Rare Human diseases // Drug Repurposing

Rare Human diseases

rare variants in humansIn the ten years since the first draft of the human genome was published, our knowledge of the relationship between genotype and phenotype has grown exponentially. Perhaps the most important achievement of the genome assembly is that it provided a reference, against which individual DNA sequences could be compared to identify sequence variation.

The sequel to the Human Genome Project, the International HapMap Project, set out to build a map — specifically, a haplotype map — of common genetic variation in several world populations. And the sequel to that project, the 1, 000 Genomes Project, sought to characterize the nature and extent of genetic variation, especially variants that were rare (MAF

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Genetic and Rare Diseases (GARD) Information Center at NIH
Genetic and Rare Diseases (GARD) Information Center at NIH
10 Incredibly Rare Diseases
10 Incredibly Rare Diseases

Is it a liver disease?

by mew1025

Where metabolites build up and are toxic to the brain? Sounds like something I once did some research on in humans.
Nasty, anyway. These rare genetic diseases can pop up any time you are selecting traits, especially when the gene pool is small.
WE would get these family trees in (human), and would just look in disbelief at generations of intermarriage between cousins.

Republican shows rare moment of lucid thought

by old_poster_here

The GOP will likely kill him in the morning
SALT LAKE CITY (Reuters) - Utah Gov. Gary Herbert on Friday vetoed a controversial bill banning public schools from teaching contraception as a way of preventing pregnancy and sexually transmitted diseases.
The bill, which also sought to bar instruction on homosexuality or other aspects of human sexuality other than the teaching of abstinence, would have been the first of its kind in the nation if it had become law.
It had previously cleared Utah's Republican-controlled House and Senate, and Herbert was widely expected to sign it

Fr'kn Scientists screwing with god's will AGAIN!

by Snakebyte_XX

Cloned cats glow red in the dark
Cat's eyes are no longer the only things about them that glow in the dark, after scientists cloned a fluorescent feline.
South Korean Kong Il-Keun's team cloned cats after modifying a gene to change their skin colour.
One of the cats glows red under the ultraviolet light
The two Turkish Angora cats now glow red when exposed to ultraviolet light. The scientists believe the process could be used to develop treatments for human genetic diseases and could help reproduce rare animals.
To clone the cats, Kong's team used skin cells of the mother cat

University of Michigan Library Links between Agent Orange, herbicides, and rare diseases: Hearing before the Human Resources and Intergovernmental Relations subcommittee of the ... First Congress, second session, June 26, 1990
Book (University of Michigan Library)

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.

Springer Rare Diseases Epidemiology (Advances in Experimental Medicine and Biology)
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Longtail Distribution Network Body Wars
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