Judith Goslin Hall

Last updated
Judith Goslin Hall
OC FRSC FCAHS
Born (1939-07-03) July 3, 1939 (age 85) [1]
Boston, Massachusetts, US
NationalityUSA and Canada
Education Wellesley College, University of Washington, Johns Hopkins Hospital
Known forWork on the Sheldon-Hall syndrome and other abnormalities
Awards Order of Canada, Canadian Medical Hall of Fame
Scientific career
Fields Pediatrician, clinical geneticist and dysmorphologist
InstitutionsUniversity of Washington School of Medicine, University of British Columbia

Judith Goslin Hall OC FRSC FCAHS (born July 3, 1939) is a pediatrician, clinical geneticist and dysmorphologist who is a dual citizen of the United States and Canada.[ not verified in body ]

Contents

Early life and education

The daughter of a minister, Judith Goslin Hall was born on July 3, 1939, in Boston, Massachusetts. [1] She graduated from Garfield High School in Seattle and then attended Wellesley College in Wellesley, Mass. from which she earned her Bachelor of Arts degree in 1961.

She went to medical school in Seattle at the University of Washington, [1] from which she received an MD, from which she received an MD degree in 1966. [1] She was also awarded an MS degree in Genetics from the University of Washington. [1] She did her Pediatric training at Johns Hopkins Hospital, and did her fellowships in Medical Genetics and Pediatric Endocrinology.

Career

In 1972, she returned to the University of Washington School of Medicine and was given a joint appointment in the Departments of Pediatrics and Medicine as, successively, assistant, associate and full professor. She also gained additional depth of knowledge concerning congenital malformations by working in Seattle with the pioneer dysmorphologist, David W. Smith (1926–1981).

In 1981, Hall was named professor of medical genetics at the University of British Columbiadegree in 1966. [1] and the Director of the Genetics Services for British Columbia. From 1990 to 2000, she was also Professor and head of the Department of Paediatrics at the University of British Columbia and BC Children's Hospital. [1]

In 1988 she received a Killam Senior Fellowship for a sabbatical year at Oxford University, UK. During 2001, she was a Distinguished Fellow at Christ's College, Cambridge University, UK.

In 2005, she became an Emerita Professor at the University of British Columbia, engaged in Associations of Professors Emeriti (later the UBC Emeritus College), and served as the president in 2011–2012.

Research contributions

Hall's research has been far-ranging in the areas of congenital malformations including neural tube defects, [2] the genetics of short stature, [3] the mechanisms of disease such as mosaicism [4] and imprinting, [5] the natural history of genetic disorders, the genetics of connective tissue disorders such as arthrogryposis, [6] and monozygotic (identical) twins. [7] She has contributed to the knowledge of a number of syndromes. Her name is associated with the Hall type of pseudoachondroplasia (a severe form of dwarfism with short limbs), [8] Sheldon-Hall syndrome, and the Hall-Pallister syndrome (hamartoma in the hypothalamus tract, hypopituitarism, imperforate anus and polydactyly). [9] [10] Contributed to resource planning, career development, and continuing contributions of older academics. She described several forms of arthrogryposis and helped to define over 450 types.

Awards

Hall has received a number of honors, including alumni awards from Garfield High School, Wellesley College, the University of Washington School of Medicine, and the University of British Columbia. In 1998, she was made an Officer of the Order of Canada as "a leader and world authority in both genetics and pediatrics" and having "contributed to the development of resources and services essential to coping with genetic illnesses" [1] In 2011, she became a Fellow of the Royal Society of Canada. In 2015, Hall was inducted into the Canadian Medical Hall of Fame [11] and a Fellow of the Canadian Academy of Health Sciences.

Hall is quoted as saying, with regard to her recognition, that

To me, high achievement is not the number of publications but being a successful female in a world of professional men. And by that I mean caring more about peacemaking and nurturing the individual and the environment than success, winning, owning or directing. [1]

See also

Related Research Articles

<span class="mw-page-title-main">Polydactyly</span> Physical anomaly involving extra fingers or toes

Polydactyly is a birth defect that results in extra fingers or toes. The hands are more commonly involved than the feet. Extra fingers may be painful, affect self-esteem, or result in clumsiness.

<span class="mw-page-title-main">Arthrogryposis</span> Medical condition

Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints'.

<span class="mw-page-title-main">Imperforate anus</span> Birth defect of malformed rectum

An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies. The cause of ARMs is unknown; the genetic basis of these anomalies is very complex because of their anatomical variability. In 8% of patients, genetic factors are clearly associated with ARMs. Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified.

<span class="mw-page-title-main">VACTERL association</span> Medical condition

The VACTERL association refers to a recognized group of birth defects which tend to co-occur. This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.

Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium, transverse defects of the limbs, and mottling of the skin.

<span class="mw-page-title-main">Pallister–Hall syndrome</span> Medical condition

Pallister–Hall syndrome (PHS) is a rare genetic disorder that affects various body systems. The main features are a non-cancerous mass on the hypothalamus and extra digits (polydactylism). The prevalence of Pallister-Hall Syndrome is unknown; about 100 cases have been reported in publication.

<span class="mw-page-title-main">Freeman–Sheldon syndrome</span> Rare congenital disorder

Freeman–Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis (DA). It was originally described by Ernest Arthur Freeman and Joseph Harold Sheldon in 1938.

<span class="mw-page-title-main">Cornelia de Lange syndrome</span> Medical condition

Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. The typical features of CdLS include thick or long eyebrows, a small nose, small stature, developmental delay, long or smooth philtrum, thin upper lip and downturned mouth.

<span class="mw-page-title-main">CAMFAK syndrome</span> Medical condition

CAMFAK syndrome is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome. The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis. The disease may occur with or without failure to thrive and arthrogryposis.

<span class="mw-page-title-main">Acrocallosal syndrome</span> Medical condition

Acrocallosal syndrome is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome.

<span class="mw-page-title-main">Johanson–Blizzard syndrome</span> Medical condition

Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with intellectual disability, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia.

<span class="mw-page-title-main">Lethal congenital contracture syndrome</span> Medical condition

Lethal congenital contracture syndrome 1 (LCCS1), also called multiple contracture syndrome, Finnish type, is an autosomal recessive genetic disorder characterized by total immobility of a fetus, detectable at around the 13th week of pregnancy. LCCS1 invariably leads to prenatal death before the 32nd gestational week. LCCS1 is one of 40 Finnish heritage diseases. It was first described in 1985 and since then, approximately 70 cases have been diagnosed.

<span class="mw-page-title-main">Fryns syndrome</span> Medical condition

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.

<span class="mw-page-title-main">Macrocephaly-capillary malformation</span> Medical condition

Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities. Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation, body asymmetry, polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.

<span class="mw-page-title-main">Microphthalmia–dermal aplasia–sclerocornea syndrome</span> Medical condition

Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions. MLS is a rare X-linked dominant male-lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females, and in utero lethality for affected males. It can be associated with HCCS, mutations in it cause microphthalmia with Linear Skin Defects Syndrome.

Perlman syndrome (PS), also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, is a rare overgrowth syndrome caused by autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial features, and increased risk for Wilms' tumor. The syndrome is associated with high neonatal mortality.

<span class="mw-page-title-main">Munis Dundar</span>

Munis Dundar is a professor of Medical Genetics and Head of the Medical Genetics Department at Erciyes University, Kayseri, Turkey. He is founder and head of the Medical Genetics Department at Erciyes University and has carried out various administrative tasks since 1996. He defined four genetic syndromes in the medical literature: the “Dundar Syndrome”, “Dundar Acropectoral Syndrome”, “Scoliosis, Blindness and Arachnodactyly Syndrome” and “Multiple Congenital Abnormalities and Mental Retardation Syndrome”. He has taken part as project coordinator and assistant investigator in many research projects and has prepared articles published in international journals since 1995. He is the president of EBTNA and representative from Turkey. He is also the editor-in-chief of The EuroBiotech Journal.

<span class="mw-page-title-main">John M. Opitz</span> German-American geneticist (1935–2023)

John M. Opitz was a German-American medical geneticist and professor at the University of Utah School of Medicine. He is best known for rediscovering the concept of the developmental field in humans and for his detection and delineation of many genetic syndromes, several now known as the "Opitz syndromes" including Smith–Lemli–Opitz syndrome (SLOS), Opitz–Kaveggia syndrome (FGS1), Opitz G/BBB syndrome, Bohring–Opitz syndrome, and other autosomal and X-linked conditions. He is founder of the Wisconsin Clinical Genetics Center, the American Journal of Medical Genetics, and was a cofounder of the American College and American Board of Medical Genetics.

Facial femoral syndrome is a rare congenital disorder. It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features.

ZC4H2 is a protein-coding gene located on the X-chromosome. This gene encodes a protein which is a member of the so-called zinc finger domain-containing protein family. There is currently very limited understanding about the ZC4H2 gene and its protein function.

References

  1. 1 2 3 4 5 6 7 8 9 "science.ca : Judith G. Hall". science.ca. Retrieved 27 January 2017.
  2. ↑ Van Allen, M. I.; Kalousek, D. K.; Chernoff, G. F.; Juriloff, D.; Harris, M.; McGillivray, B. C.; Yong, S. L.; Langlois, S.; Macleod, P. M.; Chitayat, D.; Friedman, J. M.; Wilson, R. D.; McFadden, D.; Pantzar, J.; Ritchie, S.; Hall, J. G. (1993). "Evidence for multi-site closure of the neural tube in humans". Am. J. Med. Genet. 47 (5): 723–743. doi:10.1002/ajmg.1320470528. PMID   8267004.
  3. ↑ Horton, W.; Hall, J. G.; Hecht, J. T. (2007). "Achondroplasia". The Lancet. 370 (9582): 162–172. doi:10.1016/S0140-6736(07)61090-3. PMID   17630040.
  4. ↑ Hall, J. J. (1988). "Review and hypotheses: somatic mosaicism: observations related to clinical genetics". Am. J. Hum. Genet. 43 (4): 353–363. PMC   1715487 . PMID   3052049.
  5. ↑ Hall 1, J. J. (1990). "Genomic imprinting: review and relevance to human diseases". Am. J. Hum. Genet. 46(5):857–873. (5): 857–873. PMC   1683580 . PMID   2187341.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  6. ↑ Dahan-Oliel1, N.; Bedard, T.; Darsaklis, V. B.; Hall, J. J.; van Bosse6, H. J. P.; Hamdy, R. C. (2018). "Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry". BMJ Open. 8 (6): e021377. doi:10.1136/bmjopen-2017-021377. PMC   6042585 . PMID   29961027.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  7. ↑ Hall, J. J. (1996). "Twinning: mechanisms and genetic implications". Curr. Opin. Genet. Dev. 6 (3): 343–347. doi:10.1016/s0959-437x(96)80012-8. PMID   8791516.
  8. ↑ Hall, J. J.; Dorst, J. P.; Rotta, J.; McKusick, V. A.; Opitz, J. M.; Reynolds, J. F. (1987). "Gonadal mosaicism in pseudoachondroplasia". Am. J. Med. Genet. 28 (1pages = 143-151): 143–151. doi:10.1002/ajmg.1320280121. PMID   3314506.
  9. ↑ Hall, J. G.; Pallister, P. D.; Clarren, S. K.; Beckwith, J. B.; Wiglesworth, F. W.; Fraser, F. C.; Cho, S.; Benke, P. J.; Reed, S. D.; Optiz, J.M. (1980). "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations". Am. J. Med. Genet. 7 (1): 47–74. doi:10.1002/ajmg.1320070110. PMID   7211952.
  10. ↑ "Whonamedit - dictionary of medical eponyms". whonamedit.com. Retrieved 27 January 2017.
  11. ↑ "Dr. Judith G. Hall, OC – Canadian Medical Hall of Fame". cdnmedhall.org. Archived from the original on 21 April 2017. Retrieved 27 January 2017.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.