The World Anti-Doping Agency (WADA) is the main regulatory organization looking into the issue of the detection of gene doping. Both direct and indirect testing methods are being researched by the organization. Directly detecting the use of gene therapy usually requires the discovery of recombinant proteins or gene insertion vectors, while most indirect methods involve examining the athlete in an attempt to detect bodily changes or structural differences between endogenous and recombinant proteins.

Indirect methods are by nature more subjective, as it becomes very difficult to determine which anomalies are proof of gene doping, and which are simply natural, though unusual, biological properties. For example, Eero Mäntyranta, an Olympic cross country skier, had a mutation which made his body produce abnormally high amounts of red blood cells. It would be very difficult to determine whether or not Mäntyranta's red blood cell levels were due to an innate genetic advantage, or an artificial one.

A 2016 review found that about 120 DNA polymorphisms had been identified in the literature related to some aspect of athletic performance, 77 related to endurance and 43 related to power. 11 had been replicated in three or more studies and six were identified in genome-wide association studies, but 29 had not been replicated in at least one study.

The 11 replicated markers were:

- Endurance:

- ACE Alu I/D (rs4646994) (Called ACE I)

- ACTN3 577X

- PPARA rs4253778 G,

- PPARGC1A Gly482;

- power/strength markers:

- ACE Alu I/D (rs4646994) (called ACE D)

- ACTN3 Arg577

- AMPD1 Gln12

- HIF1A 582Ser

- MTHFR rs1801131 C

- NOS3 rs2070744 T

- PPARG 12Ala

The six GWAS markers were:

- CREM rs1531550 A,

- DMD rs939787 T

- GALNT13 rs10196189 G

- NFIA-AS1 rs1572312 C,

- RBFOX1 rs7191721 G

- TSHR rs7144481 C

Cheating at the Paralympic Games has caused scandals that have significantly changed the way in which the International Paralympic Committee (IPC) manages the events.

Testing for performance-enhancing drugs has become increasingly strict and more widespread throughout the Games, with powerlifting seeing the most positive results. Competitors without disabilities have also competed in some Paralympic Games, with the Spanish entry in the intellectually disabled basketball tournament at the 2000 Summer Paralympics being the most controversial.

The International Convention against Doping in Sport is a multilateral UNESCO treaty by which states agree to adopt national measures to prevent and eliminate drug doping in sport.

Side effects in women include:

- hair loss

- male pattern baldness

- hypertrophy of the clitoris

- increased sex drive

- irregularities of the menstrual cycle

- development of masculine facial traits

- increased coarseness of the skin

- premature closure of the epiphysis

In countries where the use of these drugs is controlled, there is often a black market trade of smuggled or counterfeit drugs. The quality of these drugs may be poor and can cause health risks. In countries where anabolic steroids are strictly regulated, some have called for a regulatory relief. Steroids are available over-the-counter in some countries such as Thailand and Mexico.

States that agree to the Convention align their domestic rules with the World Anti-Doping Code, which is promulgated by the World Anti-Doping Agency. This includes facilitating doping controls and supporting national testing programmes; encouraging the establishment of "best practice" in the labelling, marketing, and distribution of products that might contain prohibited substances; withholding financial support from those who engage in or support doping; taking measures against manufacturing and trafficking; encouraging the establishment of codes of conduct for professions relating to sport and anti-doping; and funding education and research on drugs in sport.

KWE is inherited in an autosomal dominant manner. This means that the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who also has the disorder.KWE can begin as a spontaneous mutation, first appearing in an individual with no previous family history of the disorder. This may be due to a genetic predisposition for the disorder, possibly connected to the Oudtshoorn ancestral line.

KWE is of unknown cause, as at the present time, no specific mutation of any gene has been established as the cause of the disorder. Research has shown, however, that the gene involved is located on human chromosome 8.

A candidate gene is a gene that is suspected to cause a disease or disorder. In KWE, this gene is known to be located in the area between chromosome 8q22 and 8q23. Within this region, the occurrence of loss of heterozygosity (simultaneous loss of function in both alleles of a gene) has been associated with malignancy, including certain types of breast and lung cancer. During the investigation for a KWE candidate gene in this same region, twelve protein transcripts were evaluated between microsatellite markers D8S550 and D8S1759, which is a critical area shown to be the source of KWE pathogenesis. Among the twelve transcripts identified, one corresponded to the "BLK" gene, which encodes the enzyme "B-lymphoid tyrosine kinase". Four other of these transcripts included a myotubularin ("MTMR8"), a potential human homologue of the mouse "Amac1" enzyme, a transcript similar to the mouse "L-threonine 3-dehydrogenase" gene, and one similar to a human oncogene. The remaining seven transcripts did not resemble any currently known genes. In all, none of the twelve transcripts displayed any evidence of pathogenic involvement with KWE. As a transcriptional map of this critical area is being drawn, based on microsatellite identification, haplotype analysis and other measures; localization of the gene associated with KWE pathogenesis is an ongoing process.

It is thought to have an estimated incidence of 1 in 75,000 people.

Doping in Russian sports has a systemic nature. Russia has had 51 Olympic medals stripped for doping violations – the most of any country, four times the number of the runner-up, and more than a third of the global total. From 2011 to 2015, more than a thousand Russian competitors in various sports, including summer, winter, and Paralympic sports, benefited from a cover-up.

Nuclear factor-kappa B Essential Modulator (NEMO) deficiency syndrome is a rare type of primary immunodeficiency disease that has a highly variable set of symptoms and prognoses. It mainly affects the skin and immune system but has the potential to affect all parts of the body, including the lungs, urinary tract and gastrointestinal tract. It is a monogenetic disease caused by mutation in the IKBKG gene (IKKγ, also known as the NF-κB essential modulator, or NEMO). NEMO is the modulator protein in the IKK inhibitor complex that, when activated, phosphorylates the inhibitor of the NF-κB transcription factors allowing for the translocation of transcription factors into the nucleus.

The link between IKBKG mutations and NEMO deficiency was identified in 1999. IKBKG is located on the X chromosome and is X-linked therefore this disease predominantly affects males, However females may be genetic carriers of certain types of mutations. Other forms of the syndrome involving NEMO-related pathways can be passed on from parent to child in an autosomal dominant manner – this means that a child only has to inherit the faulty gene from one parent to develop the condition. This autosomal dominant type of NEMO deficiency syndrome can affect both boys and girls.

Three main support groups of this syndrome are the ASGA in Australia, The Association for Children with Genetic Disorders in Poland, and the Association of People of Genetic Disorders in Greece.

Laminopathies ("" + "") are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. They are included in the more generic term "nuclear envelopathies" that was coined in 2000 for diseases associated with defects of the nuclear envelope. Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals.

The estimated incidence of Wiskott–Aldrich syndrome in the United States is one in 250,000 live male births. No geographical factor is present.

The 2007 Tour de France was affected by a series of scandals and speculations related to doping. By the end of the Tour, two cyclists were dismissed for failing tests and the wearer of the yellow jersey was voluntarily retired by his team for lying about his whereabouts and missing doping tests. A fourth rider was confirmed to having used doping while in a training session prior to the 2007 Tour and a fifth rider failed tests late in the race, with his result being officially announced just after the end of the Tour. During the competition, two teams were asked to withdraw after at least one member was found to have doped.

The events generated criticism and a general distrustful attitude toward the sport of professional cycling from media and public opinion. The doping allegations also resulted in several team sponsors threatening to retire their support if events advanced further. Some media such as German TV channels ARD and ZDF left the Tour once the first scandals broke. Following the Tour's conclusion, the sport's governing bodies spoke out about ways to combat the prevalence of doping in cycling and key team sponsors elected to withdraw their support due to the reputational damage caused by the scandals. The 2007 Tour de France has been referred to as one of the most controversial Tours. After the end of the Tour, "The Times" of London ranked it 4th in its list of the top 50 sporting scandals.

In sports where physical strength is favored, athletes have used anabolic steroids, known for their ability to increase physical strength and muscle mass. The drug mimics the effect of testosterone and dihydrotestosterone in the body. They were developed after Eastern Bloc countries demonstrated success in weightlifting during the 1940s. At the time they were using testosterone, which carried with it negative effects, anabolic steroids were developed as a solution. The drug has been used across a wide range of sports from football and basketball to weightlifting and track and field. While not as life-threatening as the drugs used in endurance sports, anabolic steroids have negative side effects, including:

Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is an extremely rare autosomal recessive skin condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. It is a type of lipodystophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people worldwide.

The cytogenetic location is 7q36 and genomic coordinates are GRCh37:147,900,000 - 159,138,663 (NCBI). Mapping of this syndrome was done by Dundar and coworkers in 2001. They showed that this phenotype was linked to a 6.4-cM region of 7q36 flanked by the EN2 gene and the marker D7S2423. Dundar and coworkers characterized and mapped acropectoral syndrome and also showed it was unrelated to acropectorovertebral syndrome. The mapping showed that the acropectoral locus was in a region where preaxial polydactyly and triphalangeal thumb-polysyndactyly had previously been mapped. This study was important because it expanded the range of phenotypes that are connected to this locus. Previously, preaxial polydactyly and sternal defects have been linked to expression of the gene Sonic hedgehog Shh in limbbud and lateral plate mesoderm during development in mice. Dundar and coworkers found that the LMBR1 gene links to pre axial polydactyly. This gene encodes for a new transmembrane receptor and it is proposed that this receptor is an upstream regulator of SHH.

Diagnosis

Originally NEMO deficiency syndrome was thought to be a combination of Ectodermal Dysplasia (ED) and a lack of immune function, but is now understood to be more complex disease. NEMO Deficiency Syndrome may manifest itself in the form of several different diseases dependent upon mutations of the IKBKG gene such as Incontinentia pigmenti or Ectodermal dysplasia.

The clinical presentation of NEMO deficiency is determined by three main symptoms:

1. Susceptibility to pyogenic infections in the form of severe local inflammation

2. Susceptibility to mycobacterial infection

3. Symptoms of Ectodermal Dysplasia

To determine whether or not patient has NEMO deficiency, an immunologic screen to test immune system response to antigen may be used although a genetic test is the only way to be certain as many individuals respond differently to the immunological tests.

Commonly Associated Diseases

NEMO deficiency syndrome may present itself as Incontinentia pigmenti or Ectodermal dysplasia depending on the type of genetic mutation present, such as if the mutation results in the complete loss of gene function or a point mutation.

Amorphic genetic mutations in the IKBKG gene, which result in the loss of gene function, typically present themselves as Incontinetia Pigmenti (IP). Because loss of NEMO function is lethal, only heterozygous females or males with XXY karyotype or mosaicism for this gene survive and exhibit symptoms of Incontinetia Pigmenti, such as skin lesions and abnormalities in hair, teeth, and nails. There are a variety of mutations that may cause the symptoms of IP, however, they all involve the deletion of exons on the IKBKG gene.

Hypomorphic genetic mutations in the IKBKG gene, resulting in a partial loss of gene function, cause the onset of Anhidrotic ectodermal dysplasia with Immunodeficiency (EDA-IP). The lack of NEMO results in a decreased levels of NF-κB transcription factor translocation and gene transcription, which in turn leads to a low level of immunoglobulin production. Because NF-κB translocation is unable to occur without proper NEMO function, the cell signaling response to immune mediators such as IL-1β, IL-18, and LPS are ineffective thus leading to a compromised immune response to various forms of bacterial infections.

Treatment

The aim of treatment is to prevent infections so children will usually be started on immunoglobulin treatment. Immunoglobulin is also known as IgG or antibody. It is a blood product and is given as replacement for people who are unable to make their own antibodies. It is the mainstay of treatment for patients affected by primary antibody deficiency. In addition to immunoglobulin treatment, children may need to take antibiotics or antifungal medicines to prevent infections or treat them promptly when they occur. Regular monitoring and check-ups will help to catch infections early. If an autoimmune response occurs, this can be treated with steroid and/or biologic medicines to damp down the immune system so relieving the symptoms.

In some severely affected patients, NEMO deficiency syndrome is treated using a bone marrow or blood stem cell transplant. The aim is to replace the faulty immune system with an immune system from a healthy donor.

Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.

The standard treatment is chenodeoxycholic acid (CDCA) replacement therapy. Serum cholesterol levels are also followed. If hypercholesterolemia is not controlled with CDCA, an HMG-CoA reductase inhibitor ("statins" such as simvastatin) can also be used.

Laminopathies and other nuclear envelopathies have a large variety of clinical symptoms including skeletal and/or cardiac muscular dystrophy, lipodystrophy and diabetes, dysplasia, dermo- or neuropathy, leukodystrophy, and progeria (premature aging). Most of these symptoms develop after birth, typically during childhood or adolescence. Some laminopathies however may lead to an early death, and mutations of lamin B (LMNB1 gene) may be lethal before or at birth.

CGL patients have to maintain a strict diet for life, as their excess appetite will cause them to overeat. Carbohydrate intake should be restricted in these patients. To avoid chylomicronemia, CGL patients with hypertriglyceridemia need to have a diet very low in fat. CGL patients also need to avoid total proteins, trans fats, and eat high amounts of soluble fiber to avoid getting high levels of cholesterol in the blood.

MORM syndrome is an autosomal recessive congenital disorder This means that the disorder is present from birth and is likely the result of both healthy parents passing on a defective gene, associated with MORM syndrome, to their offspring. The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder. The term MORM is used to describe the characteristics associated with the disorder which include mental retardation, truncal obesity, retinal dystrophy, and micropenis". The disorder shares similar characteristics with Bardet-Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders. MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age.

The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. Further mapping resulted in the identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic markers D9S158 and D9S905.

The Lance Armstrong doping case was a doping investigation that led to American former professional road racing cyclist Lance Armstrong being stripped of his seven Tour de France titles and his eventual admission to the doping.