Genetic Testing Timeline 2
HUNTINGTON DISEASE
1840 – Medical Journals note voluntary movements and mental problems that in families.
1872 – At 22-years old, physician George Huntington publishes a paper describing symptoms and hereditary pattern of HD, based on observations of his father’s patients.
1981 – Nancy Wexler begins field studies on Venezuelan families, as other establish linkage on chromosome 4.
1983 – HD marker discovered.
1986 – First predictive test for HD
1990 – Psychological and safety assessment for HD testing begins
1993 – Huntington Gene discovered at 4p16.3
CYSTIC FIBROSIS
1938 – Dorothy Anderson describes disease as defects in exocrine gland ducts.
1951 – “Salty Sweats” discovered in infants with heat prostration in New York City, confirming 17th century rhyme about children “salty to taste” who do not live long.
1986 – Several research groups indentify linked markers on chromosome 7
1989 – CFTR gene discovered at 7q31.2.
1997 – A 10-year study shows newborn screening for CF, early dietary intervention and antibiotics improve health; NIH recommends prenatal screening.
2001 – NIH, the American Collage of Obstetricians and Gynecologists, and the American College of Medical Genetics recommend screening before and during pregnancy.
SICKLE DISEASE
1904 – Medical inter Ernest Irons notices “pear-shaped and elongated forms” in blood from Clement Noel, a West Indian dental student in Chicago.
1910 – James Herrick, Irons’ attenting physician, takes credit for discovery
1958 – Vernoningram and coworkers use peptide fingerprinting to localize a mustation at the sith amino acid position of β globin
1972 – Congress passes National Sickle Cell Anemia Control Act establishing carrier screening; Air Force Academy excludes SCD carriers.
1981 – Air Forces Academy stops excluding SCD carriers
1982 – Prenatal diagnosis of SCD by direct gene test at 11p15.5
1985 – SCR carrier status dubbed risk factor for sudden death during intense physical training or high-altitude exposure
1987 – NIH consensus statement recommends newborn screening for SCD
TAY-SACHUS DISEASE
1881 – British ophthalmologist Warren Tay describes “cherry res spot”
1887 – US neurologist Barnard Sachs describes neurological symptoms
1970 – Carrier screening begins in Maryland, quickly becomes global
1983 – JosefEkstein starts Dor Yeshorim, an organization to screen for “Jewish genetic diseases,” after he loses four children to TSD
1887 – hexaA gene and mutations described at 15q23.q24.
2003 – Dor Yeshorim has screened 100,000+ young people for dozen Jewish genetic diseases since inception. Data stored anonymously, consulted for marriage decisions