Genetic diseases

Extracted Attributes

• Causes

  Mutation in a single gene (monogenic), multiple genes (polygenic), or a chromosome abnormality; de novo mutation; inherited from parents (carriers or affected).

• Definition

  A health problem caused by one or more abnormalities in the genome.

• Characteristics

  Present before birth; some produce birth defects; can be hereditary.

• Diagnostic methods

  Enzyme assay methods, DNA studies, family history, clinical symptoms (developmental delay, congenital abnormalities, dysmorphologies, growth problems).

• Prevention methods

  Assisted reproductive therapy techniques (e.g., preimplantation genetic testing).

• Treatment approaches

  Varies by specific disease; includes medication, behavioral/educational interventions, diet management, surgery, ancillary services (speech/occupational therapy).

• Types of Inheritance

  Autosomal recessive, autosomal dominant, X-linked, Y-linked (very few), mitochondrial DNA (very few).

• Genetic testing types

  Predictive, presymptomatic, carrier screening.

• Number of known disorders

  Over 6,000

• Number of treatable disorders

  More than 600

• Distinction from acquired diseases

  Most cancers are acquired diseases, but some cancer syndromes (e.g., BRCA mutations) are hereditary genetic disorders.

• Prevalence (chromosomal disorders)

  Approximately 1 in 263 people

• Prevalence (single-gene disorders)

  Approximately 1 in 50 people

• Prevalence (rare genetic disorders)

  Affects fewer than 1 in 2,000 people

• Collective prevalence (rare genetic disorders)

  Approximately 1 in 21 people

• Prevalence (health issues due to congenital genetic mutations)

  Around 65% of people

Timeline

• Profluent Bio developed and open-sourced OpenCrispr-1, an AI-driven gene editing tool, to accelerate research and development of cures for genetic diseases by bypassing patent barriers. (Source: Related Documents)

  Recent

Genetic disorder

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 chromosome 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 (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). 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 (due to their size). There are well over 6,000 known genetic disorders, and new genetic disorders are constantly being described in medical literature. More than 600 genetic disorders are treatable. Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder. Around 65% of people have some kind of health problem as a result of congenital genetic mutations. Due to the significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as "rare" (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in themselves. Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease. Most cancers, although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases. Some cancer syndromes, however, such as BRCA mutations, are hereditary genetic disorders.

Web Search Results

• Diagnosis of a Genetic Disease - Understanding Genetics - NCBI

  Other clinical symptoms that are suggestive of a genetic disease include developmental delay/mental retardation and congenital abnormalities. Dysmorphologies often involving the heart and facies as well as growth problems are suggestive of a genetic disorder caused by an inherited mutation, spontaneous mutation, teratogen exposure, or unknown factors. While these clinical features may be caused by a number of factors, genetic conditions should also be considered as part of the differential [...] There are several factors that raise the possibility of a genetic disease in a differential diagnosis. One major factor is the occurrence of a condition among family members that is disclosed when the family history is obtained (see Chapter 3 on Pedigree and Family-History Taking). The occurrence of the same condition in more than one family member (particularly first-degree relatives), multiple miscarriages, stillbirths, and childhood deaths are all suggestive of a genetic disease. [...] All diseases have a genetic component. However, the extent to which genes contribute to disease varies and much remains to be learned. Advances in understanding the genetic mechanisms behind these disease enables the development of early diagnostic tests, new treatments, or interventions to prevent disease onset or minimize disease severity. This chapter provides information about the importance of clinical signs such as family history that may be suggestive of a genetic disease, the different

• Genetic Disorders | Boston Children's Hospital

  Image 2: U.S.News & World Report Honor Roll 2024-2025 Image 3: World's Best Specialized Hospital in Pediatrics by Newsweek Listen Overview Diagnosis & Treatments Programs & Services Contact Us What are genetic disorders? Genetic disorders is a category of diseases that includes certain types of birth defects, chronic diseases, developmental problems, and sensory deficits that are inherited from one or both parents. ### Birth defects [...] Treatment of genetic disorders varies depending on the specific disease. In some cases, such as autism, the symptoms are treated with medication, behavioral, and educational interventions. Other disorders, such as PKU (phenylketonuria), can be managed through diet, while some of the physical symptoms of certain genetic diseases can be corrected with surgery. In many cases, your child will need ancillary services that may include speech therapy and occupational therapy, among others. [...] Predictive genetic testing can tell you the chances that a healthy person with or without a family history of a certain disease might develop that disease. These diseases can include some types of cancer and heart disease. Presymptomatic genetic testing can tell if a person with a family history for a genetic disease but does not have symptoms or has a genetic alteration associated with the disease.

• What You Need to Know About 5 Most Common Genetic Disorders

  Genetic disorders can be the result of genetic abnormalities such as gene mutation or additional chromosomes. The effects of abnormalities in an individual’s DNA were once entirely unpredictable. However, modern medicine has produced methods of identifying the potential health outcomes of genetic disorders, as evidenced by medical research from educated, advanced-degreed nurse practitioners and practicing physicians. By collecting the following evidence-based statistical observations, these [...] Adults can also be diagnosed with Late-Onset Tay-Sachs disease, which causes a manageable level of diminished cognitive ability. While detecting Tay-Sachs can be accomplished by using enzyme assay methods or DNA studies, an option does exist to prevent the risk entirely. Assisted reproductive therapy techniques can be conducted that test in-vitro embryos for Tay-Sachs before implanting them into the mother. This can allow only healthy embryos to be selected.

• 6 Most Common Hereditary Diseases - Healthgrades Health Library

  A hereditary disease is often described as something that “runs in the family.” It is passed down from one or both parents to a child, who may then pass it to his or her children. Because hereditary diseases are caused by genetic mutations, you may see the terms “hereditary” and “genetic” used interchangeably when referring to inherited disease. But while a genetic disease is also the result of a gene mutation, it may or may not be hereditary. These mutations occur either randomly or due to an [...] 1. What does it mean if a disorder seems to run in my family? NIH. U.S. National Library of Medicine. Genetics Home Reference. 2. Genetic Disorders. NIH. National Human Genome Research Institute. 3. About Tay Sachs Disease. NIH. National Human Genome Research Institute. 4. About Sickle Cell Disease. NIH. National Human Genome Research Institute. 5. Huntington’s Disease. Mayo Clinic. 6. Cystic fibrosis. Mayo Clinic. 7. Hemophilia. NIH. National Human Genome Research Institute. [...] 8. Hemophilia. Mayo Clinic. 9. Muscular Dystrophy. Mayo Clinic.

• Identifying a Genetic Disease - Gene & Cell Therapy Education

  For recessive disorders it takes two mutated copies of the gene for a person to have a genetic disorder. However, carriers may pass along the disorder to their child—if both parents are recessive carriers of a mutated gene. Autosomal dominant is a pattern of inheriting a genetic mutation that is located on one of the non-sex, numbered chromosomes (autosomal) and a single copy of the disease-associated mutation from one parent is enough to cause disease (dominant). X-linked inheritance (see [...] image at left) means the genetic mutation is located on the X-chromosome which can be recessive or dominant inheritance. There are also de novo (new) mutations that can sometimes explain genetic disorders in which an affected child has mutations, but the parents do not and there is no family history of the disorder. [...] A carrier screen is a genetic test that determines if an individual is carrying a copy of the mutated gene known to cause disease; for example, sickle cell disease or spinal muscle atrophy (SMA). Being a carrier of a genetic disease is not uncommon. Most of the time, carriers don’t know that they are carrying a gene for a disorder and aren’t currently showing symptoms.