Gene dosage is the number of copies of a gene and the amount of product they make. Disease can result from too little dosage (haploinsufficiency) or too much (a duplication or overexpression). The clearest CMT example is CMT1A, caused by a duplication of PMP22 that adds a third copy and overexpresses the protein; the reciprocal deletion causes the milder HNPP.
When Medicine Lost Its Compass
Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.
