Personal information

medical genetics, neurofibromatosis, clinical teratology, genetic epidemiology, molecular cytogenetics
Canada

Biography

Dr. Friedman is a Professor of Medical Genetics at UBC. He is a clinical geneticist who holds an MD degree from Tulane University and a PhD in Genetics from the University of Washington. Dr. Friedman’s research has led to seminal advances in improving the diagnosis of neurofibromatosis (NF) by enumerating the complex and variable spectrum of its clinical features, and in formulating recommendations for genetic and clinical diagnosis that have led to enhanced standards of patient care. His key research discoveries of novel molecular and cellular hallmarks that distinguish types of neurofibromas, benign tumours that typically arise in these patients, are providing new insights into the pathogenesis and progression of NF.
In the past decade, Dr. Friedman has been a pioneer in the development and application of cytogenetic and genomic tools to understand the genetic causes and clinical consequences, and improve diagnosis of intellectual disability syndromes.
Dr. Friedman is also a recognized expert in teratology, with his recent focus on determining the risk for birth defects arising from maternal anti‐depressant use during pregnancy which provides critical information that is essential for the development of regulatory guidelines for these medications.

Activities

Employment (10)

University of British Columbia: Vancouver, BC, CA

1989-07 to present | Professor (Medical Genetics)
Employment
Source: Self-asserted source
Jan M. Friedman

University of British Columbia: Vancouver, BC, CA

2010 to 2012 | Acting Associate Dean, Research (Faculty of Medicine)
Employment
Source: Self-asserted source
Jan M. Friedman

BC Children's Hospital Research Institute: Vancouver, BC, CA

2010 to 2012 | Acting Executive Director
Employment
Source: Self-asserted source
Jan M. Friedman

University of British Columbia: Vancouver, BC, CA

1992-02 to 1999-12 | Department Head (Medical Genetics)
Employment
Source: Self-asserted source
Jan M. Friedman

University of British Columbia: Vancouver, BC, CA

1989-07 to 1992-01 | Acting Head (Medical Genetics)
Employment
Source: Self-asserted source
Jan M. Friedman

University of British Columbia: Vancouver, BC, CA

1988-07 to 1989-08 | Acting Clinical Director (Medical Genetics)
Employment
Source: Self-asserted source
Jan M. Friedman

University of British Columbia: Vancouver, BC, CA

1986-07 to 1989-06 | Associate Professor (Medical Genetics)
Employment
Source: Self-asserted source
Jan M. Friedman

University of Texas Health Science Center at Houston: Houston, TX, US

1978 to 1986 | Assistant to Associate Professor and Chief, Div. of Clinical Genetics (Obstetrics & Gynecology and Pediatrics)
Employment
Source: Self-asserted source
Jan M. Friedman

Northwestern University: Evanston, IL, US

1976 to 1978 | Assistant Professor (Pediatrics)
Employment
Source: Self-asserted source
Jan M. Friedman

University of Washington: Seattle, WA, US

1976 to 1976 | Acting Instructor (Medicine)
Employment
Source: Self-asserted source
Jan M. Friedman

Education and qualifications (6)

University of Washington: Seattle, WA, US

1973 to 1977 | Ph.D. (Genetics)
Education
Source: Self-asserted source
Jan M. Friedman

University of Washington: Seattle, WA, US

1973 to 1976 | Fellowship (Medical Genetics)
Education
Source: Self-asserted source
Jan M. Friedman

Children's Memorial Research Center: Chicago, IL, US

1972 to 1973 | Residency (Pediatrics)
Education
Source: Self-asserted source
Jan M. Friedman

Children's Memorial Research Center: Chicago, IL, US

1971 to 1972 | Internship (Straight Pediatrics)
Education
Source: Self-asserted source
Jan M. Friedman

Tulane University: New Orleans, LA, US

1967 to 1971 | M.S. (Biochemistry)
Education
Source: Self-asserted source
Jan M. Friedman

Tulane University: New Orleans, LA, US

1965 to 1971 | M.D.
Education
Source: Self-asserted source
Jan M. Friedman

Professional activities (14)

University of British Columbia: Vancouver, British Columbia, CA

2021 | Distinguished University Scholar
Distinction
Source: Self-asserted source
Jan M. Friedman

Canadian College of Medical Geneticists: Kingston, Ontario, CA

2018 | F Clarke Fraser Award for Excellence in Mentorship and Teaching
Distinction
Source: Self-asserted source
Jan M. Friedman

American Society of Human Genetics: Bethesda, Maryland, US

2018 | Arno Motulsky–Barton Childs Award for Excellence in Human Genetics Education
Distinction
Source: Self-asserted source
Jan M. Friedman

Teratology Society: Reston, Virginia, US

2017 | Robert L. Brent Lecturer
Distinction
Source: Self-asserted source
Jan M. Friedman

BC Children's Hospital Research Institute: Vancouver, BC, CA

2017 | Geoffrey Hammond Lecturer
Distinction
Source: Self-asserted source
Jan M. Friedman

The University of British Columbia: Vancouver, BC, CA

2016 | Bill and Marilyn Webber Lifetime Achievement Award
Distinction
Source: Self-asserted source
Jan M. Friedman

Life Sciences British Columbia: Vancouver, BC, CA

2016 | Award for Clinical Research Excellence
Distinction
Source: Self-asserted source
Jan M. Friedman

Teratology Society: Reston, Virginia, US

2015 | Robert L. Brent Lecturer
Distinction
Source: Self-asserted source
Jan M. Friedman

Teratology Society: Reston, Virginia, US

2015 | Edward W. Carney Distinguished Service Award
Distinction
Source: Self-asserted source
Jan M. Friedman

University of British Columbia: Vancouver, British Columbia, CA

2012 | Distinguished Medical Research Lecturer in Clinical Science
Distinction
Source: Self-asserted source
Jan M. Friedman

Canadian Academy of Health Sciences: Ottawa, ON, CA

2012 | Fellowship
Distinction
Source: Self-asserted source
Jan M. Friedman

University of British Columbia: Vancouver, British Columbia, CA

2010 | Killam Teaching Award
Distinction
Source: Self-asserted source
Jan M. Friedman

University of Manitoba: Winnipeg, Manitoba, CA

2009 | Irene Uchida Lecturer
Distinction
Source: Self-asserted source
Jan M. Friedman

Canadian College of Medical Geneticists: Kingston, Ontario, CA

2005 | Founders Award
Distinction
Source: Self-asserted source
Jan M. Friedman

Funding (44)

Long-read sequencing and bioinformatics analysis to identify cryptic genetic mutations in patients with undiagnosed intellectual disability

2020-04-01 to 2023-03-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

8ecdaec78d2c87b4289570d86f57621d

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Improving whole genome sequencing as a clinical test for genetic causes of intellectual disability

2017-04-01 to 2018-03-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.e1e15f96ebb1d62e29024d325d50ca96

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

CAUSES - Clinical assessment of the utility of sequencing and evaluation as a service

2016-10 to 2019-09 | Grant
Genome British Columbia (Vancouver, BC, CA)
Source: Self-asserted source
Jan M. Friedman

Canadian International Data Sharing Initiative (Can-SHARE)

2015-07-01 to 2018-06-30 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

f919843a4c3d770b07643ca550db6f4d

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Canadian International Data Sharing Initiative (Can-SHARE)

2015-07-01 to 2018-06-30 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.a8b387965ab89cd97fe0d63bbe9b22d3

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

CAUSES Clinic (Clinical Assessment of the Utility of Sequencing and Evaluation as a Service)

2015 to 2018 | Grant
BC Children’s Hospital Foundation (Vancouver, BC, CA)
Source: Self-asserted source
Jan M. Friedman

Assessing the clinical utility of DECIDE: A novel e-counselling aid for clinical genome-wide sequencing

2014-04-01 to 2017-03-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

a465bbd9e742c00d952a43d6cedc4831

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Assessing the clinical utility of DECIDE: A novel e-counselling aid for clinical genome-wide sequencing

2014-04-01 to 2017-03-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.8afe48e16186d93dac08d7ef7f8764a1

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Expanding the number of treatable intellectual disabilities through an integrated "-omics" approach

2013-10-01 to 2018-09-30 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

76d8e819a8df90c0b0728d97a2f34c04

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Expanding the number of treatable intellectual disabilities through an integrated "-omics" approach

2013-10-01 to 2018-09-30 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.4ce6df47fe5ccb105a910ac523a16414

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Expanding the number of treatable intellectual disabilities through an integrated "-omics" approach

2013-10-01 to 2014-09-30 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

bbd456bccf3b9d91a57dd323941ad1d2

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Developing a Canadian framework for evaluation and decision-making for expensive drugs for rare diseases through innovation, value, and priority setting.

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Developing a Canadian framework for evaluation and decision-making for expensive drugs for rare diseases through innovation, value, and priority setting.

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Planning Meeting for Developing a Canadian framework for reimbursement decision-making for expensive drugs for rare diseases

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Planning Meeting for Developing a Canadian framework for reimbursement decision-making for expensive drugs for rare diseases

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

treatment of NF1 vasculopathy using cytokine inhibition

2011-06-01 to 2012-06-01 | Grant
Children's Tumor Foundation (New York, US)
GRANT_NUMBER:

grant.2011A-05-002

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Finding of Rare Disease Genes in Canada (FORGE CANADA)

2010-12-01 to 2012-05-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

10393ed8a1b380baa0bf2b39897c32d5

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Finding of Rare Disease Genes in Canada (FORGE CANADA)

2010-12-01 to 2012-05-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.54ee60ad502a96b227c5553820186776

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Targeting aurora kinase A in paediatric sarcomas

2010-10-01 to 2013-09-30 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

6b3a4f02a421c43d9101d726ca2bd92d

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Targeting aurora kinase A in paediatric sarcomas

2010-10-01 to 2013-09-30 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.6178a420946abd46bc421eba40e45596

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

A Public Discussion of Incidental Findings from Genomic Sequencing Technology.

2010-09-01 to 2011-08-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

00a97f9e5f4640fc74ede2462d7bfe48

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

A Public Discussion of Incidental Findings from Genomic Sequencing Technology.

2010-09-01 to 2011-08-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.33641b9781034f8fb449fb156672f055

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Massively parallel genomic sequencing for clinical identification of mutations that cause intellectual disability

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Massively parallel genomic sequencing for clinical identification of mutations that cause intellectual disability

2010-04-01 to 2013-03-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.ad266443e7a52643224897db40326a2f

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Genetics and Paediatric Health

2010-03-01 to 2011-02-28 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

9d31b31769a02346c6cca62ab7770c70

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Genetics and Paediatric Health

2010-03-01 to 2011-02-28 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.00255885e2c566f8e1fbfa74587ba74e

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

A Research and Knowledge Network on Genetic Health Services and Policy : Building on the APOGEE-Net and CanGeneTest experiences.

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

A Research and Knowledge Network on Genetic Health Services and Policy : Building on the APOGEE-Net and CanGeneTest experiences.

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

CIHR Team in Constitutional Genomic Copy Number Variation

2007-07-01 to 2007-12-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

a2e23f689a8fbc30adf42c992f6f2001

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

CIHR Team in Constitutional Genomic Copy Number Variation

2007-07-01 to 2007-12-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.bf152bdbf198e40657f6201f31a971ed

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Recurrent novel copy number variants in children with mental retardation

2007-04-01 to 2010-03-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

d65979bd56982aeebb45c94f467916e8

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Recurrent novel copy number variants in children with mental retardation

2007-04-01 to 2010-03-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.d7c034539ea9abd0821a7a5331d27af1

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Identifying human mutations that cause mental retardation

2005-05-01 to 2005-08-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

6a124b3f4035a090347e6257277d7b10

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Identifying human mutations that cause mental retardation

2005-05-01 to 2005-08-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.1cad5243b1f85695555729271daa6134

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Health care and health policy challenges in genetic laboratory services

2004-11-01 to 2007-10-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

f06b299311758e0f2fe74a8ad3aa3eab

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Health care and health policy challenges in genetic laboratory services

2004-11-01 to 2007-10-31 | Grant
Canadian Institutes of Health Research (Ottawa, CA)
GRANT_NUMBER:

grant.223f3b11dfc24bb2cdf0952a7219afc8

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Genomic tools for diagnosis and evaluation of mental retardation

Canadian Molecular Cytogenetics Platform

2004-03-02 to present | Grant
Canada Foundation for Innovation (Ottawa, CA)
GRANT_NUMBER:

grant.CFI327

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Analysis of Phenotypic Variability in Neurofibromatosis, Type 1 (NF1)

1995-10-01 to 1996-09-01 | Grant
Congressional Direct Medical Research Program (Fort Detrick, US)
GRANT_NUMBER:

grant.DAMD17-97-1-7347

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Registry of Cytogenetic Disorders and Phenylketonuria

1983-09-30 to 1987-09-29 | Grant
National Institute of Child Health and Human Development (Bethesda, US)
GRANT_NUMBER: N01HD032819-003
Source: Self-asserted source
Jan M. Friedman
grade
Preferred source (of 2)‎

Canadian International Data Sharing Initiative (CanSHARE)

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Canadian International Data Sharing Initiative (CanSHARE)

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Canadian Molecular Cytogenetics Platform

Grant
Canada Foundation for Innovation (Ottawa, CA)
GRANT_NUMBER:

CFI306

Source: Self-asserted source
Jan M. Friedman via DimensionsWizard

Finding of Rare Disease Genes in Canada (FORGE Canada)

Peer review (7 reviews for 6 publications/grants)

Review activity for European journal of human genetics (1)
Review activity for Genetics in medicine. (2)
Review activity for Genome medicine. (1)
Review activity for Human genetics. (1)
Review activity for Nature reviews. (1)
Review activity for npj genomic medicine. (1)