Publications by authors named "Ola Aleme"
Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2013, the Israeli Carrier Screening Program has been offered routinely and free of charge to all Israelis of reproductive age, personalized based on religion, ethnicity, and village/tribe where a disorder is frequent. This study evaluated the impact of two educational tools on an informed choice on RGCS uptake and satisfaction with counselling within a heterogeneous population in northern Israel.
View Article and Find Full Text PDFMutated MCM9 has been associated with primary ovarian insufficiency. Although MCM9 plays a role in genome maintenance and has been reported as a candidate gene in a few patients with inherited colorectal cancer (CRC), it has not been clearly established as a cancer predisposition gene. We re-evaluated family members with MCM9-associated fertility problems.
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- The study focused on the genetics of hearing loss in Northern Israel's Arab population, emphasizing the impact of consanguineous marriages and large family sizes.
- A total of 168 families from 46 villages were screened for founder variants, revealing that 20% of them had deafness linked to specific genetic variants.
- The research highlighted difficulties in interpreting gene variants affecting hearing, particularly for the MYO15A gene, which was investigated using minigenes to understand how certain mutations lead to hearing loss.