• Wondering which camera, gear, computer, or software to buy? Ask in our Gear Guide.

Online Resource

I am looking for some kind of online resource for genetic diseases. I am writing a script that the main antagonist has 1 or more genetic disease that have specific symptoms. I know what symptoms I want him to have but I don't know the specific disease or diseases. I need a resource that I can find a Genetic disease or disorder for him. Please help.
 
I found this after about 15 seconds on Google:

 
What you're looking for could be quite difficult. Is this based on a real-life sufferer of this disease? Genetic disorders create a very specific set of illnesses according to the genetic defect, usually of a "fundamental" nature, and it's unlikely that any random combination of observable symptoms can be retrospectively attributed to any one genetic disorder. If you want to list them here, I might be able to point you towards something approximating the problem you're looking for.
 
The symptoms I am looking for are: Physical deformities (malformations of the head), Chronic insensitivity to pain, decreased intellect (not stupid but below average), increased strength, and an inability to experience emotions (mainly guilt and remorse). Those are the symptoms i need in one or two genetic diseases.
 
Apart from the "increased strength" they're all signs of cretinism. There's a rare genetic cause, but it's usually of (maternal) dietary origin. Or at least it used to be. The genetic variant may be more "common" now by virtue of the fact that most table salt these days has iodine added to it.

If you don't mind trawling through dozens, or hundreds, of possible differentials, you can use this tool to identify the rare diseases that have each sign as a feature: https://www.findzebra.com/
Then you can read this diagnostic summary to see if it's likely that your character's condition would have been picked up or missed by his doctor.
 
Last edited:
Apart from the "increased strength" they're all signs of cretinism. There's a rare genetic cause, but it's usually of (maternal) dietary origin. Or at least it used to be. The genetic variant may be more "common" now by virtue of the fact that most table salt these days has iodine added to it.
Just looked it up not only is it missing the increased strength (or increased muscle mass) but also is missing the Chronic insensitivity to pain which is important for the character also I forgot to mention the person is abnormally large.
 
The more attributes you add in, the more difficult it'll be to find a disease that matches. Also, if you're going for maximum realism, you'll need to think of a lot more than just the symptoms. A genetic disease, by definition, is present at birth and if it affects either physical or mental growth, the signs will appear very early on in the child's life - so you'll have to have a back story to explain how/why the parents/doctors allowed the child to end up in whatever situation he/she now finds him/herself.

If you're dead-set on a genetic disease, this might create an inherent problem whereby one or both of the parents should be carriers of the gene, in which case you'll then need to double check the disease profile to see if they should have had identifiable problems.

You could take the easy way out and have had the foetus suffer ante-natal damage (mother exposed to radiation, drugs, some weird environmental concoction) ... but again, if you're going for maximum realism, you'll have to explain how/why no-one else had the same problem - and how the child survived to this age. Most of these multi-problem defects are pretty fatal to the individual.
 
The more attributes you add in, the more difficult it'll be to find a disease that matches. Also, if you're going for maximum realism, you'll need to think of a lot more than just the symptoms. A genetic disease, by definition, is present at birth and if it affects either physical or mental growth, the signs will appear very early on in the child's life - so you'll have to have a back story to explain how/why the parents/doctors allowed the child to end up in whatever situation he/she now finds him/herself.

If you're dead-set on a genetic disease, this might create an inherent problem whereby one or both of the parents should be carriers of the gene, in which case you'll then need to double check the disease profile to see if they should have had identifiable problems.

You could take the easy way out and have had the foetus suffer ante-natal damage (mother exposed to radiation, drugs, some weird environmental concoction) ... but again, if you're going for maximum realism, you'll have to explain how/why no-one else had the same problem - and how the child survived to this age. Most of these multi-problem defects are pretty fatal to the individual.
I did plan on explaining all that. I just needed the condition for it. This is planned as a 4 parter so I have time to explain it. I also don't need it be "maximum" realism but in the realm of realism. Btw Thanks for the help so far.
 
I'm not sure if this works, it touches on a few of those and is also an interesting subject: Gigantism (like Andre the Giant)... and it can be genetic, often not but can be and you are the writer. :)
 
Back
Top