A VERY IMPORTANT UPDATE CONCERNING CANTOR CHAIET’S RETINITIS PIGMENTOSA CONDITION – RP59
A recent genetic discovery of Cantor Chaiet’s Retinitis Pigmentosa genotype was made as of November 2022 – RP 59 done under the purview of Dr. Nupura Bakshi (Retinal Specialist) and Dr. Chantal Morel (Metabolic Geneticist). Buccal-cheek swab samples were sent to Advanced Genetic labs in Finland where the RP 59 gene was finally discovered. RP 59 is is homozygous for DHDDS c.124A>G, p.(Lys42Glu), which is pathogenic for visual loss – DHDDS c.124A>G, p.(Lys42Glu) is classified as pathogenic, based on currently available evidence supporting its disease-causing role. Retinitis pigmentosa 59 caused by DHDDS variants is inherited in an autosomal recessive manner. The patient is homozygous for the variant, which is consistent with autosomal recessive inheritance. Homozygous means that both patient’s parents (mother and father) are each confirmed to be carriers of this variant – any siblings of the patient will have a 25%chanceof being homozygous for the variant and have
a 50% chance of being an asymptomatic carrier. If you are a relative of Cantor Chaiet’s on either his mother’s or father’s side it is advised that you can also be genetically tested in order to determine if you carry the RP 59 gene. This will help to further research towards a treatment for this retinal dystrophy/disorder. In 2024-2026 the ongoing research is promising. You may contact Dr. Chantal F.J. Morel at the Fred A. Litwin Family Centre in Genetic Medicine (University Health Network & Mt. Sinai Hospital) at 416-586-4800 extension 4220 and/or fax 416-619-5523. For relatives there is no fee for this service and Dr. Chantal Morel has advised Cantor Chaiet to encourage family members to contact her office especially through this website.
https://www.uhn.ca/Medicine/Clinics/Genetic_Medicine_Clinic
https://www.uhn.ca/PatientsFamilies/Search_Doctors/Pages/doctor_detail.aspx?doctor=615
The Singer's Voice Cantor Stephen Chaiet 
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