•  Neurofibromatosis

•  Clinical teratology

•  Genetic epidemiology

•  Molecular cytogenetics

I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused in three major areas:

• Application of advanced genomic technology to identifying the causes of mental retardation;
• Using genetic epidemiology - statistical analysis of large collections of clinical and genetic data and various other methods - to understand the disease processes in people with neurofibromatosis 1, a common genetic condition that leads to the development of benign and malignant tumours, cardiovascular disease and osteoporosis; and
• Development and dissemination of authoritative information on human teratogenic risks (risks to embryonic or fetal development) resulting from maternal treatment with various medications during pregnancy. 

• For 50 years, we have known that chromosomal abnormalities, which produce gain or loss of genomic material, are a major cause of mental retardation. Recent studies have shown that mental retardation in some children is caused by genomic imbalance that is much too small to detect by conventional chromosomal analysis. We are using newly developed technologies such as array genomic hybridization and high-throughput DNA sequencing to identify, characterize and understand the clinical consequences of the genomic alterations that cause at least 25% of all mental retardation.
  
  
• People with neurofibromatosis 1 often develop large numbers of benign tumours throughout their bodies, and some of these tumours may become malignant. Debilitating skeletal abnormalities and a characteristic vascular disorder, which may cause stroke, heart disease, or death in early adulthood, may also occur. We are conducting clinical, epidemiological and laboratory studies of these and other manifestations of neurofibromatosis to determine their frequency, natural history, and pathogenesis in affected patients.
  
  
• Prescription medications are not tested for safety in human pregnancy before they are approved for marketing, and the passive adverse event reporting schemes required after regulatory approval have proven to be inefficient means of identifying maternal drug treatments that can harm the embryo or fetus. As a consequence, the average time required to recognize that a newly marketed drug can harm the developing embryo or fetus is more than 7 years, and the fetal risk or safety of more than 90% of prescription drugs approved for clinical use since 1980 is unknown. We are doing studies of various maternal treatments during pregnancy and birth defect risk in the children using data from a large US study in collaboration with the Centers for Disease Control and Prevention in Atlanta, GA.

Tucker T, Marra M, Friedman JM. Massively parallel sequencing – the next big thing in genetic medicine. Am J Hum Genet (In press).

Friedman JM. Big risks in small groups: The difference between epidemiology and counseling. Birth Defects Res A Clin Mol Teratol (In press).

Yang Q, Bostick RM, Friedman JM, Flanders WD. Serum folate and cancer mortality among U.S. adults. Findings from the third National Health and Nutrition Examination Survey Linked Mortality File. Cancer Epidemiol Biomarkers Prev 18(5): 1439-47, 2009.

Regier DA, Friedman JM, Makela N, Ryan M, Marra CA. Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: Willingness to pay from families of affected children. Clin Genet 75(6):514-521, 2009.

Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L, Paulsen JS, Bottorff JL, Hayden MR, and the Canadian Respond-HD Collaborative Research Group. Perceptions of genetic discrimination among persons at-risk for Huntington disease: A cross-sectional survey. Brit Med J 338:B2175, 2009.

Tucker T, Friedman JM, Friedrich RE, Fünsterer C, Mautner VF.: Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. J Med Genet. 2009 Feb; 46(2): 81-5.

Friedman, JM.: High resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 2009. Jan; 29(1): 20-8.

Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM.: Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol. 2008 Aug;10(4):593-8.

Yang Q-H, Botto LD, Gallagher M, Friedman JM, Sanders CL, Koontz D, Nikolova S, Erickson JD, Steinberg K.: Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the Third National Health and Nutrition Examination Survey DNA Bank. Am J Clin Nutr. 2008 Jul; 88(1): 232-46.

Zahir FR, Baross A, Delaney AD, Eydoux P, Fernandes NF, Pugh T, Marra M, Friedman JM.: A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NFRXN1alpha. J Med Genet. 2008 Apr; 45(4):239-43.

Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willat L, Marra M, Friedman JM.  Novel deletions of 14q11.2 associated with mental retardation, cognitive impairment and similar minor anomalies in three children.  J Med Genet 44(9):556-61, 2007.

Alwan S, Reefhuis J, Rasmussen SA, Olney RS, Friedman JM, and the National Birth Defects Prevention Study.  Serotonin reuptake inhibitor use in pregnancy and the risk for birth defects.  N Engl J Med 356(26):2684-92, 2007.

Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong LL, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJM, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T,Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong S-L, Zahir F, Eydoux P, Marra MA. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79(3):500-13, 2006.

Yang Q, Botto LD, Erickson JD, Berry RJ, Sambell C, Johansen H, Friedman JM. Improvement in stroke mortality in Canada and United States, 1990-2002. Circulation 113:1335-1343, 2006.

Rasmussen SA, Wong L-Y, Correa A, Gambrell D, Friedman JM. Survival of infants with Down syndrome, metropolitan Atlanta, 1979-1998. J Pediatr 148:806-812, 2006.

Josef Warkany Lecturer, Teratology Society, 2009

Robert L. Brent Lecturer, Teratology Society, 2008

Bock Prize and Lectureship in Developmental Biology and Genetics, Alfred I. DuPont Hospital for Children of the Nemours Foundation, 2008

Nominated for the Charles C. Shepard Science Award for the most outstanding peer-reviewed research paper published by CDC scientists – 2002, 2006 (twice), 2007, 2008

Thomas Shepard Award, Organization of Teratogen Information Specialists, 2006

National Neurofibromatosis Foundation Center of Excellence Award - 2001 (first time awarded)

"The Effects of Drugs on the Fetus and Nursing Infant" (by J.M. Friedman and J. Polifka), listed as one of the best health science books of 1997 by Doody's Rating Service

UBC Dept. of Medical Genetics Clinical Teaching Award - 1995 (first time awarded)

Shelin Adam, MSc – Coordinator, BC Clinical Genomics Network
Sura Alwan – PhD student
Patricia Birch, MSc – Lab manager
Kimberly Jett – PhD student
Liza Mak – Administrative assistant
Lesley Phillips, PhD – Business Manager, BC Clinical Genomics Network
Tracy Tucker, PhD – Postdoctoral fellow
Farah Zahir – PhD student