Rare Diseases And Genetic Disorders

FASCINATING... i guess i dont have it so bad.... most of my genes apear to be operating... most, ALTHough i wonder about how well they are runnings?

and by what means they are all balanced and regulated,, for it would seem that it would be that system which is responsible for many of our problems.

-MT
 
What is sad is that people inflicted with these rare disorders have no scientific cure to turn to because the medical and pharmaceutical research industry have no financial incentives to devote to researching these diseases.
 
No financial incentives because it would cost a lot of money and help few people (since the disease is rare). It's probably morally sounder to save the most lives using the resources (money) available, and for now more lives can be saved by sending food aid to third world countries than researching cures for rare diseases.

I assume once we have fewer easily preventable deaths, society will start to tackle the more difficult to prevent ones...?
 
q0101 said:
I’ve been watching Primetime Medical Mysteries on ABC for the past couple of weeks. I thought that I was aware of all of the rare diseases and genetic disorders that existed, but I was wrong.

This is a list of some rare diseases and genetic disorders.

Aquagenous Urticaria

Trimethylaminuria

Moregellons

Progeria

Congenital Erythropoietic Porphyria

Fibrodysplasia Ossificans Progressiva
Click to expand...


Here is a question, a rhetorical question, are people who are genetically diseased and who share a disease, of the same "race".? Are there diseased races?

We usually focus on appearance when deciding race, but diseases often are of more genes than appearance.
 
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TimeTraveler said:
Here is a question, a rhetorical question, are people who are genetically diseased and who share a disease, of the same "race".? Are there diseased races?

We usually focus on appearance when deciding race, but diseases often are of more genes than appearance.
Click to expand...

Interesting question. I guess in a way, they might be, depending on how you classify such things.
 
Interesting AND disturbing genetic disease???

Harlequin Ichthyosis.

Ichthyosis involves several disorders:

http://www.scalyskin.org/column.cfm?ColumnID=13

Q: What is ichthyosis?
A: The ichthyoses are a family of genetic skin diseases characterized by dry, thickened, scaling skin.

Q: Is it contagious?
A: Ichthyosis is definitely not contagious. It is not caused by a bacteria, virus, or germs, and thus it cannot be passed from one person to another.

Q: How many types of ichthyosis are there?
A: Dermatologists estimate that there are at least twenty-eight varieties of ichthyosis, with a wide range of severity and associated symptoms.


Here is a link to Ryan Gonzalez who now is 19 or so with one of the worst forms of this disease (very probably a record longevity):
Man Survives Rare Skin-Shedding Disease
Harlequin Ichthyosis Usually Fatal At Birth

http://www.newsnet5.com/health/3922477/detail.html

Some of the worst case infants are very disturbing looking.

DISTURBING PICTURE:

http://162.129.70.33/images/Collodion_1_060327.jpg

There's also a video of a harlequin baby circulating under the name of Demon Seed or something like that. Foreign language. Not sure of origin (New Guinea???) It looks like it has hoofs or something instead of hands. Quite shocking, to say the least.

If anyone's seen Eraserhead, there is quite a similarity between the baby in that movie and these others.

Luckily, the most extreme forms are about 1 in 1 million births, so you're not likely to have a child with this disorder. Still, this should be enough to make any prospective parent(s) pause for thought. Sadly, that usually never happens, does it? :mad:
 
Genetic disorders.. ?

Alright what are your thoughts on genetic testing..i can't think of the actual wording of it.. but its like they can weed out genetic disorders.. threw prenatal testing.. or threw matching sperm and eggs that do not have the genetic disorders attached to them..

ie like should a person who has a genetic disorder (whatever it maybe).. have the right to decide and scientifcally pick out children who do not have the diease? either in a petri dish.. or abort fetuses that are carrying the diease?
 
I just watched an interesting documentary about a rare genetic disorder, that brought about research into it, that resulted in a genetic breakthrough that gets us closer to a specific genetic theory on why our brains suddenly got so much larger in such a short period of time in our evolutionary past.

It was on PBS... I'm pretty sure it was Nova.
 
TimeTraveler said:
Here is a question, a rhetorical question, are people who are genetically diseased and who share a disease, of the same "race".? Are there diseased races?
Click to expand...

Well I wouldn't quite use the term "diseased races" but of course some diseases are more prevalent almost to the extent of exclusive to certain races.

Take Tay-Sachs disease and he Jewish race for instance.
 
Disorders

Jewish is a religion, not a race. You're thinking of Jews who descended from those living in Ashkenaz.
 
Please provide me awareness and early diagnosis of Inborn Errors of Metabolism & Rare Genetic Disorders and support to affected individuals and families members.
 
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