Rare Genetic facts
While investigating facts about Redheads Are Genetic Superheroes and Rare Genetic Disorders, I found out little known, but curios details like:
A woman who is literally fearless due to a rare genetic condition known as Urbach-Wiethe disease that hardened her amygdala - part of the brain responsible for fear response. Researchers exposed her to potentially terrifying experiences and none of them scared her.
how rare am i genetically quiz?
Williams syndrome, a rare genetic condition characterized by a distinctive cheerful and endearing personality, heightened social skills and friendliness, but poor visuo-spatial ability and heart problems.
What is a rare genetic disorder?
In my opinion, it is useful to put together a list of the most interesting details from trusted sources that I've come across answering rare genetic disorders. Here are 50 of the best facts about Rare Genetic Diseases and Rare Genetic Mutations I managed to collect.
what is the most rare genetic disorder?
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There is rare genetic variation (SNP rs121912617) that allows people to sleep 2 hours less a night with no ill effects.
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Elizabeth Taylor's apparent dark outlined eyes were due to a rare genetic mutation giving her "double eyelashes".
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Inbreeding and the rare genetic condition methemoglobinemia resulted in a blue-skinned family in Kentucky named the Fugates.
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Patient S.M, a female with a rare genetic disease leading to an inability to experience fear in her life. Additionally she experiences little negative emotion and has no sense of personal space; experiencing no discomfort standing nose to nose with strangers whilst making direct eye contact.
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Fibrodysplasia ossificans progressiva, a rare genetic disease that gradually turns your entire body into bone. Surgical removal of the bone only causes more bone to grow in its place.
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Genetic sexual attraction,where people with similar genes tend to be mutually attracted. This is often cancelled by the Westermarck effect:children raised together rarely become mutually attracted when older. Thus,separated siblings who reunite as adults have a high risk of sexual attraction.
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Danny Devito has a rare genetic disorder that affects bone growth called Multiple epiphyseal dysplasia. MED causes short stature in adults, short arms and legs, joint pain, deformities in the hands, feet and spine and early osteoarthritis.
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About Jeremy, the snail with a rare genetic mutation which caused its shell to coil counterclockwise. Due to the unique positioning of its reproductive body parts, it couldn't mate with other snails and there was a search to find another 'lefty' snail
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A family of people with blue skin lived in Kentucky for many generations. The Fulgates of Troublesome Creek are thought to have gained their blue skin through a combination of inbreeding and a rare genetic condition known as methemoglobinemia.
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Urbach-Wiethe disease, a rare genetic disorder that damages the amygdala and causes people to be unable to experience fear.
Why are genetic diseases rare?
You can easily fact check why are genetic diseases rare in humans by examining the linked well-known sources.
The patient S.M., a female who had a rare genetic condition which caused the destruction of her amygdala, had no capacity to experience fear or anxiety, even when held at gunpoint.
There's a rare genetic disorder known as testotoxicosis. As the name implies, it only affects males. Affected men will reach puberty at just 2 or 3 years old. - source
Bosnian Croats have the genetic potential to be the tallest population in the world, the average Herzegovinian man can grow to 6'3 (190cm) but they rarely reach that height due to poverty and malnutrition. - source
Williams Syndrome, a rare genetic disorder that causes individuals to have a very sociable and friendly personality. It is often called the opposite of autism.
In 2007, a Swiss woman was unable to enter the U.S. because she had no fingerprints. She had a rare genetic disorder called "Adermatoglyphia" or "Immigration Delay Disease", where a person is born without fingerprints. It is only known to occur in 4 extended families on earth. - source
When is a condition considered rare?
Legendary bodybuilder Flex Wheeler is renowned for having a perfectly symmetrical body. It was discovered that he has an extremely rare genetic disorder - the ‘exon 2’ gene. This allows him to build twice the amount of muscle compared to a normal person
How rare are my genetic traits?
Fatal familial insomnia, a rare genetically inherited disease that causes the person to die because they literally cannot sleep. There is no cure, and the average survival span following onset of symptoms is 18 months.
While rare, half red and half green apples do occur as a result of genetic mutation.
Uner Tan Syndrome is a rare genetic disorder causing people to walk on all fours.
The rare genetic condition myostatin-related muscle hypertrophy can give babies and toddlers the ability to perform amazing feats of strength. One such case was Liam Hoekstra, who could perform upside-down situps, and could lift himself into an Iron Cross position across his mother's hands.
King Tut suffered from a myriad of health conditions bc his parents were brother and sister. He had a club foot, feminine hips, an overbite, pronounced breasts, and a rare genetic condition called Kohler’s disease. He was significantly deformed and led a life of intense physical suffering.