OBJECTIVES Hearing impairment (HI) is the most common sensory deficit in human. The Gap Junction Protein, Beta-2 (GJB2) gene encodes the protein connexin 26, and this gene accounts for up to half of the cases of autosomal recessive nonsyndromic HI. This study was conducted to obtain a set of sequence variations (SVs) of the GJB2 gene among Koreans from the general population for making molecula...

Background: With advances in genetic and genomic medicine, the optimal integration of genetic services into the health care system remains of major concern in many countries. Objectives: To review the current organisation of genetic services, mostly in Europe, North America and Australia, explore emerging service delivery models, and probe challenges inherent in the transition process. Methods:...

I has approximately 1.5 billion followers worldwide, the majority of which live in the Islamic states, and an appreciable number live in non-Islamic states.1,2 In both environments, the Muslims maintain a “Code of Life”, in which they adhere to the instructions of Islam and respect it’s guidance in their daily living. Islam provides a “Code of Conduct” drawn from Al-Sharea’h, also known as the ...

Since the completion of the Human Genome Project, technology has developed markedly in fields such as medical genetics and genetic counseling in the medical arena. In particular, this technology has advanced the discovery of and ways of understanding various genes responsible for genetic diseases, and genetic polymorphisms thought to be associated with disease. Some have been implicated as fact...

Introduction. Women diagnosed with breast cancer at a young age are more likely to carry a cancer predisposing genetic mutation. Per the current NCCN recommendations, women diagnosed under age 50 should be referred to cancer genetic counseling for further risk evaluation. This study seeks to assess patient-reported barriers and facilitators to receiving genetic counseling and risk assessment am...

In Latin America, breast cancer is the most common malignancy in women, and limited available data suggest that up to 15% of all breast cancer cases in the region are hereditary. Genetic cancer risk assessment and counseling is a critical component of the appropriate clinical care of patients with hereditary breast cancer and their families. Unfortunately, genetic services are underdeveloped ac...

INTRODUCTION Deaf American Sign Language-users (ASL) have limited access to cancer genetics information they can readily understand, increasing risk for health disparities. We compared effectiveness of online cancer genetics information presented using a bilingual approach (ASL with English closed captioning) and a monolingual approach (English text). HYPOTHESIS Bilingual modality would incre...

During the last decade, advances in genetic technology have led to an explosion of identification genes associated with epilepsy. A diagnosis for individual epilepsy can clarify and predict prognosis, treatment options, need screen additional clinical features. Next-generation sequencing has enabled simultaneous a large number DNA segments. Using this technology, group is organized into panel a...

cancer-genetics epidemiology and genetics investigation in colorectal carcinomas: directions towards prevention