Who was the founder of fragile x syndrome?

There is no specific person who is credited as the founder of Fragile X syndrome. However, the discovery and understanding of Fragile X syndrome is attributed to several scientists and researchers. Here are some key individuals who contributed to the identification and study of Fragile X syndrome:

Dr. Herbert Lubs: In 1969, Dr. Lubs, an American geneticist, reported a characteristic chromosomal abnormality in a family with several members affected by an intellectual disability. This abnormality, which appeared as a fragile site on the X chromosome, was later associated with Fragile X syndrome.

Dr. David Sutherland: In the early 1980s, Dr. Sutherland, a Canadian clinical geneticist, conducted extensive studies on the fragile site identified by Dr. Lubs. He coined the term "Fragile X syndrome" and provided detailed descriptions of its clinical features, including intellectual disability, physical characteristics, and behavioral traits.

Dr. Benjamin A. Taylor and Dr. Randi J. Hagerman: In 1991, Dr. Taylor and Dr. Hagerman, American researchers, identified the genetic mutation responsible for Fragile X syndrome. They discovered that the fragile X site on the X chromosome contains a trinucleotide repeat expansion (CGG repeats) in the FMR1 gene. This expansion leads to the silencing of the FMR1 gene, resulting in the characteristic features of the syndrome.

It is important to note that the understanding and research of Fragile X syndrome has been a collaborative effort involving many other scientists, clinicians, and researchers over the years. These individuals have contributed to the identification, characterization, and development of treatments and therapies for Fragile X syndrome.