Discovering the gene

Anjum nazir

Member
Joined
Dec 31, 2017
Messages
25
Reason
PALS
Diagnosis
07/2018
Country
IN
State
JK
City
Srinagar
It is third year of my diagnosis as Pals...I did my clinical exome study with known genes for all neurological diseases ... unfortunately it came negative....I have a relentless disease which is lower motor neurone predominant..
I do not know the gene involved...please guide how can I get to know about it..
As earlier said i lost my mother and my aunt to Al's mnd and my other aunt to Parkinson's disease...
I would like Nikkij to guide me so that my kids who are merely 12 and 8 years old can plan the future generations .
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
8,911
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
About 30 percent of what are clearly FALS families have no currently identifiable genetic mutation. It is horrible to be in that position. I know. My family’s mutation was only discovered in late 2011 and confirmed as ours in 2012 when my sister was diagnosed.

not every kind of mutation shows up on standard sequencing. Mine does not. once the researchers found it there was a targeted test.

there is a lot of work being done in ALS genetics and they continue to chip away at that 30 percent. The ones they are finding now seem to be pretty rare each affected a small number of families which adds to the challenge.

if you were in the US I would tell you to send a sample of your blood to the researchers at Northwestern who are searching for these elusive mutations. I don’t think you can from there but perhaps you can bank a blood sample for future dna testing as more mutations are found.

I hope there are answers for your children before they want to start families. If there is a mutation known fertility methods now allow screening. If yours is still unknown they would have to decide with their partners on what to do. As you know there is a 50 percent chance for each that they do not carry whatever mutation you have.

none of this is easy I know
 
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