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While Voretigene has<br />
passed clinical trials and<br />
is now an FDA-approved THE CHILD’S BLOOD<br />
therapy, several other genetic SAMPLE WAS SENT<br />
therapy options for other FOR GENETIC TESTING.<br />
gene mutations for LCA are THE PANEL INCLUDED<br />
currently being researched in<br />
20 POTENTIAL GENES<br />
mouse models and cell lines.<br />
GUC2YD cDNA constructs IN WHICH A MUTATION<br />
in AAV vector, when subretinally<br />
injected in the BLINDNESS. THE RESULTS<br />
IS KNOWN TO CAUSE<br />
eyes of Gucy2e-/-Gucy2f-/- INDICATED A MUTATION<br />
knockout (GCdKO) mice, IN THE GUCY2D GENE.<br />
have been shown to evoke<br />
scoptopic and photopic<br />
ERG responses. In a slightly<br />
different approach, researchers are also attempting to use<br />
Antisense Oligonucleotide-Based Splicing Correction to allow<br />
normal protein expression in case of CEP290 gene mutations.<br />
Results have been promising so far for human cell lines and<br />
in CEP290 mutant mouse models. However, these studies<br />
still need to undergo clinical trials and obtain<br />
human use approvals, and are currently far<br />
from reaching the patient’s bedside.<br />
To confirm the diagnosis of LCA and to<br />
identify the genetic mutation in the fourmonth<br />
old baby, paediatric neurologist Dr.<br />
K. N. Shah sent the child’s blood sample for<br />
genetic testing using the LCA panel. This<br />
panel included 20 potential genes in which<br />
a mutation is known to cause blindness. The<br />
results indicated a mutation in the GUCY2D<br />
gene. Since, currently there is no therapy<br />
for the GUCT2D mutations, no treatment<br />
is possible for this baby. However, there<br />
is a large potential for the evolution of a<br />
treatment for the condition in the future, and<br />
it is likely that therapeutic options will start<br />
becoming available going forward.<br />
DR SHIVANEE SHAH<br />
<strong>NOVEMBER</strong> <strong>2018</strong> / FUTURE MEDICINE / 39