Human Genetics

Howard M. Saal, MD, FACMG

Title

Director, Clinical Genetics; Director, Cytogenetics Laboratory

Appointment

Professor of Pediatrics

Email

howard.saal@cchmc.org

Phone

513-636-4760

Fax

513-636-7297

Bio

Howard M. Saal, MD, a highly respected clinical geneticist and dysmorphologist, is the head of the section of Clinical Genetics in the Division of Human Genetics at Cincinnati Children's Hospital Medical Center. In addition to being board certified in clinical genetics and pediatrics, Dr. Saal is a board certified cytogeneticist.

Early in his career, he was the Director of the Cytogenetics Laboratory at the University of Connecticut Health Center, where he was also the associate director of the Craniofacial Disorders Team.

Dr. Saal is interested in the genetic causes of craniofacial disorders, especially cleft lip and cleft palate. He also has a significant interest in the natural history of genetic conditions, and has authored or co-authored numerous publications centering on the natural history and management of various genetic conditions, with special attention to neurofibromatosis, cleft lip, cleft palate, and Pierre Robin sequence.

After leaving Connecticut, Dr. Saal went to Children's National Medical Center in Washington, DC, where he was the Vice-Chairman of the Department of Medical Genetics and Co-Director of the Craniofacial Center. His clinical activities included establishment of the Neurofibromatosis Clinic, the Biochemical Genetics Clinic, and the multidisciplinary Skeletal Dysplasia Clinic with his colleagues at Children's National Medical Center. His interest in community activities led to his being named to the Health Professionals Advisory Committee and later to the Board of Directors of the National Capital Area March of Dimes.

Dr. Saal joined the staff at Cincinnati Children's in 1993 as the Head of Clinical Genetics. He has been an active participant in numerous clinical settings and has established the Hereditary Cancer Program, a unique local resource for families with familial and inherited cancers.

Dr. Saal is involved in community activities and has established urban genetics outreach clinics at three sites in Hamilton County. He has also been appointed as acting director of the Craniofacial Center at Cincinnati Children's, where he continues to cultivate his interests in the care of children with craniofacial disorders.

Credentials

MD: Wayne State University, Detroit, MI, 1975-1979.

Internship: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1979-1980.

Residency: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1980-1982.

Fellowship: University of Washington School of Medicine Division of Medical Genetics, Seattle, WA, 1982-1984.

Certification: American Board of Medical Genetics in Cytogenetics and Clinical Genetics, 1984; American Board of Pediatrics, 1985.

Awards and Honors

Best Doctors in America, 2008
Appointed Chair, Committee on Genetics, American Academy of Pediatrics, 2007
Awarded Tenure (Professor of Pediatrics), Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics – 2006
Elected to Executive Council of the American Cleft Palate-Craniofacial Association, 2005
Listed in Who's Who in North America, Who's Who in Healthcare
Listed in "America's Best Doctors", 2002, 2003, 2004, 2005, 2006
Promoted to Professor of Clinical Pediatrics, University of Cincinnati College of Medicine, 2000
Elected Chairman, Executive Committee of the Section on Genetics and Birth Defects of the American Academy of Pediatrics, for term 2000-2003
Re-elected to Section on Genetics and Birth Defects of the American Academy of Pediatrics for 1997-1999
1997, Re-elected to Section on Genetics and Birth Defects of the American Academy of Pediatrics for 1998, Named Director of the Clinical Genetics Sub-Committee of the International Consortium of Oral Cleft Genetics
1994, Elected to Section on Genetics and Birth Defects of the American Academy of Pediatrics
1992, Elected to the Board of Directors, National Capital Area March of Dimes
1990, Elected Secretary/Treasurer, Society of Craniofacial Genetics
1988, Awarded Tenure, Children's National Medical Center and George Washington University School of Medicine Department of Pediatrics
1982-1984, National Institutes of Health Training Grant
1975, James Z. Naurison Scholarship Award
1974, Teaching Associateship, University of Massachusetts, Amherst
1973, Phi Beta Kappa, University of Massachusetts, Amherst

Research

Clinical and research interests in genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation

Publications, Most Recent

Howard Saal's publications as listed by PubMed.

Friedman E, Kotsopoulos J, Lubinski J, Lynch HT, Paviz G, Neuhausen SL, Isaacs C, Weber B, Foulkes WD, Moller P, Rosen B, Kim-Sing C, Gershoni-Baruch R, Ainsworth P, Daly M, Tung N, Eisen A, Olopade OI, Karlan B, Saal HM, Garber JE, Rennert G, Gilchrist D, Eng C, Offit K, Osborne M, Sun P, Narod SA: Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers. Breast Cancer Res, 2006;8(2):R15.

Gronwald J, Tung N, Offit K, Gershoni R, Daly M, Kim-Sing C, Olsson H, Ainsworth P, Eisen A, Saal H, Friedman E, Olopade O, Osborne M, Weitzel J, Lynch H, Ghadirian P, Lubinski J, Sun P, Narod SA et al: Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer, 2006;118(9): 2281-2284.

Tinkle BT, Schorry EK, Franz DN, Crone KR, Saal HM: Epidemiology of hemimegalencephaly: a case series and review. Am J Med Genet, 2005;139(3): 204-211.

Kostopoulos J, Lubinski J, Lynch HT, Neuhausen SL, Ghardirian P, Isaacs C, Weber B, Kim-Sing C, Foulkes WD, Gershoni-Baruch R, Ainsworth P, Friedman E, Daly M, Garber JE, Karlan B, Olopade OI, Tung N, Saal HM, Eisen A, Osborne M, Olsson H, Gilchrish D, Sun P, Narod SA. Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Causes and Control, 2005;16(6):667-674.

Schorry EK, Oppenheimer SG, Saal HM: Valproate embryopathy: Clinical and cognitive profile in 5 siblings. Am J Med Genet, 2005;133A:202-206.

McGivern B, Everett J, Yager GG, Baumiller RC, Hafertepen A, Saal HM. Family communication about positive BRCA1 and BRCA2 results. Genet Med, 2004;6:503-509.

Rope AF, Hinton RB, Spicer RL, Blough-Pfau R, Saal, HM: Dilated ascending aorta in a child with ring chromosome 21 syndrome. Am J Med Genet, 2004;130A:191-195.