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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?

  1. There is rare genetic variation (SNP rs121912617) that allows people to sleep 2 hours less a night with no ill effects.

  2. Elizabeth Taylor's apparent dark outlined eyes were due to a rare genetic mutation giving her "double eyelashes".

  3. Inbreeding and the rare genetic condition methemoglobinemia resulted in a blue-skinned family in Kentucky named the Fugates.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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

  9. 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.

  10. Urbach-Wiethe disease, a rare genetic disorder that damages the amygdala and causes people to be unable to experience fear.

rare genetic facts
What are some rare genetic disorders?

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.

Interesting facts about rare genetic

About the Fugates, a family which lived in isolation in the Kentucky Appalachians for over 150 years. Due to inbreeding, the family developed a rare genetic disorder called methemoglobinemia, which turned their skin blue.

Leon Botha: one of the world's oldest survivors of progeria (rare genetic aging disorder) and frequent collaborator with notorious South African rave-rap group Die Antwoord

A rare genetic mutation that causes all internal organs' positions to be mirrored. Individuals usually have no symptoms.

Kim Peek, the savant who inspired the film Rain Man, was not autistic. He had a condition called FG syndrome, a rare genetic condition caused by one or more recessive genes located on the X chromosome. This results physical anomalies and developmental delays.

There is town in Mexico where people get paralyzed, since they have one of the highest prevalence in the world of Spinocerebellar ataxia 7, a rare genetic disease which keeps your brain lucid, but trapped in a body that stops working

How rare am i genetically?

Chinese scientists have genetically modified human embryos, riding them of a rare but often fatal disease that is manifested at birth. The same technique could be used to correct virtually all genetic abnormalities in humans, but their paper was denied publication due to ethical concerns.

Some cheetahs have a rare genetic mutation that causes their coats to be more boldly patterned with big dark stripes and splotches. These cheetahs are called "king cheetahs".

It was discovered in 1995 that Dalton actually had a very rare form of colorblindness, a fact that Dalton himself studied in great detail and published on many times. He was one of the first to theorize that colorblindness was a genetic feature, as his brother was also colorblind.

Lesch-Nyhan Syndrome is a rare inherited genetic disorder that causes uncontrollable self injury starting at age 2 with biting of the lips and fingers. Virtually all patients are male and females carriers are usually asymptomatic but can transmit the trait to their male children

Inuit people have evolved a rare genetic adaptation that assists them in surviving on a high protein diet, which includes as a side effect, causing an altered level of consciousness due to improper liver function.

Some people (often males with African/Mediterranean ancestry) are predisposed to a rare genetic condition called 'favism', which leads to acute anemia upon consumption of fava beans.

Only 12 alligators in the whole world have a rare genetic condition that reduces the colour pigmentation in their skin. They are known as Albino Alligators

Ostrich People Of Zimbabwe: The Vadoma people suffer from a rare genetic condition called ectrodactyly - basically it gives them ostrich feet

About Spinraza, a drug used to treat a rare genetic disorder called Spinal Muscular Atrophy that costs $125,000 per injection or $750,000 a year.

According to the FDA, NCI, Mayo Clinic, and other reputable sources - Artificial sweeteners(Saccharin, Aspartame, Acesulfame, Potassium, Sucralose, and Neotame) are safe to consume and do not cause cancer - unless you are a rat and/or have a rare genetic disease called 'Phenylketonuria'. [Fixed]

Calico cats are nearly always female. Because of the genetics involved, calico males are rare, and generally have impaired vitality and are almost always sterile.

There is a rare genetic disease that literally keeps you from sleeping until you die.

"Stone Man Syndrome", Fibrodysplasia ossificans progressiva (FOP) This extremely rare genetic mutation causes fibrous tissue (muscle, tendon and ligament) to be ossified if damaged. People affected by FOP eventually become "frozen" into place. There is no cure yet.

Colorado City, Utah area has the world's highest incidence of "fumarase deficiency", a rare genetic condition which causes severe intellectual disability because of cousin marriage between descendants of 2 of the town founders. About half of the 8,000 inhabitants are descended from one or both.

This is our collection of basic interesting facts about Rare Genetic. The fact lists are intended for research in school, for college students or just to feed your brain with new realities. Possible use cases are in quizzes, differences, riddles, homework facts legend, cover facts, and many more. Whatever your case, learn the truth of the matter why is Rare Genetic so important!

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