About Anuska

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So far Anuska has created 14 blog entries.

2008

Prevalence* of FSHD estimated to be 4 per 100,000 by Orpha.net. Now estimated at 1 in 7,500

20082019-05-28T11:50:57+10:00

2007

FSHD Global Research Foundation established

20072019-05-28T11:50:42+10:00

2007

DUX4 is shown to be toxic to muscle cells and increased amounts of DUX4 are seen in muscle cells from people with FSHD

20072019-05-28T11:50:21+10:00

2003

The link between reduced D4Z4 regions and increased amounts of protein from genes in that area is first described.

20032019-05-28T11:50:06+10:00

1999

The DUX4 gene discovered

19992019-05-28T11:49:51+10:00

1998

Identical twins are discovered who have the exact same genetic mutation, but very different symptoms.

19982019-05-28T11:49:29+10:00

1996

FSHD Region Gene 1 (FRG1) is discovered beside the D4Z4

19962019-05-28T11:49:04+10:00

1994

Sequencing of the region associated with FSHD shows that it does contain a gene, but that the D4Z4 region does not.

19942019-05-28T11:48:43+10:00

1993

The region associated with FSHD is found to have multiple repeat units (D4Z4) with FSHD being associated with fewer than 11 D4Z4 units.

19932019-05-28T11:48:14+10:00

1992

FSHD is linked to recombination event that shortens a region in the 4q35 area

19922019-05-28T11:47:46+10:00