Medical genetics

Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas.

Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions.

Gene therapy is the therapeutic delivery of nucleic acid polymers into a patient's cells as a drug to treat disease.

In genetics, a mosaic, or mosaicism describes the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.

Hereditary persistence of fetal hemoglobin (HPFH, BrE: Hereditary persistence of foetal haemoglobin) is a benign condition in which significant fetal hemoglobin (hemoglobin F) production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced.

Pre-implantation genetic diagnosis (PGD or PIGD) refers to genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization.

Aniridia is the absence of the iris, usually involving both eyes.

Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.

Research on heritability of IQ infers, from the similarity of IQ in closely related persons, the proportion of variance of IQ among individuals in a study population that is associated with genetic variation within that population.

A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process.

Ethylin Wang Jabs is a Chinese-American physician-scientist with expertise in medical genetics, pediatrics, and craniofacial biology.

Molecular diagnostics is a collection of techniques used to analyse biological markers in the genome and proteome—the individual's genetic code and how their cells express their genes as proteins—by applying molecular biology to medical testing.

Genome-wide complex trait analysis (GCTA) GREML is a statistical method for variance component estimation in genetics which quantifies the total narrowsense (additive) contribution to a trait's heritability of a particular subset of genetic variants (typically limited to SNPs with MAF >1%, hence terms such as "chip heritability"/"SNP heritability").

The 100,000 Genomes Project is a UK Government project that is sequencing whole genomes from National Health Service patients.

The 100K Pathogen Genome Project was launched in July 2012 by Bart Weimer (UC Davis) as an academic, public, and private partnership.

Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes.

Genetic testing, also known as DNA testing, allows the the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

Gero Hütter (born 18 December 1968) is a German hematologist.

The COSMIC database was designed to collect and display information on somatic mutations in cancer.