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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness , followed by peripheral vision loss and progressing to loss of central vision later in life.
Simon suffers from the rare genetic disorder choroideremia: a condition that leads to progressive deterioration in eyesight, and in its later stage, blindness. [20] He co-founded, and works as a trustee for, the Choroideremia Research Foundation. [21] In January 2014, Simon donated a kidney to Labour MP Khalid Mahmood. [22]
Foundation-funded scientists at institutions throughout the world conduct research for the entire spectrum of retinal degenerative diseases including: retinitis pigmentosa, macular degeneration, Usher syndrome, Stargardt disease, Best disease, choroideremia, retinoschisis, Leber congenital amaurosis, Bardet–Biedl syndrome, cone dystrophy, cone-rod dystrophy, rod–cone dystrophy ...
In October 2011, the first clinical trial was announced for the treatment of choroideremia. [12] Dr. Robert MacLaren of the University of Oxford, who lead the trial, co-developed the treatment with Dr. Miguel Seabra of the Imperial College, London. This Phase 1/2 trial used subretinal AAV to restore the REP gene in affected patients. [13]
Choroideremia is caused by a loss-of-function mutation in the CHM gene which codes for Rab escort protein (REP-1). REP-1 and REP-2 (a REP-1 like protein) both help with the prenylation and transport of Rab proteins. [6] Rab27 has been found to preferentially depend on REP-1 for prenylation, which could be the underlying cause of choroideremia. [7]
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Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
That was the conclusion of Gray’s clinical research trial in which adaptive disclosure therapy was used with 44 active-duty combat Marines with PTSD and moral injury. In six 90-minute sessions, Gray found that the Marines experienced “substantive” improvement in their symptoms.