Medical Science

Breakthroughs in DNA research have led to the development of new technology and medical treatments, in some cases where only limited or no treatment previously existed. A lot of good has come out of this relatively new field of scientific…
Read more

Huntington’s disease (HD) is a central nervous system disorder marked by a progressive loss of motor control; involuntary movements of the upper body (sometimes called chorea because these tics vaguely resembles dancing); followed by autonomic dysfunction, dementia, and eventually death….
Read more

One of the coolest parts of living in the age we do is that, with everything from science and technology to social and spiritual concerns advancing at the speed of light, we get to experience the actualization of concepts that…
Read more

Dagfinn Aarskog is a Norwegian pediatrician and a geneticist who described a syndrome characterized by short stature and abnormalities related to facial, genital and skeletal systems. The syndrome is considered to be a rare genetic disease and had been found…
Read more

The name “Elephant Man” was used by Englishman Joseph Carey Merrick when, in the late 1800s, he was exhibited as a human curiosity due to his severe physical deformities. His condition began to develop early in his age, starting off…
Read more

When an egg meets a sperm (or gametes), a delicate symphony of genetic information is fused. Half of that genetic information is given by the maternal parent and the other half is given by the paternal half. The gametes must…
Read more

Joseph Merrick (1862-1890), known throughout England as the Elephant Man, may have had the most severe case of neurofibromatosis (NF) documented in the annals of medical literature. In the 19th century, nothing was known about the genetic basis of NF,…
Read more

Deafness and hearing loss have many different causes including infection, traumatic injury and genetic makeup. With increased knowledge of the human genome, it is becoming possible to identify specific genes involved in such conditions. One of the genetic causes is…
Read more

Proteus syndrome is a very rare genetic disorder that is characterized by the over abundance of growth in tissues and bones. There is an estimated 100 individuals with Proteus syndrome out of the entire population of the world and it…
Read more

Aagenaes syndrome, which is also called cholestasis-lymphedema syndrome (or CLS), is listed as a “rare genetic disease” by the Office of Rare Diseases (ORD) from the National Institutes of Health (NIH). A rare disease is often deemed as such if…
Read more