genetic-disorder

Alexandria’s genesis is a genetic disorder that is mostly found in females and was discovered in 1960.

The first case of this disorder, Alexandria Augustine, was born in 1329 in London-England. At that time, the disorder wasn’t discovered yet as a “genetic mutation” therefore, her parents thought she was possessed. Alexandria gave birth to four girls, who also carried the disorder and died after 100 or so years due to natural causes.

People who have Alexandria’s genesis are born with blue/grey eyes. After 6 months of birth the eye color starts to change to purple. The change from the original color to purple completes at the age of one year and then starts darkening. The baby grows with extraordinary body characteristics, namely; pale skin that is resistant to burning and tanning, perfect eye vision, fast metabolism resulting in maintaining the ideal body weight (no weight gain), produce almost no waste, a well-developed body, and an amazingly strong immune system that resists every disease known to human kind.

When the person hits puberty, the eye color change completely stops. The only hair that grows on the body is what the person was born with, which is either black or dark brown, (head hair, eyebrows, eyelashes, and hair that is found in ears and nose) in other words, no body hair, no facial hair, no pubic hair or even anal hair. Females carrying this disorder do NOT menstruate even though they are fertile and they give birth to children carrying the disorder. 

At the age of 20 or so, the growth process starts slowing and completely stopping at the age of 40 or 50 allowing the person to live a long life span up to 170 years!

New Tool Pinpoints Genetic Sources Of Disease

Scientists have shown a connection between the “map” of genes in the genome and the “map” of reversible chemical changes to DNA, the epigenome.  Their finding could help disease trackers find patterns in those overlays that could offer clues to the causes of and possible treatments for complex genetic conditions.

India’s One-Eyed Goat

The goat was recently born in Perundurai, Erode, India. Its owner, Kandasamy, said that in his 10 years of breeding goats, this is the first time he has encountered this. “I have never witnessed such an incident in the past. A female goat gave birth to two calves, one of whom has just one eye right in the center of its forehead.”

According to Dr. K. Asokan, Coimbatore VOC Park Zoo’s director, the goat’s unusual appearance was caused by a genetic disorder. “It’s rare to see such goats in the villages,” Dr. Asokan said.

Angelman Syndrome

Angelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. It is a neuro-genetic disorder characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.

An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing so it is no longer the accepted term, though it is sometimes still used as an informal term of diagnosis. People with AS are sometimes known as “angels”, both because of the syndrome’s name and because of their youthful, happy appearance.

Those with the syndrome are generally happy and contented people who like human contact and play. People with AS exhibit a profound desire for personal interaction with others. Communication can be difficult at first, but as a child with AS develops, there is a definite character and ability to make themselves understood. People with AS tend to develop strong non-verbal skills to compensate for their limited use of speech. It is widely accepted that their understanding of communication directed to them is much larger than their ability to return conversation. Most afflicted people will not develop more than 5–10 words, if any at all.

Unfortunately there are no known cure.. Although there are studies being done right now, it is far from human testing.

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I’m Jaye, I’m 20 years old, and I have a genetic disorder called Multiple Epiphyseal Dysplasia. It was Friday yesterday for me, but I’m posting this now anyway. I was pretty busy because it was a hospital day, I got a bunch of x-days done and had a follow-up with my surgeon, who performed both my total hip replacements in 2013.

I don’t use my wheelchair much – usually when I’m out at big sort of events that don’t have a lot of seating and things like that, or after surgeries or if I’ve been injured. But I might need to use it more in the future, I think. Also, I can only wear those cute shoes when I’m in it because they’re too tall for me to walk in. I do use my cane every day though. I can walk fine without it, but when I’m out I need it for stability and using it helps with the pain.

There’s been some arguments against this day, and the one that stood out to me the most was someone who said that the event should be cancelled because disability is too wide a term to apply to so many different people with different experiences and it needed to be rethought and revised. But for me, that’s one the most important points about #NoShameDay. Defining disability in itself is difficult, and has gone through changes over time already, and will continue to do so. There’s also intersection between different kinds of disabilities.

What is happening here is the demonstration of the fact that there is a huge amount of diversity among people with disabilities, in regards to their actual disabilities, their experiences, their feelings about it – it’s important to make that diversity visible and known. Medicine sees disability differently in some ways than academia does, or activism does, or general society does. There may always be problems with defining disability, but working on that can’t progress if there’s never any action towards it at all.

There is a short story by Ray Bradbury called “Remember Sascha?”. I found the story inside my ten cent copy of Quicker than the Eye that I’d bought at some second-hand shop years ago and felt oddly touched by the story of a young, romantic couple carrying on conversations with their unborn child, if only because I’ve been doing something quite similar for years.

Having been born with a genetic disorder, sex and having children is something that can never be spontaneous for me, for if I was to be in the family way I can end up sick and potentially die. Not to mention passing the disorder on. Lots of people have told me that I mustn’t worry or that I’m more than equipped to take care of a child with a disorder I’m familiar with, but I’m not sure I agree. There are so many variables. I’m afraid to have children, so I made one up.

His name is Ezra, and I know him as well as if he was real. It sounds mad, but I’m sure I’m sane—just a bit lonesome. In my mind, his hair changes color, but it’s always cut in a lopsided bowl-cut. He wears thick glasses, asks “why” way too much, and when he laughs, it crescendos into a high-pitched shriek.

I think the possibility of Ezra a lot, and the impossibility of him, too. Afterwards, I get up and continue on my day.

At my Cardiologist. Finally said I needed genetic testing for a Collagen Vascular Disease or a Connective Tissue Disorder like EDS. Just happy someone finally listened to me and cared, since the last Cardiologist I saw kept telling me my tachycardia, irregular heartbeat, constant orthopedic injuries, GI problems, and neurological problems were normal. I’m hoping this will alleviate some stress for my mother since she’s been feeling helpless against these mysterious symptoms that keep appearing.

Glowing Vulcan ears reveal brain’s lost neurons

These glowing shapes aren’t the ears of a rave-happy Vulcan - they’re slices from a mouse’s brain.

The slice on the right is from a mouse that lacks a gene called Arl13b - the same gene whose mutation causes Joubert syndrome in humans. This is a rare neurological condition that is linked with autism-spectrum disorders and brain structure malformations.

Without Arl13b, the nerve cells known as interneurons can’t find the right destination in the cerebral cortex during the brain’s development. Since the interneurons don’t end up in the right places, they can’t be wired up properly later on. This causes the disrupted brain development, typical of Joubert syndrome, visible in the image on the right.

The researchers hope that their findings will lead to better treatments for people who have the syndrome. 

“Ultimately, if you’re going to come up with therapeutic solutions, it’s important to understand the biology of the disease,” says Eva Anton of the University of North Carolina in Chapel Hill, who worked on the research, which was published in Developmental Cell last week.

What is Progeria?

Progeria: A rare genetic disorder that causes children to age prematurely. The classic type of childhood progeria is Hutchinson-Gilford syndrome, which is commonly referred to as progeria. It is characterized by dwarfism, baldness, pinched nose, small face and small jaw relative to the head size, delayed tooth formation, aged-looking skin, diminution of fat beneath the skin, stiff joints, and premature arteriosclerosis. Children with the progeria syndrome usually appear normal at birth. However, within a year, their growth rate slows and their appearance begins to change and age prematurely. They often suffer from symptoms typically seen in elderly people, especially severe cardiovascular disease. Death occurs on average at age 13, usually from heart attack or stroke.

A Boston lobster fisherman caught this rare (1 out of 75 million) lobster that has a perfect split down the middle orange and black. Coincidentally, this Halloween style 1lb female lobster was shipped to the Boston Aquarium on Oct 31 and represents something that I would love to eat with a side of candy corn.

“… scientists believe this occurs during a cellular division when the lobster egg is first fertilized, the aquarium said.”

(via Lobster dressed up for Holloween in orange and black - Boston.com)

Sam Berns dies at 17; subject of film about genetic condition progeria

A rare genetic condition that accelerates aging, progeria affects 200-250 children worldwide. They live an average of 13 years and die of diseases that usually affect aging adults. As toddlers, they start to lose hair and body fat, their joints stiffen, and become prone to dislocating their hips and suffering strokes.

Despite his prognosis, Sam remained consistently upbeat – focused on what he could do, rather than what he couldn’t.

Rest in peace.

26 February 2014

Poor Housekeeping

Most people born with Niemann-Pick type C1 (NPC1) die before the age of 20. That’s because this rare genetic disease impairs their cells’ ability to process cholesterol and other energy-storing molecules, leading to destructive accumulations in the liver, spleen and brain. But scientists have now discovered something else that contributes to NPC1: impaired autophagy – problems with the housekeeping process by which useful molecules are recycled and problematic ones cleared away. Pictured are cells from a diseased mouse with nuclei (stained pink) surrounded by aggregates of a protein called p62 (green), a sign of faulty autophagy. When this happens, cells get clogged with devastating amounts of trash. Unfortunately, the researchers found that at high doses, an experimental drug that could treat cholesterol accumulation also disrupts autophagy. By keeping the dose low and combining it with compounds that stimulate autophagy, however, it might be possible to solve both problems.

Written by Daniel Cossins

Image courtesy of Sovan Sarkar and colleagues
Whitehead Institute for Biomedical Research, MIT
Copyright held by original authors
Research published in Cell Reports, November 2013

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My name is Amanda, I’m 26 years old, and I have Ehlers Danlos Syndrome - a genetic disorder of the body’s collagen, which can cause dislocations of every joint you can imagine (and some you can’t), as well as issues with your internal organs.

My knees, hips, wrists, shoulders, tail bone, and ribs all regularly dislocate. I’m no longer able to walk without some type of aid. I am in constant pain that no meds can even touch, and have developed severe anxiety and depression because of it. I’ve also begun fainting and just this week had a heart monitor surgically implanted (you can see it in the first pic). I had to drop out of college 2 credits shy of graduating because my brain fog made it impossible for me to follow lectures. Most of my friends have drifted away because I’m too much of a “debbie downer.”

It’s taken me years to come to terms with this and realize THEY’RE the ones in the wrong. There is no shame in having a disability and people who try to throw doubt my way or avoid me simply because of my disability aren’t worth the little energy I have. #noshameday