomics is the science of how genetic characteristics affect the response to drugs. One
aspect of pharmacogenomics is how genes affect pharmacokinetics. Genetic characteristics of a
person may help predict response to treatments. For example, metabolism of warfarin is
determined partly by variants in genes for the CYP2C9 enzyme and for the vitamin K epoxide
reductase complex protein 1. Genetic variations (eg, in production of UDP [uridine diphosphate]glucoronosyltransferase 1A1) also help predict whether the anticancer drug irinotecan will have
intolerable adverse effects.
Another aspect of pharmacogenomics is pharmacodynamics (how drugs interact with cell
receptorssee Overview of Pharmacodynamics). Genetic and thus receptor characteristics of
disordered tissue can help provide more precise targets when developing drugs (eg, anticancer
drugs). For example, trastuzumab can target specific cancer cell receptors in metastatic breast
cancers that amplify the HER2/neu gene. Presence of the Philadelphia chromosome in patients
with chronic myelogenous leukemia (CML) helps guide chemotherapy.

Gene therapy

Gene therapy can broadly be considered any treatment that changes gene function. However,
gene therapy is often considered specifically the insertion of normal genes into the cells of a
person who lacks such normal genes because of a specific genetic disorder. The normal genes
can be manufactured, using PCR, from normal DNA donated by another person. Because most
genetic disorders are recessive, usually a dominant normal gene is inserted. Currently, such
insertion gene therapy is most likely to be effective in the prevention or cure of single-gene
defects, such as cystic fibrosis.

DNA, or deoxyribonucleic acid, is the hereditary material in humans

and almost all other organisms. Nearly every cell in a persons body
has the same DNA. Most DNA is located in the cell nucleus (where it
is called nuclear DNA), but a small amount of DNA can also be found
in the mitochondria (where it is called mitochondrial DNA or mtDNA).
All living organisms store genetic information using the same molecules DNA and RNA.
Written in the genetic code of these molecules is compelling evidence of the shared ancestry
of all living thing.
In biology, a mutation is a permanent alteration of the nucleotide sequence of the genome of an
organism, virus, or extrachromosomalDNA or other genetic elements.
The abnormalities in cancer cells usually result from mutations in protein-encoding
genes that regulate cell division. Over time more genes become mutated. This is
often because the genes that make the proteins that normally repair DNA damage
are themselves not functioning normally because they are also mutated.
Consequently, mutations begin to increase in the cell, causing further abnormalities
in that cell and the daughter cells. Some of these mutated cells die, but other
alterations may give the abnormal cell a selective advantage that allows it to
multiply much more rapidly than the normal cells. This enhanced growth describes
most cancer cells, which have gained functions repressed in the normal, healthy
cells. As long as these cells remain in their original location, they are considered
benign; if they become invasive, they are considered malignant. Cancer cells in
malignant tumors can often metastasize, sending cancer cells to distant sites in the
body where new tumors may form.