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Rare Genetic Diseases In Humans



Rare Genetic Diseases In Humans – In rare cases, an error in a person’s genetic code can cause certain physical deficiencies. Here we’ve collected some interesting, and sometimes disturbing, examples of genetic physical conditions from around the world.

Before reading, please note that some of these images are disturbing. You have been warned!

Rare Genetic Diseases In Humans

Rare Genetic Diseases In Humans

So, without further ado, here are some rare genetic disorders from around the world. This list is not exhaustive and not really organized.

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Although this photo looks photoshopped, it’s actually an amazing genetic freak. A condition called polydactyly (“many fingers”) is hereditary.

For this reason his son also received this form and has 12 fingers and toes. Unlike his father, these tumors were operated on when he was young.

, can be found in various species of animals as well as in humans – although it is rare.

Here is an interesting rare genetic condition that can affect people. Again one can believe that such a situation could be, it is.

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, this strange genetic disorder causes a person’s ulna to retract and fingers not to form. This often results in people having seven or eight fingers on one hand.

As we have already seen, a person’s hands and fingers can be very sensitive to burning conditions which leads to very strange phenomena. In this case, this condition reduces the number of fingers from “normal”.

In this picture the man has only four fingers and the index finger where his thumb should be. This condition is called genetic

Rare Genetic Diseases In Humans

Here is another interesting genetic condition in humans. In this case, this person has not one but two tiaras or tiaras on his head.

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In this case, several crowns grow parallel and allow the natural mohawk to grow easily. Every year there is a silver lining as they say.

Such elongated structures are called plica fimbriata and fortunately they are completely harmless. However, sometimes they can get stuck in your teeth.

You might have to look closely at this image to understand what’s going on here. As you can see, they can actually stretch their fingers back where they can touch and hold objects.

Hypermobility syndrome is common in children. Every parent will vividly remember the softness of their bundle of joy when they were little.

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It is amazing that this person was born with a lot of cartilage in their nose. This allows them to break easily.

Apparently, they didn’t even get nosebleeds! Could this be a step in our evolution? probably not.

In this interesting genetic condition, this person’s pinky finger is the largest finger on their hand. This heel-to-toe monster will come in handy in some situations.

Rare Genetic Diseases In Humans

, this disease causes abnormal growth of some fingers. In some cases it can affect the entire hand and forehead.

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It is rare and often affects the index finger, although not always. It is usually treated with surgery and amputation is often recommended.

Although you can’t tell the problem from this picture, this guy was born with a condition where he can’t bend one of his fingers.

This condition, known as “trigger finger,” is caused by tendons that often leave the finger swollen and locked. Technically called stenosing tenosynovitis, it usually affects the thumb or ring finger.

In this sad picture, this child is born with not one but two faces. This species is called Diprosopus and is rare.

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Also known as cranial duplication, it duplicates part or all of the face during fetal development. This is caused by abnormal activity in the protein SHH (Sonic Hedgehog).

As you can see from this picture, this man has a real life skull growing on his head. A disease called cornu cutaneum, this horn is a large lump of skin.

The disease is rare and the resulting lesions are usually minimal. However, in some rare cases, especially if left untreated, these warts can become very large.

Rare Genetic Diseases In Humans

For example, a French woman named Madame Dimanche was able to grow a tree 25.4 cm tall.

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In the sad picture, you can actually see a real person cycling. This is another rare genetic disease and is characterized by human embryos not developing properly.

A condition called cyclopia (for obvious reasons) occurs when the “embryonic” eye path does not divide into two apertures. Interestingly, although it is low in humans, it can be high in animals.

And finally, this genetic disease causes people’s feet to grow in the wrong direction. This condition is rare but can be easily treated with surgery and/or prosthetic repair.

When this woman, named Wang Fang, was born, she feared that she would not be able to walk properly as an adult. But, as it happened, he learned to walk perfectly. Progeria is a rare disease that causes a child’s body to age prematurely. For decades, Leslie Gordon has dedicated herself not to being a professor of pediatrics, but to finding a cure. He has reasons for his research: In 1998, his son Sam Burns was diagnosed with progeria.

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“Babies born with progeria look great,” he tells CGTN’s RAZOR, “but in the first year they start to grow. They don’t grow well, they’re very thin, they lose hair, joints… they have contractions, they have bone problems.”

Their brains are intact, which means they can go to school and interact with their peers, but early heart disease means children with progeria die on average by age 14.

Faced with a race against time and well aware that little research had been done in this area, Gordon and her husband, fellow pediatrics professor Scott Burns, founded the Progeria Research Foundation to “get the job done.”

Rare Genetic Diseases In Humans

He raised money and started a medical research committee. “We were able to discover the gene mutation that causes progeria, which led to the world’s first clinical trial and the first approved treatment for progeria,” says Gordon.

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Sam Burns and his parents Leslie Gordon and Scott Burns, who founded the Progeria Foundation. / Burns-Gordon Family

Meanwhile, Sam Burns became world famous for his love, awakening speech before and after his death in 2014: his TED Talk My Philosophy for a Happy Life has more than 45 million views.

Each of us has about 25,000 genes, and single letter changes in our DNA can cause genetic diseases. In this case, a protein called lamin-A turns into progerin—a protein that we all have, that is normally produced at higher levels as we grow older, but in children with progeria, it is 100 times higher than normal.

“Once we understood that we were able to look at the causes at the genetic level, at the protein level, at the biological level—and did a lot of cool stuff,” says Gordon. And another possibility is gene editing – detecting and correcting changes in normal DNA sequences.

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Leading the search for a “primary editor” is David Liu, a professor at the Broad Institute at MIT and Harvard — and he says he was inspired by Gordon’s son.

“I saw a TV interview with Sam Burns and that planted the seed of realizing that progeria is a terrible genetic disease,” he tells Razor. “Children with progeria are wonderful, thinking, talking, wonderful people who all know they will die sooner than their peers.”

“David came to a scientific meeting in 2018,” Gordon recalls, “and he had already done some good work showing that he could correct the mutation in the cells of children with progeria. And we talked about it. A big way forward..”

Rare Genetic Diseases In Humans

This led to various collaborations and the first results of experiments in mice with the human progeria gene have been very positive. By injecting mice, Liu marveled at the results.

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“It lasted two-and-a-half years longer—it was hard to believe, to be honest,” he says. “We were really surprised that a single injection into the central nervous system extended the lifespan of these mice.”

Progeria mice injected with the original editor, right, lived twice as long as the control group, left. /CGTN

It’s early days, but the possibilities are clear and vast. “I understand that a rat is not a child, and transferring something from rats to children is a big deal,” Gordon admits. “But we see incredible potential. I hope that if we look at this significant improvement as a potential treatment option, we can continue to bring it into the clinic, into pediatric trials.”

Liu admits that “there are many

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