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An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly-repetitive sequences. Introns make up a large percentage of non-coding DNA. Some of this non-coding DNA is non-functional junk DNA, such as pseudogenes, but there is no firm consensus on the total mount of junk DNA.
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.
Victor Almon McKusick was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is well known for his studies of the Amish. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM). He is widely known as the "father of medical genetics".
Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it the central eye appears all black. It can be congenital, in which both eyes are usually involved, or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with a number of ocular complications: nystagmus, amblyopia, buphthalmos, and cataract. Aniridia in some individuals occurs as part of a syndrome, such as WAGR syndrome, or Gillespie syndrome.
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections.
Heřmanský–Pudlák syndrome is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and storage of an abnormal fat-protein compound. It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing. This includes untranslated regions of messenger RNA (mRNA), and coding regions. Exome sequencing has proven to be an efficient method of determining the genetic basis of more than two dozen Mendelian or single gene disorders.
Ichthyosis prematurity syndrome (IPS) is a dermatological disease with known genetic causes. This syndrome is a rare subcategory of autosomal recessive congenital ichthyosis (ARCI). It is associated with complications in the mid-trimester of a pregnancy leading to premature births. Although most prevalent in individuals of Scandinavian origin, there have also been scattered cases in people of Japanese, Italian and Indian ethnicity. This disorder is also referred to as ichthyosis congenital type IV.
The medical genetics of Jews have been studied to identify and prevent some rare genetic diseases that, while still rare, are more common than average among people of Jewish descent. There are several autosomal recessive genetic disorders that are more common than average in ethnically Jewish populations, particularly Ashkenazi Jews. This is due to population bottlenecks that occurred relatively recently in the past as well as a practice of consanguineous marriage. These two phenomena lead to a decrease in genetic diversity and a higher likelihood that two parents will carry a mutation in the same gene and pass on both mutations to a child.
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.
Eric Emil Schadt is an American mathematician and computational biologist. He is founder and chief executive officer of Sema4, a patient-centered health intelligence company, and dean for precision medicine and Mount Sinai Professor in Predictive Health and Computational Biology at the Icahn School of Medicine at Mount Sinai. He was previously founding director of the Icahn Institute for Genomics and Multiscale Biology and chair of the Department of Genetics and Genomics Sciences at the Icahn School of Medicine at Mount Sinai.
The Icahn Genomics Institute is a biomedical and genomics research institute located in New York, NY. It is housed within the Icahn School of Medicine at Mount Sinai. Its aim is to establish a new generation of medicines that can better treat diseases afflicting the world, including cancer, heart disease and infectious pathogens. To do this, the institute’s doctors and scientists are developing and employing new types of treatments that utilize DNA and RNA based therapies, such as CRISPR, siRNA, RNA vaccines, and CAR T cells, and searching for novel drug targets through the use of functional genomics and data science.
Andrew Kasarskis is an American biologist. He is the Chief Data Officer (CDO) at Sema4. He was previously CDO and an Executive Vice President (EVP) at the Mount Sinai Health System in New York City and, before that, vice chair of the Department of Genetics and Genomic Sciences and Co-director of the Icahn Institute for Genomics and Multiscale Biology at the Icahn School of Medicine at Mount Sinai. Kasarskis is known for taking a network-based approach to biology and for directing the first medical school class offering students the opportunity to fully sequence and analyze their own genomes.
Ethylin Wang Jabs is a Chinese-American physician-scientist with expertise in medical genetics, pediatrics, and craniofacial biology. She is currently vice chair of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai Medical Center. Jabs is also a professor in the departments of developmental and regenerative biology and pediatrics at Mount Sinai and an adjunct professor in pediatrics, medicine, and surgery at the Johns Hopkins School of Medicine. Her research and clinical practice have focused on development genetics and patients with birth defects.
Giulio Maria Pasinetti is the Program Director of the Center on Molecular Integrative Neuroresilience and is the Saunders Family Chair in Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS) in New York City. Pasinetti is a Professor of Neurology, Psychiatry, Neuroscience, and Geriatrics and Palliative Medicine at ISMMS.
Complex traits, also known as quantitative traits, are traits that do not behave according to simple Mendelian inheritance laws. More specifically, their inheritance cannot be explained by the genetic segregation of a single gene. Such traits show a continuous range of variation and are influenced by both environmental and genetic factors. Compared to strictly Mendelian traits, complex traits are far more common, and because they can be hugely polygenic, they are studied using statistical techniques such as QTL mapping rather than classical genetics methods. Examples of complex traits include height, circadian rhythms, enzyme kinetics, and many diseases including diabetes and Parkinson's disease. One major goal of genetic research today is to better understand the molecular mechanisms through which genetic variants act to influence complex traits.
References
- ↑ "The Resilience Project". resilienceproject.com. Retrieved 14 April 2020.
- ↑ "Genetic superheroes". The Economist. 16 April 2016. Retrieved 21 August 2017.
- ↑ "Analysis of nearly 600,000 genomes for resilience project" . Retrieved 21 August 2017.
- ↑ "The Search for Genes That Prevent Disease - Icahn School of Medicine at Mount Sinai". Icahn School of Medicine at Mount Sinai. Retrieved 21 August 2017.
- ↑ "Do 'genetic superheroes' exist? Or did media overhype Resilience Project?". 19 April 2016. Retrieved 21 August 2017.
- 1 2 Warren, Mark (19 October 2016). "The Cure for Cancer Is Data—Mountains of Data". Wired. Retrieved 21 August 2017.
- ↑ "Search of over 500,000 genomes yields thirteen individuals apparently resistant to severe genetic diseases - GENeS". 11 April 2016. Retrieved 21 August 2017.
- ↑ Chen, Rong; Shi, Lisong; Hakenberg, Jörg; Naughton, Brian; Sklar, Pamela; Zhang, Jianguo; Zhou, Hanlin; Tian, Lifeng; Prakash, Om; Lemire, Mathieu; Sleiman, Patrick; Cheng, Wei-yi; Chen, Wanting; Shah, Hardik; Shen, Yulan; Fromer, Menachem; Omberg, Larsson; Deardorff, Matthew A.; Zackai, Elaine; Bobe, Jason R.; Levin, Elissa; Hudson, Thomas J.; Groop, Leif; Wang, Jun; Hakonarson, Hakon; Wojcicki, Anne; Diaz, George A.; Edelmann, Lisa; Schadt, Eric E.; Friend, Stephen H. (1 May 2016). "Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases". Nature Biotechnology. 34 (5): 531–538. doi: 10.1038/nbt.3514 . PMID 27065010.
- ↑ Williams, Sarah C. P. (8 March 2016). "News Feature: Genetic mutations you want". Proceedings of the National Academy of Sciences. 113 (10): 2554–2557. Bibcode:2016PNAS..113.2554W. doi: 10.1073/pnas.1601663113 . PMC 4791022 . PMID 26957571.
- 1 2 "'Buffer genes' may protect these 13 people from rare genetic diseases". 11 April 2016. Retrieved 21 August 2017.
- ↑ "Mount Sinai Launches App and First Campaign of The Resilience Project to Develop New Treatments and Preventive Care for Diseases". Icahn School of Medicine at Mount Sinai. Retrieved 14 April 2020.