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Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. [1] The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. [1]
Indications for red blood cell transfusion. Transfusion therapy for sickle-cell disease entails the use of red blood cell transfusions in the management of acute cases of sickle cell disease and as a prophylaxis to prevent complications by decreasing the number of red blood cells (RBC) that can sickle by adding normal red blood cells.
Combined green: Definition of "sub-Saharan Africa" as used in the statistics of United Nations institutions Lighter green: The Sudan, classified as a part of North Africa by the United Nations Statistics Division [2] instead of Eastern Africa, though the organization states that "the assignment of countries or areas to specific groupings is for statistical convenience and does not imply any ...
In 2012 ivacaftor was designated as an orphan drug, identifying cystic fibrosis as affecting fewer than 200,000 people in the United States.On 31 January 2012, Vertex gained FDA approval [22] of the first drug, Kalydeco, [23] to treat the underlying cause of cystic fibrosis rather than the symptoms, in patients 6 years or older who have the G551D gene mutation.
Geneticist Antonio Torroni of the University of Pavia found the conclusions very convincing, adding that recent studies of cell nucleus DNA also show "a very close similarity between Ashkenazi Jews and Italians". [64] [9] [66] Diaspora communities were established in Rome and in Southern Europe centuries before the fall of the Second Temple in ...
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Cave paintings (such as this one from France) represent a benchmark in the evolutionary history of human cognition. Victorian naturalist Charles Darwin was the first to propose the out-of-Africa hypothesis for the peopling of the world, [41] but the story of prehistoric human migration is now understood to be much more complex thanks to twenty-first-century advances in genomic sequencing.
World map of the distribution of the A allele of the single nucleotide polymorphism rs17822931 in the ABCC11 gene. The proportion of A alleles in each population is represented by the white area in each circle. The history of the migration of humans can be traced back using the ABCC11 gene alleles.