Rare genetic disorders // Drug Repurposing

Rare genetic disorders

SMA promoImagine sitting in the doctor’s office with your beautiful baby boy or baby girl when the doctor walks in and tells you that your baby has between six to twenty-four months to live. The reason is three simple words- Spinal Muscular Atrophy (SMA).

You have a million thoughts and questions rushing through your head -wait! What exactly is SMA? How did my baby get this disease? Do lots of people have SMA? Will my baby have trouble learning? Will my baby….

Before I share my family’s story let me tell you what Spinal Muscular Atrophy (SMA) is.

SMA is the NUMBER 1 GENETIC KILLER of Children under 2 in the world.

Spinal Muscular Atrophy is a motor neuron disease. A what? A motor neuron controls voluntary muscle functions like walking, crawling, neck control swallowing and breathing. And, SMA takes all these away. Worse it takes away our smile…

SMA is an inherited genetic disorder. It is considered a common rare disorder with approximately 1 in 6000 babies born are affected, and about 1 in 50 people are genetic carriers. SMA is a rare disorder occurring in approximately 8 out of every 100, 000 live births, and affecting approximately 1 out of every 6, 000 to 10, 000 individuals worldwide.

This disease became a part of our lives on April 15th, 2013 when, after months of doctors appointments, our youngest Gabriel was diagnosed with SMA Type 2. What was supposed to be a simple forty-five minute appointment turned into a four-hour appointment. After more tests including physical exams, lab work, blood work and almost an hour of questioning, the doctor came in to tell us “Your son has SMA, enjoy your time with him…”

This is Gabriel and his Princess (Ms. Sherwood), this picture was taken at the Titanic Museum in Pigeon Forge TN

My husband and I are pretty sure she said other things after that but the shock pretty much floored us. All of this coming after months of seeing specialists and being told it was all in our heads. (YES, we were told that we were “imagining” something was wrong.) Despite seeing Gabriel loosing his ability to crawl, having trouble breathing, eating, not talking and so many other signs, it wasn’t until that April afternoon that we heard the final diagnosis.

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The myth that Jews are all descended from

by Ghost-of-Titus

Converts. Obviously any human is going to have an enormous pool of ancestors stretching back to Africa. Jews, DO mostly have semitic ancestors. Ashkenzim and PALESTINIANS suffer from the same RARE genetic disorders that simply don't show up in number in other populations.
Exactly the same gene is implicated in more than one such case. This is extremely unlikely unless.,.,
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by possum666

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by Helen_Back

Rare genetic mutations are known to increase the risk of autism and autism spectrum disorders (ASD). Now, researchers have identified new and common gene mutations -- also called gene variants -- that also boost the risk of the developmental disorders that affect an estimated one in 150 U.S. children.
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LAP LAMBERT Academic Publishing Rare genetic disorders in Iraq
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Rare genetic disorders diagnosed by computer analysis of photos  — Medical News Today
.. that can be treated." The team notes that it is believed between 30-40% of rare genetic disorders include some change in the face and skull, most likely because so many genes are implicated in facial and cranial development as a baby grows in the womb.

Scholars' Press Robinow Syndrome: Psychological Implications of a Rare Genetic Disorder
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National Geographic Rare Anatomy: Bones & Blood
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MyHeritageWear.com Genetic Disorders Awareness Ribbon Mouse Pad
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