by Dr. Gabriel M. Freitas | 09/09/2025 | Genetic and Hereditary Diseases
Duchenne Muscular Dystrophy (DMD) is a rare and progressive genetic disorder that primarily affects boys. It is characterized by progressive muscle weakness caused by the absence or insufficient production of a protein called dystrophin, which is essential for the...
by Dr. Gabriel M. Freitas | 08/16/2025 | Genetic and Hereditary Diseases
Gaucher disease is a rare genetic condition that primarily affects the liver, spleen, and bone marrow, but it can also impact several other organs in the body. Although not widely known, it is the most common lysosomal storage disorder, caused by a mutation in a...
by Dr. Gabriel M. Freitas | 07/16/2025 | Genetic and Hereditary Diseases, Respiratory Diseases
Cystic fibrosis (CF), also known as mucoviscidosis, is a rare and chronic genetic disease that primarily affects the lungs and digestive system. Although it poses significant challenges, advances in medicine have transformed the outlook for many individuals, enabling...
by Dr. Gabriel M. Freitas | 06/28/2025 | Genetic and Hereditary Diseases, Special Date
Today, June 28, marks World Phenylketonuria Day, an important occasion to raise awareness about this rare, genetic, and silent disease that can cause serious neurological damage if not diagnosed and treated early. Although little known by the general public,...
by Dr. Gabriel M. Freitas | 06/16/2025 | Genetic and Hereditary Diseases
Klinefelter Syndrome is a genetic condition that exclusively affects males. It is caused by the presence of an extra X chromosome in the cells — while the typical male karyotype is 46,XY, in Klinefelter Syndrome, it is 47,XXY. This means that the individual has two X...