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Genetic diseases are caused by abnormalities in a person's DNA and can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.
These abnormalities can disrupt the normal function of a vital system. Genetic disorders come in all shapes and sizes and are often undiagnosed or diagnosed too late due to lack of awareness around genetic testing and its benefits. Almost every human trait and disease has a genetic component and there are more than 6,000 known genetic disorders, from widely recognized conditions to lesser known conditions.
The current researches in Genetic disorders:
a) How disruptions in signaling pathways and transcription factors contribute to genetic disease
b) Identification of 13 new gene sites associated with heart disease
c) RGS17 could be used to identify patients who would benefit from more aggressive lung cancer screening
d) Research on genetics behind Attention-deficit/hyperactivity disorder(ADHD) e) Gene mappings for four debilitating syndromes including Tukel Syndrome, a congenital eye disease that leads to blindness
f) Identification of key DNA lesions for diseases involving Cancer, Immunodeficiency, and severe birth defects
h)The identification of a susceptibility gene for prostate cancer
i) Identification of key DNA lesions for diseases involving Cancer, Immunodeficiency, and severe birth defects
Genetic Disease Foundation
National Human Genome Research Institute
American Association for Marriage and Family therapy
i. ACMG Annual Clinical Genetics Meeting held during March 25-29, 2014 at Nashville
ii. Genetic Disorders 2014: The Genomics of Rare diseases held during March 5-7, 2014 at Cambridge, UK
This page will be updated regularly.
This page was last updated on November 30, 2023