Xeroderma pigmentosum is an autosomal recessive disorder that results in the skin’s inability to repair damage caused by ultraviolet light. This results in symptoms such as severe sunburn, development of excessive freckles, cry skin, blisters and corneal ulcerations. One of the most common causes of death in people with Xeroderma pigmentosum is skin cancer - specifically metastatic melanoma and squamous cell carcinoma.
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.
Fibrodysplasia ossificans progressiva (FOP) is a progressive genetic disorder that turns soft tissues into bone over time. The ACVR1 gene found in bone, muscles, tendons, and ligaments regulates growth and development of those tissues, and is normally responsible for turning cartilage into bone as children develop. However, mutations of this gene can allow ossification to go unchecked throughout a sufferer’s life, even turning skeletal muscle into bone and causing joints to fuse together.
This disorder occurs in about 1 in 2 million people, and there are currently no treatments or cures. Trauma exacerbates the condition, so attempts to remove bone surgically just results in the body producing even more bone in the area.
A new University of British Columbia study identifies an important molecular change that occurs in the brain when we learn and remember.
Published this month in Nature Neuroscience, the research shows that learning stimulates our brain cells in a manner that causes a small fatty acid to attach to delta-catenin, a protein in the brain. This biochemical modification is essential in producing the changes in brain cell connectivity associated with learning, the study finds.
In animal models, the scientists found almost twice the amount of modified delta-catenin in the brain after learning about new environments. While delta-catenin has previously been linked to learning, this study is the first to describe the protein’s role in the molecular mechanism behind memory formation.
“More work is needed, but this discovery gives us a much better understanding of the tools our brains use to learn and remember, and provides insight into how these processes become disrupted in neurological diseases,” says co-author Shernaz Bamji, an associate professor in UBC’s Life Sciences Institute.
It may also provide an explanation for some mental disabilities, the researchers say. People born without the gene have a severe form of mental retardation called Cri-du-chat syndrome, a rare genetic disorder named for the high-pitched cat-like cry of affected infants. Disruption of the delta-catenin gene has also been observed in some patients with schizophrenia.
“Brain activity can change both the structure of this protein, as well as its function,” says Stefano Brigidi, first author of the article and a PhD candidate Bamji’s laboratory. “When we introduced a mutation that blocked the biochemical modification that occurs in healthy subjects, we abolished the structural changes in brain’s cells that are known to be important for memory formation.”
According to the researchers, more work is needed to fully establish the importance of delta-catenin in building the brain connectivity behind learning and memory. Disruptions to these nerve cell connections are also believed to cause neurodegenerative diseases such as Alzheimer’s and Huntington disease. Understanding the biochemical processes that are important for maintaining these connections may help address the abnormalities in nerve cells that occur in these disease states.
This is “NOT” a male lion, but a female. Notice the small head like a lioness. She has a genetic disorder and she was recently darted by researchers to draw blood to check her DNA. She is confronted by other males to engage in combat etc. she can not reproduce and is a great predator, but she is a she! She is part of the Western Pride in Botswana’s Okavango Delta in Mombo. I first saw this maned lioness about 4 years ago.
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.
Researchers at Oxford University’s Institute of Genetics and Molecular Medicine have developed software that can detect the risk for genetic disorders in children, such as Down and Treacher Collins syndromes, just by scanning old photographs of their family members.
More than 7,000 rare genetic disorders are known, and although each is unique, there is at least one common thread: 30 to 40 percent of them involve detectable abnormalities in the cranium and face. The Oxford project, called Clinical Face Phenotype Space, builds on this knowledge, melding machine learning and computer technology to scan family photos and cross-reference them with a database built from images of people with known genetic disorders.
The Clinical Face Phenotype Space recognizes faces in photographs regardless of a person’s pose or facial expression, image quality, lighting variations or other factors.
Osteopoikilosis, or spotted bone, is a rare autosomal dominant bone disorder of unknown pathology seen incidentally on X-rays. It was initially described by Albers-Schonberg and Ledoux-Lebard and associates in the year 1915. It is usually detected as an incidental finding in X-rays taken for other conditions. There are multiple small (2–10 mm) well circumscribed round or oval areas of increased bone density widely distributed in periarticular areas. The distribution is symmetrical. It develops in childhood and persists throughout life. There is predilection for the epiphysis and metaphysis of the long tubular bones, carpus, tarsus, pelvis and scapula. Lesions of the spine, skull, ribs and scapula are rare. It should be differentiated from osteoblastic bone metastasis, osteopathia striata, melorheostosis and tuberous sclerosis. The oval lesions of osteopoikilosis are often oriented with their long axis parallel to the shafts of tubular bones.
It is usually asymptomatic, but in 15–20% of patients there may be slight articular pain and joint effusions.
The latest smear campaign that falsely portrays Planned Parenthood’s participation in tissue donation programs supporting lifesaving scientific research is not only an attack on Planned Parenthood, it is also an attack on women who, like me, have voluntarily decided to try to save lives through tissue donation after an abortion.
I was 10 years into a very successful career, my marriage was six years strong, and I was pregnant for the first time. I was at the top of my game — until, at one of my routine checkups, my ob-gyn couldn’t hear our son’s heartbeat. She explained my baby had died and that she was going to schedule a D&C because my body had not naturally eliminated the pregnancy.
In that moment of total crisis for my husband and me, my doctor also asked us a question that helped transform this devastating loss into one with meaning: She asked if we wanted to donate the tissue to an important research project on trisomy 21, a genetic disorder they discovered he had.
All these years later, the loss of our son still brings me more pain than I could have ever imagined. But knowing that we had an option that could lead to scientific discoveries to prevent other couples’ suffering down the line was a gift back to us. Some people may say that my experience was different because my procedure was done to complete a miscarriage. But medically speaking, it was an abortion — in fact, “abortion” is the procedure listed on my discharge form from the hospital.
In many areas of medicine, patients can decide to have tissue donated to help lead to medical breakthroughs. Why should women who have abortions at Planned Parenthood be treated differently?
9 Common Errors
Authors Make about Psychological Disorders
When writing a story, we want to write a dynamic character who is redeemable, likable but is authentic and possess flaws as well. We avoid writing a “perfect” example of a human being to deliver an interesting narrative.
But what some writers fail to do is to fully educate themselves on the said diagnosis they have given their protagonist.
Several psychologists cringe at the errors and wish that you would not belittle or twist their struggles.