Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in the United States have the disease.
The fact is we can inherit certain health conditions from our mother and father that can impact us throughout our lifespan. Understanding our genetic risk for certain diseases is important because knowledge is power, and the more we know, the better we can be at making proactive choices to care for our health!
A condition is considered Y-linked if the altered gene that causes the disorder is located on the Y chromosome, one of the two sex chromosomes in each of a male's cells. Because only males have a Y chromosome, in Y-linked inheritance, a variant can only be passed from father to son.
RPI Deficiency
This is considered to be the rarest disease in the world. Ribose-5-Phosphate Isomerase (RPI), is a crucial enzyme in a metabolic process in the human body. This condition can cause muscle stiffness, seizures, and reduction of white matter in the brain.
A rare genetic disorder is often defined as a disease or condition that affects fewer than 200,000 people in the United States. Rare diseases are not as rare as most people think – more than 7,000 have been identified so far. Approximately 4% of the global population, or 300 million people, live with a rare condition.
Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. A girl with Turner syndrome only has 1 normal X sex chromosome, rather than the usual 2. This chromosome variation happens randomly when the baby is conceived in the womb.
Huntington's disease and Marfan syndrome are two examples of autosomal dominant disorders.
For example, Down syndrome (sometimes referred to as "Down's syndrome") or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. There are many other chromosomal abnormalities including: Turner syndrome (45, X0), Klinefelter syndrome (47, XXY), and.
Genetics. ADHD tends to run in families and, in most cases, it's thought the genes you inherit from your parents are a significant factor in developing the condition. Research shows that parents and siblings of someone with ADHD are more likely to have ADHD themselves.
ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations. In the past decade, hundreds of genes have been identified that contribute to the serious deficits in communication, social cognition, and behavior that patients often experience.
Angelman syndrome
A rare syndrome causing physical and intellectual disability. It can't be cured, but some therapies can improve the quality of life of those affected....
Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease.
Some of the more common single-gene disorders include cystic fibrosis, hemochromatosis, Tay-Sachs, and sickle cell anemia.
Cardiovascular disease is the top cause of death globally. In the map we see death rates from cardiovascular diseases across the world.
Females normally have two X chromosomes (XX). A female inherits one X chromosome from her mother and one X chromosome from her father. Males normally have an X and a Y chromosome (XY). A male inherits an X chromosome from his mother and a Y chromosome from his father.
We inherit more genes from our maternal side. That's because it's the egg, not the sperm, that hands down all of the mitochondrial DNA. In addition, the W chromosome has more genes.
All men inherit a Y chromosome from their father, which means all traits that are only found on the Y chromosome come from dad, not mom. The Supporting Evidence: Y-linked traits follow a clear paternal lineage.
Autosomal recessive diseases typically affect both females and males equally. Autosomal recessive patterns manifest by skipping generations as the affected are usually children of unaffected carriers. It is also common to see affected individuals with unaffected offspring.