Ethylin Wang Jabs

Last updated
Ethylin Wang Jabs
Citizenship American
Alma mater Johns Hopkins University
Scientific career
Fields medical genetics, craniofacial biology
Institutions Icahn School of Medicine at Mount Sinai

Ethylin Wang Jabs is an American physician and scientist with expertise in medical genetics, pediatrics, and craniofacial biology. She is currently vice chair of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai Medical Center. Jabs is also a professor in the departments of developmental and regenerative biology and pediatrics at Mount Sinai and an adjunct professor in pediatrics, medicine, and surgery at the Johns Hopkins School of Medicine. Her research and clinical practice have focused on development genetics and patients with birth defects.

Contents

Education

Jabs graduated in 1974 as a member of the first undergraduate class that admitted women at Johns Hopkins University. She received her medical degree and pediatric and medical genetics training at Johns Hopkins Hospital and Johns Hopkins Children's Center.[ citation needed ]

Research highlights

Jabs joined the Johns Hopkins University faculty in 1984 and became a professor of pediatric genetics and Director of the Center for Craniofacial Development and Disorders. [1]

Her laboratory was responsible for the identification of the first human mutation in a homeobox-containing gene, an important regulatory gene in development. [2] Jabs went on to identify mutations in key genes responsible for craniofacial disorders, especially craniosynostosis. [3] [4] [5] [6] She discovered that similar mutations in the same gene, fibroblast growth factor receptor 2 or FGFR2, cause both Jackson–Weiss syndrome and Crouzon syndrome. [3]

For some of these conditions, Jabs demonstrated the association of advanced paternal age at conception. She has studied the increased frequency of spontaneous mutations arising in sperm with aging. [7] [8] Jabs started a database of clinical and genetic data for people with craniofacial disorders including those with Möbius syndrome, a rare neurological disorder, to help identify the genetic root of the condition. [9] Jabs joined the Mount Sinai medical school in 2007. [10] She conducts collaborative genetic research on rare disorders and animal model systems to investigate the molecular mechanism and potential therapeutic strategies for these conditions. [11] She is an active clinician seeing patients with birth defects. [12]

During her time at Johns Hopkins, she directed an international training program in collaboration with Peking Union Medical College and Peking University. At Mount Sinai, she runs a training program for predoctoral students on the integration of bioinformatics, statistics, and developmental biology. [13]

Jabs is an advisor to several parent support groups, including Smile Train. [14] She has authored more than 250 peer-reviewed publications, chapters, and reviews. [15] [16]

Related Research Articles

<span class="mw-page-title-main">Scaphocephaly</span> Cephalic disorder involving premature fusion of the sagittal suture

Scaphocephaly, or sagittal craniosynostosis, is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull resulting in a characteristic long, narrow head. The skull base is typically spared.

<span class="mw-page-title-main">Trigonocephaly</span> Congenital condition of premature fusion of the metopic suture

Trigonocephaly is a congenital condition of premature fusion of the metopic suture, leading to a triangular forehead. The merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur syndromic, involving other abnormalities, or isolated. The term is from the Greek trigonon, "triangle", and kephale, "head".

<span class="mw-page-title-main">Treacher Collins syndrome</span> Human genetic disorder

Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence.

<span class="mw-page-title-main">Crouzon syndrome</span> Genetic disorder of the skull and face

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.

<span class="mw-page-title-main">Apert syndrome</span> Congenital disorder of the skull and digits

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.

<span class="mw-page-title-main">Craniosynostosis</span> Premature fusion of bones in the skull

Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ.

Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.

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

Jackson–Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. This genetic disorder can also sometimes cause intellectual disability and crossed eyes. It was characterized in 1976.

<span class="mw-page-title-main">Pfeiffer syndrome</span> Genetic disorder of the skull

Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.

<span class="mw-page-title-main">Acrocephalosyndactyly</span> Group of diseases

Acrocephalosyndactyly is a group of autosomal dominant congenital disorders characterized by craniofacial (craniosynostosis) and hand and foot (syndactyly) abnormalities. When polydactyly is present, the classification is acrocephalopolysyndactyly. Acrocephalosyndactyly is mainly diagnosed postnatally, although prenatal diagnosis is possible if the mutation is known to be within the family genome. Treatment often involves surgery in early childhood to correct for craniosynostosis and syndactyly.

<span class="mw-page-title-main">Twist-related protein 1</span> Transcription factor protein

Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.

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

Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by Maximilian Muenke, the syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis.

<span class="mw-page-title-main">Fibroblast growth factor receptor 2</span> Protein-coding gene in the species Homo sapiens

Fibroblast growth factor receptor 2 (FGFR2) also known as CD332 is a protein that in humans is encoded by the FGFR2 gene residing on chromosome 10. FGFR2 is a receptor for fibroblast growth factor.

<span class="mw-page-title-main">Fibroblast growth factor receptor 3</span> Gene involved in the most common form of dwarfism

Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene. FGFR3 has also been designated as CD333. The gene, which is located on chromosome 4, location p16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys.

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

Antley–Bixler syndrome is a rare, severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.

<span class="mw-page-title-main">Robert J. Desnick</span> American geneticist

Robert J. Desnick is an American human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, pharmacogenetics, gene therapy, personalized medicine, and the treatment of genetic diseases. His translational research has led to the development the enzyme replacement therapy (ERT) and the chaperone therapy for Fabry disease, ERT for Niemann–Pick disease type B, and the RNA Interference Therapy for the Acute Hepatic Porphyrias.

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

Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.

Peter James Taub, MD, FACS, FAAP, is an American Professor of Surgery, Pediatrics, Dentistry, Neurosurgery, and Medical Education at the Icahn School of Medicine at Mount Sinai as well as Attending Plastic and Reconstructive Surgeon at the Mount Sinai Medical Center and Elmhurst Hospital Center, all in New York City. He is a diplomate of both the American Board of Surgery and the American Board of Plastic Surgery.

<span class="mw-page-title-main">Severe achondroplasia with developmental delay and acanthosis nigricans</span> Medical condition

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. Those affected by the disorder are severely short in height and commonly possess shorter arms and legs. In addition, the bones of the legs are often bowed and the affected have smaller chests with shorter rib bones, along with curved collarbones. Other symptoms of the disorder include broad fingers and extra folds of skin on the arms and legs. Developmentally, many individuals who suffer from the disorder show a higher level in delays and disability. Seizures are also common due to structural abnormalities of the brain. Those affected may also suffer with apnea, the slowing or loss of breath for short periods of time.

Clair A. Francomano is an American medical geneticist and academic specializing in Ehlers–Danlos syndromes. She is Professor of Medical and Molecular Genetics at Indiana University.

References

  1. ↑ "Jabs, Ethylin Wang, M.D". Hopkinsmedicine.org. Archived from the original on 2013-12-10. Retrieved 2013-12-03.
  2. ↑ Jabs, Ethylin Wang; Müller, Ulrich; Li, Xiang; Ma, Liang; Luo, Wen; Haworth, Ian S; Klisak, Ivana; Sparkes, Robert; Warman, Matthew L; Mulliken, John B; Snead, Malcolm L; Maxson, Rob (1993). "A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis". Cell. 75 (3): 443–50. doi:10.1016/0092-8674(93)90379-5. PMID   8106171. S2CID   13650758.
  3. 1 2 Jabs, Ethylin Wang; Li, Xiang; Scott, Alan F; Meyers, Gregory; Chen, Wendy; Eccles, Michael; Mao, Jen-i; Charnas, Lawrence R; Jackson, Charles E; Jaye, Michael (1994). "Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2". Nature Genetics. 8 (3): 275–9. doi:10.1038/ng1194-275. PMID   7874170. S2CID   37549497.
  4. ↑ Howard, Timothy D; Paznekas, William A; Green, Eric D; Chiang, Lydia C; Ma, Nancy; Luna, Rosa Isela Ortiz De; Delgado, Costanza Garcia; Gonzalez-Ramos, Mario; Kline, Antoine D; Jabs, Ethylin Wang (1997). "Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome". Nature Genetics. 15 (1): 36–41. doi:10.1038/ng0197-36. PMID   8988166. S2CID   35360537.
  5. ↑ Justice, Cristina M; Yagnik, Garima; Kim, Yoonhee; Peter, Inga; Jabs, Ethylin Wang; Erazo, Monica; Ye, Xiaoqian; Ainehsazan, Edmond; Shi, Lisong; Cunningham, Michael L; Kimonis, Virginia; Roscioli, Tony; Wall, Steven A; Wilkie, Andrew O M; Stoler, Joan; Richtsmeier, Joan T; Heuzé, Yann; Sanchez-Lara, Pedro A; Buckley, Michael F; Druschel, Charlotte M; Mills, James L; Caggana, Michele; Romitti, Paul A; Kay, Denise M; Senders, Craig; Taub, Peter J; Klein, Ophir D; Boggan, James; Zwienenberg-Lee, Marike; et al. (2012). "A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9". Nature Genetics. 44 (12): 1360–4. doi:10.1038/ng.2463. PMC   3736322 . PMID   23160099.
  6. ↑ GEORGE JOHNSONPublished: February 13, 1996 (1996-02-13). "Same Gene May Shape Face, Heart and Hands - New York Times". The New York Times . Retrieved 2013-12-03.
  7. ↑ Glaser, R. L (2004). "Dear Old Dad". Science of Aging Knowledge Environment. 2004 (3): 1re–1. doi:10.1126/sageke.2004.3.re1. PMID   14736914.
  8. ↑ Glaser, Rivka L; Broman, Karl W; Schulman, Rebecca L; Eskenazi, Brenda; Wyrobek, Andrew J; Jabs, Ethylin Wang (2003). "The Paternal-Age Effect in Apert Syndrome is Due, in Part, to the Increased Frequency of Mutations in Sperm". The American Journal of Human Genetics. 73 (4): 939–47. doi:10.1086/378419. PMC   1180614 . PMID   12900791.
  9. ↑ Miller, G (2007). "NEUROLOGICAL DISORDERS: The Mystery of the Missing Smile". Science. 316 (5826): 826–7. doi:10.1126/science.316.5826.826. PMID   17495152. S2CID   142880445.
  10. ↑ "Ethylin Wang Jabs - Icahn School of Medicine at Mount Sinai". Icahn.mssm.edu. 2007-11-01. Archived from the original on 2013-12-13. Retrieved 2013-12-03.
  11. ↑ Wang, Yingli; Zhou, Xueyan; Oberoi, Kurun; Phelps, Robert; Couwenhoven, Ross; Sun, Miao; Rezza, Amélie; Holmes, Greg; Percival, Christopher J; Friedenthal, Jenna; Krejci, Pavel; Richtsmeier, Joan T; Huso, David L; Rendl, Michael; Jabs, Ethylin Wang (2012). "P38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice". Journal of Clinical Investigation. 122 (6): 2153–64. doi:10.1172/JCI62644. PMC   3366414 . PMID   22585574.
  12. ↑ "Ethylin Jabs | Mount Sinai - New York".
  13. ↑ "NIH Training Grant Systems Biology | Icahn School of Medicine".
  14. ↑ "Dome: A publication for the Johns Hopkins Medicine family". Hopkinsmedicine.org. Archived from the original on 2010-09-06. Retrieved 2013-12-03.
  15. ↑ Search Results for author Jabs E on PubMed .
  16. ↑ https://www.researchgate.net/profile/Ethylin_Jabs/contributions%5B%5D
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