Professor, Departments of Pediatrics, Pathology
Joint Appointment in Medicine
Director, Kennedy Krieger Institute Genetics Laboratory
A.B., Western Maryland College, 1959
Ph.D., University of Maryland, 1963
Main Interests:
Throughout my 36 years at The Kennedy Krieger Institute (KKI) and The Johns Hopkins University, my main teaching, research and clinical interests have been in the area of medical genetics with particular focus on cytogenetic abnormalities and inborn errors of metabolism associated with developmental abnormalities, subnormal mental capacity and/or degenerative disorders. Much of my work has been directed towards obtaining an understanding of the genetic and/or biochemical alterations associated with (and presumptively responsible for) handicapping conditions in children. In addition to my own interests, the KKI Genetics Laboratory provides a variety of specialized techniques required for genetic studies for the clinical staffs of the Johns Hopkins Hospital and the KKI. Currently, the Genetics Laboratory is utilizing cytogenetic techniques to identify small chromosomal abnormalities (microdeletions, translocations, duplications, etc.) that appear to be associated with specific types of physical and/or mental abnormalities. Once such chromosomal abnormalities are identified, they are analyzed and characterized by FISH analyses. A computer search of various public data bases is then carried out to identify candidate genes that might be disturbed by the chromosomal abnormalities in question. Once such genes are identified, molecular investigations are undertaken to determine if, in fact, there is evidence to support or rule out the involvement of the particular genes of interest.
Research Interests:
- Biochemical genetics
- Inborn errors of metabolism
- Clinical cytogenetics
- Molecular cytogenetics
- Link:
Kennedy Krieger Institute
Clinical Activities:
- Board Certification: American Board of Human Genetics in Clinical Cytogenetics and Clinical Biochemical Genetics American College of Medical Genetics
- Clinical Interests: Biochemical genetics and cytogenetics
- Clinic:
KKI Genetics Laboratories
Phone: (410) 502-9333
Educational Activities:
- Preceptor, Predoctoral Training Program in Human Genetics
- Preceptor, Medical Genetics Training Program
- Preceptor, Kennedy Krieger Institute Training Program in Developmental Disabilities.
Publications:
- Praphanphoj V, Goodman BK, Thomas GH, Raymond GV: Crytic subtelomeric translocations in the 22q13 deletion syndrome. J Med Genet 37: 58-61 , 2000. Abstract
- Goodman BK, Rutberg J, Li WW, Thomas GH, Geraghty MT: Hyperprolinemia in patients with deletion (22)(q11.2) syndrome. J Inherit Metab Dis 23:847-848, 2000.
- Lukong KE, Elsliger M-A, Chang Y, Richard C, Thomas GH, Carey W, Tylki-Szymanski A, Czartoryska B, Buchholz T, Criado G, Palmeri S, Pshezhetskyl AV: Characterization of the molecular defects of lysosomal sialidase in sialidosis patients suggests the structural organizstion of the lysosomal multienzyme complex. Human Mol Genet 12: 1075-1085, 2000. Abstract
- Cargile CB, McIntosh I, Clough M, Rutberg J, Yaghmai R, Goodman BK, Chen X-N, Korenberg J R, Thomas GH, Geraghty MT: Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12). Am J Med Genet 92: 328-335 , 2000. Abstract
- Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ, Geraghty MT: Molecular cytyogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epecanthus inversus syndrome (BPES). Genomics 65, 67-69 , 2000. Abstract
- Praphanphoj V, Sacksteder KA, Gould SJ, Thomas GH, Geraghty MT: Identification of the a-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene. Mol Genet Metab 72:336-342, 2001. Abstract
- Li S, Couzi RJ, Thomas GH, Friedman AD, Borowitz MJ: A novel variant three-way translocation of inversion 16 in a case of AML-M4eo following low dose methotrexate therapy. Cancer Genet Cytogenet 125 74-77, 2001. Abstract
- Hoover-Fong JE, Geraghty MT, Raymond GC, Thomas GH: Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser. J Inherit Metab Dis 24:415-416, 2001. Abstract
- Cargile CB, Goh DL-M, Goodman BK, Chen X-N, Korenberg JR, Semenza GL, Thomas GH: Molecular cytogenetic characterization of subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. Am J Med. Genet In Press, 2002.
Contact Information:
George H Thomas, Ph.D.
Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
Phone: (443) 923-2768
Fax: (443) 923-2775
E-Mail: thomasg@kennedykrieger.org
