Lihadh Al-Gazali

Biography

• Born born in Amarah, Iraq, and raised in Baghdad
• 1973 – MBChB, Baghdad Medical College
• 1976 – Moved to England to study paediatrics and clinical genetics with her husband and first child
• MSc in Human Genetics from Edinburgh University
• 1986-1990 Medical research in genetics, Leeds University. Assisted Robert Mueller in a study on genetic disorders in Bradford’s Pakistani population attributed to same-blood marriages.
• in a study on disorders common in Pakistanis attributed to same-blood marriages
• 1990 – Moved to Al-Ain as assistant professor at the Department of Paediatrics of United Arab Emirates University. Established genetics clinics and a laboratory, and began diagnosing genetic disorders, offering counselling, and giving lectures and workshops.
• 1995 – Set up the first registry for birth defects in the UAE
• 2003 – Executive committee member of the Centre for Arab Genomic Studies
• 2006 – Professor and Senior Consultant in Clinical Genetics and Pediatrics at the United Arab Emirates University
• 2007 – Hamdan Award for Honouring Individuals Working in the Field of Medicine & Health
• 2008 – L’Oreal – UNESCO Award for Women in Science – for contributions to the characterization of inherited disorders.
• 2014 – Takreem: Scientific and Technological Achievement
• 2015 – Abu Dhabi Award

Medical Eponyms

Al Gazali Syndrome (1994)

Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality.

In 1994, Al-Gazali et al reported 2 sibs of consanguineous Sudanese parents, with multiple congenital abnormalities including prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease, and early lethality. In 1999, Al-Gazali et al reported additional sibs, from a highly inbred Palestinian family, with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye, and early lethality. They suggested autosomal inheritance of the disorder in both families. [OMIM 609465]

Al-Gazali-Bakalinova syndrome (1998)

Al-Gazali-Bakalinova syndrome (AGBK) is caused by homozygous mutation in the KIF7 gene (611254) on chromosome 15q26. One such family has been reported. AGBK is characterized by multiple epiphyseal dysplasia, macrocephaly, and distinctive facial features including frontal bossing, hypertelorism, flat malar regions, low-set ears, and short neck. Other features include pectus excavatum, spindle-shaped fingers, clinodactyly, prominent joints, and genu valgum [OMIM 607131]

In 1998, Gazali and Bakalinova described 13 children in 2 sibships of a multiply consanguineous family. Four of the children were affected. The presenting features of four affected children included dysmorphic facies, genu valgum, swelling of the joints, frontal bossing, hypertelorism, flattening of the malar region, and low-set ears. The neck was short, and pectus excavatum, genu valgum, spindle-shaped fingers with interdigital soft-tissue webbing, and clinodactyly were present. Skeletal surveys showed dysplasia of the epiphyses of the long bones which was more severe in the lower limbs than the upper limbs. In 2 children, brain imaging was available and showed agenesis of the corpus callosum and frontotemporal brain atrophy.

Major Publications

• al-Gazali LI, Donnai D, Mueller RF. Hirschsprung’s disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?. J Med Genet. 1988;25(11):758-761.
• al-Gazali LI, Mueller RF, Caine A, et al. Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. J Med Genet. 1990;27(1):59-63.
• Revesz T, Fletcher S, al-Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?. J Med Genet. 1992;29(9):673-675.
• Al Gazali LI, al Talabani J, Mosawi A, Lytle W. Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?. Clin Dysmorphol. 1994;3(3):238-244. [Al Gazali Syndrome]
• al-Gazali LI, Bakalinova D. Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Clin Dysmorphol. 1998;7(3):177-184. [Al-Gazali-Bakalinova syndrome]
• al-Gazali LI, Bakir M, Sadaghatian MR, Nath R, Haas D. Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome. Clin Dysmorphol. 1999;8(2):87-92. [Al Gazali Syndrome]
• Baasanjav S, Al-Gazali L, Hashiguchi T, et al. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet. 2011;89(1):15-27.
• Akawi NA, Al-Gazali L, Ali BR. Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. Clin Genet. 2012;82(2):147-156
• Ben-Mahmoud A, Ben-Salem S, Al-Sorkhy M, John A, Ali BR, Al-Gazali L. A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. Clin Genet. 2018;93(6):1148-1158.

References

Biography

• Shetty P. Lihadh Al-Gazali: a leading clinical geneticist in the Middle East. Lancet. 2006;367(9515):979.
• Dr Lihadh Al-Gazali a pioneer of genetic study here in the UAE. 2016 AbuDhabi World
• Lihadh Al-Gazali. Google Scholar

Eponyms

• Al Gazali Syndrome; ALGAZ. #609465. OMIM
• Al-Gazali-Bakalinova syndrome; AGBK. #607131. OMIM