Author Topic: Research NF1 and NF2  (Read 4157 times)

Windsong

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Research NF1 and NF2
« on: March 15, 2007, 08:40:31 am »
This fact sheet indicates how much research is happening for NF in the last ten years. Also I found a comment interesting in the Background section which says that 30-50% are spontaneous happenings? Has anyone else heard that?

Certainly a lot of research is happening when one looks at this.

I found it a while back but hadn't really looked at it until this morning, so thought I would post the site.


http://cdmrp.army.mil/pubs/factsheets/nfrpfactsheet.htm

Windsong

tony

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Re: Research NF1 and NF2
« Reply #1 on: March 15, 2007, 11:25:16 am »
Yes I would agree, about 50% of all NF2 do seem to be
"new" or "founder" outbreaks
the real issue is that the stats are so poorely collated
- our man in UK (Evans) has access to the entire NHS data
and the NF2 incidence is about 1 in 25,000 of the overall popluation
US stats suggest 1 in 40,000 - but the medical service
is so much more fragmented that the stats are near impossible to collate
- I think the US army is now starting/involved with
a research programme on this.
Best Regards
Tony

NF-2er

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Re: Research NF1 and NF2
« Reply #2 on: July 17, 2007, 10:45:49 pm »
Hi;

   Yes, 50/50 is the usual occurence rate of new and spontaneous mutations of the ( generally ) milder form, or "Gardner' variety of NF-2.
   It is also 50/50 for the more severe "Wishart" variety, which is congenital. There are currently listed 6 variants between the two forms.
   When calculating statistics, one must bear in mind whether birth rate, occurence rate, or prevelance rate.
   I have read re, unilateral AN, there are about 1 in 1,000 people who will develop an AN in their lifetime.
   I don't believe 50/50 is an absolute as the sperm donor may have a slight edge in being responsible for congentital NF-2 at 59% per one web site.
   There's much to be learned about this, the smalest of genes and first one cloned.

   NF-2er

NF-2er

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Re: Research NF1 and NF2
« Reply #3 on: July 19, 2007, 10:12:49 pm »
Hi;

   Error; "smallest of genes", should read, chromosome 22 is the smallest of all chromosomes.
   Sorry...

   NF-2er


 
Hi;

   Yes, 50/50 is the usual occurence rate of new and spontaneous mutations of the ( generally ) milder form, or "Gardner' variety of NF-2.
   It is also 50/50 for the more severe "Wishart" variety, which is congenital. There are currently listed 6 variants between the two forms.
   When calculating statistics, one must bear in mind whether birth rate, occurence rate, or prevelance rate.
   I have read re, unilateral AN, there are about 1 in 1,000 people who will develop an AN in their lifetime.
   I don't believe 50/50 is an absolute as the sperm donor may have a slight edge in being responsible for congentital NF-2 at 59% per one web site.
   There's much to be learned about this, the smalest of genes and first one cloned.

   NF-2er

Battyp

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Re: Research NF1 and NF2
« Reply #4 on: July 19, 2007, 10:26:15 pm »
interesting site windsong..thanks for sharing

 


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