David C. Page is an American biologist and professor at the Massachusetts Institute of Technology (MIT), the director of the Whitehead Institute, and a Howard Hughes Medical Institute (HHMI) investigator. He is best known for his work on mapping the Y-chromosome and on its evolution in mammals and expression during development. He was cited by Bryan Sykes in Adam's Curse: A Future Without Men.
A DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) in two or more individuals if they have inherited it from a common ancestor without recombination, that is, the segment has the same ancestral origin in these individuals. DNA segments that are IBD are IBS per definition, but segments that are not IBD can still be IBS due to the same mutations in different individuals or recombinations that do not alter the segment.
Haplogroup L-M20 is a human Y-DNA haplogroup, which is defined by SNPs M11, M20, M61 and M185. As a secondary descendant of haplogroup K and a primary branch of haplogroup LT, haplogroup L currently has the alternative phylogenetic name of K1a, and is a sibling of haplogroup T.
James Van Gundia Neel was an American geneticist who played a key role in the development of human genetics as a field of research in the United States. He made important contributions to the emergence of genetic epidemiology and pursued an understanding of the influence of environment on genes. In his early work, he studied sickle-cell disease and thalassemia conducted research on the effects of radiation on survivors of the Hiroshima atomic bombing.
Maghrebis or Maghrebians is a modern Arabic term meaning "Westerners", mainly referring to the western part of the Arab world and North Africa. Maghrebis are predominantly of Arab and Berber or mixed Arab-Berber origins.
The Curt Stern Award, also known as the Stern Award, honors the memory of Curt Stern (1902–1981) as an outstanding and pioneering human geneticist. Established in 2001, this award is presented annually by the American Society of Human Genetics (ASHG) for outstanding scientific achievements in human genetics that have occurred in the last 10 years.
Aravinda Chakravarti is a human geneticist and expert in computational biology, and Director of the Center For Human Genetics & Genomics at New York University. He was the 2008 President of the American Society of Human Genetics. Chakravarti became a co-Editor-in-Chief of the journal Genome Research in 1995, and of the Annual Review of Genomics and Human Genetics' in 2005.
Forkhead box protein J1 is a protein that in humans is encoded by the FOXJ1 gene. It is a member of the Forkhead/winged helix (FOX) family of transcription factors that is involved in ciliogenesis. FOXJ1 is expressed in ciliated cells of the lung, choroid plexus, reproductive tract, embryonic kidney and pre-somite embryo stage.
A rare variant is a genetic variant which occurs at low frequency in a population. Rare variants play a significant role in both complex and Mendelian disease and are responsible for a portion of the missing heritability of complex diseases. The theoretical case for a significant role of rare variants is that alleles that strongly predispose an individual to disease will be kept at low frequencies in populations by purifying selection. Rare variants are increasingly being studied, as a consequence of whole exome and whole genome sequencing efforts. While these variants are individually infrequent in populations, there are many in human populations, and they can be unique to specific populations. They are more likely to be deleterious than common variants, as a result of rapid population growth and weak purifying selection. They have been suspected of acting independently or along with common variants to cause disease states.
Neu–Laxova syndrome is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. Neu–Laxova syndrome is a very severe disorder, leading to stillbirth or death shortly after birth. It was first described by Dr. Richard Neu in 1971 and Dr. Renata Laxova in 1972 as a lethal disorder in siblings with multiple malformations. Neu–Laxova syndrome is an extremely rare disorder with less than 100 cases reported in medical literature.
Globozoospermia is a rare and severe form of monomorphic teratozoospermia. This means that the spermatozoa show the same abnormality, and over 85% of spermatozoa in sperm have this abnormality. Globozoospermia is responsible for less than 0.1% of male infertility. It is characterised by round-headed spermatozoa without acrosomes, an abnormal nuclear membrane and midpiece defects. Affected males therefore suffer from either reduced fertility or infertility. Studies suggest that globozoospermia can be either total or partial, however it is unclear whether these two forms are variations on the same syndrome, or actually different syndromes.
Francis Hugh Ruddle (1929–2013) was an American cell and developmental biologist who was the Sterling Professor at Yale University. Ruddle was an early visionary of the Human Genome Project and created the first genetically modified mouse. He was a pioneer in both human and mouse genetics.
Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly with lissencephaly. Microlissencephaly is a heterogeneous disorder, i.e. it has many different causes and a variable clinical course. Microlissencephaly is a malformation of cortical development (MCD) that occurs due to failure of neuronal migration between the third and fifth month of gestation as well as stem cell population abnormalities. Numerous genes have been found to be associated with microlissencephaly, however, the pathophysiology is still not completely understood.
Jürg Ott is Emeritus Professor of statistical genetics at Rockefeller University, New York.
In human population genetics, Native American ancestry refers to genetic ancestry being traced to a relationship back to one or more individuals who were Indigenous to the Americas. Tests cannot pinpoint specific Native American tribes, nor can tests determine whether someone is Native American or not.
Sharon Ruth Browning is a statistical geneticist at the University of Washington, and a research professor with its Department of Biostatistics. Her research has various implications for the field of biogenetics.
Matthew Edward Hurles is head of human genetics at the Wellcome Sanger Institute and an honorary professor of Human Genetics and Genomics at the University of Cambridge.
Cynthia Casson Morton is an American geneticist, professor at Harvard Medical School, and director of cytogenetics at Brigham and Women's Hospital.
Haig H. Kazazian, Jr. was a professor in the Department of Genetic Medicine at Johns Hopkins University School of Medicine in Baltimore, Maryland. Kazazian was an elected member of the National Academy of Sciences and the American Academy of Arts and Sciences.
Anne Goriely is a British geneticist who is a professor of human genetics at the University of Oxford. Her research investigates the molecular mechanisms that underpin genetic variation, particularly mutations in the male germline.
