Posts Tagged ‘ disease ’

Spectacular Genetic Mutations.


When you think of the two words “genetic abnormality” there aren’t many positive things that come to peoples minds.  Maybe The X-Men, vitiligo, or bring born with an extra finger or something is the stereotype… but while these things may happen, there are some quite eye catching, scene stealing, jaw dropping, and attention grabbing rarities that make you wish you were a little less than normal.  Check out the top bunch below… also we threw in folks with 6 fingers, and vitiligo as bonuses for good measure.  (That’d be cool to be able to count to twelve on two hands). This post might inspire you to pursue a career in genetics or to become a scientist. The world of genetics is fascinating, to say the least. It can make you feel like you’re living in a sci-fi book, instead of on Planet Earth, and there are plenty of examples that make us go, “Wow, I can’t believe this is real.”

Mother And Her 1 Year-Old Son Have Very Uncommon Heterochromia Leaving Them With Beautiful And Mesmerizing Swirled Blue And Black Eyes

A Newborn Son Covered Head To Toe In White “Fur”

Proof That Vitiligo Changes From The Winter To The Summer

A Boy With Heterochromia – (differently colored eyes or eyes that have more than one color.)

He Was Born With One Of The Rarest Forms Of Belly Buttons In The World

Brazilian Family All Have 12 Fingers And Toes Due To Genetic Condition “Polydactyly”.

One Of The Coolest Birthmarks We Have Ever Seen.

Baby Chanco Was Born With A Lot Of Hair Which Kept Growing. This Is Her At 7 Months Age.

This Man Was Born Without Finger Or Toe Prints

Amina Ependieva Has Two Rare Genetic Conditions: Albinism And Heterochromia.

He’s 5 Foot 9, And His Wingspan Is 6 Foot 6.

How About A High 4?

8-Year-Old Carter Blanchard And Rowdy The Dog Both Have A Disorder Called Vitiligo.

And You Thought The Cruella Cut Was A Fake?

A Rare Genetic Disorder Known As Cat Eye Syndrome.

AND OUR WINNER…

In 2002, after applying for government assistance in the state of Washington, Lydia Fairchild was told that her two children were not a genetic match with her and that therefore, biologically, she could not be their mother. Researchers later determined that the genetic mismatch was due to chimerism, a condition in which two genetically distinct cell lines are present in one body. The state accused Fairchild of fraud and filed a lawsuit against her. Following evidence from another case of chimerism documented in The New England Journal of Medicine in a woman named Karen Keegan, Fairchild was able to secure legal counsel and establish evidence of her biological maternity. A cervical swab eventually revealed Fairchild’s second distinct cell line, showing that she had not genetically matched her children because she was a chimera. Fairchild’s case was one of the first public accounts of chimerism and has been used as an example in subsequent discussions about the validity and reliability of DNA evidence in legal proceedings within the United States. Chimeras are organisms that have two different sets of DNA, or the genetic material that contains instructions for the development and functioning of an organism, present in their bodies. Most organisms only have one set of DNA, which is present and identical in every cell throughout that organism’s body.

An organism gets approximately half of its DNA from each of its parents’ gametes, or their sperm and egg cells, which carry DNA from parent to offspring. In human reproduction, one sperm typically fuses with one egg to create a fertilized egg that can develop into a fetus. However, sometimes the ovaries, which are organs in the female body that produce and store eggs, release more than one egg at a time, a phenomenon known as hyperovulation. In such cases, two different sperm can fertilize two separate eggs released during hyperovulation, creating two genetically distinct fertilized eggs that can develop into non-identical twins. However, in some cases, those two fertilized eggs may fuse together during an early stage of development, resulting in a chimera made of two genetically distinct cell lines. As a consequence, instead of having cells with identical DNA throughout their body, a chimera has different DNA present in different parts of their body so that the DNA in their blood, for example, may not be the same as the DNA in their saliva. “I have two sets of DNA, two sets of blood and immune cells. The two colors of skin pigmentation on my torso is from my and my twin’s two different genetic makeups. My particular case of Chimerism is linked to autoimmune disease. I went undiagnosed for more than half my life due to the rarity of my condition. I’m now an advocate for Chimerism, it’s link to autoimmune disease and body positivity. My hope is to prevent others from going undiagnosed how I did.”

The Futures Of Prosthetics… Artificial Skin.


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The first time I watched the movie iRobot, I was transfixed on the concept of an injured person receiving a prosthetic that the rest of the world couldn’t detect.  (Spoiler Alert: Will Smith gets his arm ripped off by a robot in a car crash, but if you haven’t seen the movie already, you probably never will, so I just saved you $4.99).  The first and fundamental steps in developing a prosthesis like this is already out in the real world.  Soldiers, and civilians alike can have prosthetic limbs fashioned for them, and it’s no longer necessarily considered a miracle of science.  These prosthesis however are primarily for mobility only, they can’t feed the wearer any information about the surrounding environment.

Simply put before you step on something hot, you can feel it in the bottom of your feet. This is a functionality that the great folks over at Stanford are trying to bring to prosthetics, much like the skin surrounding our own limbs.  Artificial skin created in a lab can “feel” similar to the way a fingertip senses pressure.  The stretchy, flexible skin is made of a synthetic rubber that has been designed, to have  micron-scale pyramid like structures that make it especially sensitive to pressure, sort of like mini internal mattress springs.

Stanford scientists sprinkled the pressure-sensitive rubber with carbon nanotubes— microscopic cylinders of carbon that are highly conductive to electricity — so that, when the material was touched, a series of pulses is generated from the sensor.  The series of pulses is then sent to brain cells in a way that resembles how touch receptors in human skin send sensations to the brain.  “We were able to create [a system] very similar to biological mechanical receptors,” said Benjamin Tee, lead author of the paper and a scientist at the Agency for Science, Technology and Research in Singapore.

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To test whether the skin could create electric pulses that brain cells could respond to, the scientists connected the synthetic skin to a circuit connected to a blue LED light. When the skin was touched, the sensor sent electric pulses to the LED which pulsed in response. The sensors translated that pressure pulse into an electric pulses. When the sensors in the skin sent the electrical pulse to the LED (very much like touch receptors in real-life skin sending touch-sensation signals to the brain) a blue light flashed. The higher the pressure, the faster the LED flashed.

Scientists added channelrhodopsin, a special protein that causes brain cells to react to blue light, to the mouse brain cells. The channelrhodopsin let the LED light act like receptor cells in the skin. When the light flashed it sent a signal to the brain cells that the artificial skin had been touched.  The experiment showed that, when the artificial skin was touched, the brain cells would react in the same way as brains react to real skin being touched, the researchers said in the study, published Oct. 16 in the journal Science.

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Using light to stimulate brain cells is a fairly recent area of study called optogenetics, in which scientists add special proteins to brain cells that let them react to light and shows scientists how different parts of the brain work. The advantage of using optogenetics over other technologies that directly stimulate neurons, such as electrodes directly attached to brain tissue, is that higher frequencies can be used, Lee said. Having a technology that can stimulate the cells at higher frequencies is important because it more accurately recreates the way that receptor cells send signals to our brains.

The testing is still in the early phases, and the skin hasn’t been tested with human neurons as of yet.  Tee said to Live Science – “We actually did connect [the sensors] to a robotic hand and a computer,” adding that they were able to record the pulse spikes. However, these experiments were designed primarily to prove that the technology was able to send a signal that could be registered by the same robotics technologies used in advanced prosthetic technologies.  “The natural next step would be to test [the skin] in higher primates,” Tee said. “The eventual goal is to have the skin stimulate real human brains.”

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Ekso Bionic Suit


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Being paraplegic is a condition only those who are can understand the extent of. it Extends way beyond the body and affects all aspects of a person’s life at all times. When you are trapped in your own body, you are often forced to rely on others for the tiniest of tasks – some less pleasant to ask as a favor than others. However, the hardest deprivation mentioned by paraplegics is the inability to stand up. As a response, ekso bionics, a pioneer in the field of robotic exoskeletons has developed ‘ekso’, a wearable robot – or exoskeleton – that powers people with lower-extremity paralysis or weakness to get them standing up and walking. It is a ready-to-wear, battery-powered, bionic device that is strapped over the user’s clothing. When equipped with the assistive device, walking can be achieved by a forward lateral weight shift to initiate a step. Battery-powered motors drive the legs and replace neuro-muscular function. The first generation of ekso is intended for medically supervised use by individuals with complete or incomplete spinal cord injury (SCI) or disease, and other forms of lower extremity paralysis or weakness due to multiple sclerosis, amyotrophic lateral sclerosis, parksinson’s guillain barre or other neurological disease. With medical clearance, the suit can typically facilitate walking for individuals with up to C7 complete, or any level of incomplete spinal cord injury.

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neurological disease