Director, International Center for Genetic Disease, Harvard Medical School
Principal Investigator and Director, Bahrain National Genome Program at Harvard
Assistant Professor of Medicine, Harvard Medical School
Dr. Haghighi
is an Assistant Professor and clinician-scientist in the Department of
Medicine, Brigham and Women's Hospital, Harvard Medical School. He is an
American board-certified geneticist. He completed his graduate and clinical
training at University of Oxford, and Harvard Medical School. Dr. Haghighi is
the Founding Director of BWH International Center for Genetic Disease (iCGD),
and the PI and Director of the National Genome Project of Bahrain (Phase I:
~$10M) at Harvard.
For his research, he investigates
the genetic basis for human disease, with a focus on cardiovascular disease (e.g.,
cardiomyopathies, and congenital heart disease) and translating the research
discoveries into better diagnostics and improved patient care. He is the PI on two
NIH- and AHA-funded projects for investigating the genetics of unexplained
cardiomyopathies in adult and children. He is also the Director of GEnetics
NEtwork in the Middle East and Africa (GENE-ME), a large clinical research
network for genetic studies in those regions that aims to: (1) identify novel
disease-causing mutations and genotype-phenotype correlations, and (2) advance genomic
medicine in the Middle East and Africa through capacity building.
Dr. Haghighi has led many
international projects for advancing medical science in different countries to
improve the health and well-being of people. He is the Founding President of
Advancement Initiative for Medicine and Science (AIMS), a global foundation
that brings together academics and physicians and is dedicated to advancing
medical science and healthcare around the world.
He has received many awards for his
research and international projects, including the International Genetic
Disorders Prevention Award in 2018 (for outstanding contributions to and
scientific excellence in genetic research), the Global Health Pioneer
Award in 2019 (for significant contribution to improving the quality of
life through innovation and capacity building).
Director, International Center for Genetic Disease, Harvard Medical School
Principal Investigator and Director, Bahrain National Genome Program at Harvard
Assistant Professor of Medicine, Harvard Medical School
Dr. Haghighi
is an Assistant Professor and clinician-scientist in the Department of
Medicine, Brigham and Women's Hospital, Harvard Medical School. He is an
American board-certified geneticist. He completed his graduate and clinical
training at University of Oxford, and Harvard Medical School. Dr. Haghighi is
the Founding Director of BWH International Center for Genetic Disease (iCGD),
and the PI and Director of the National Genome Project of Bahrain (Phase I:
~$10M) at Harvard.
For his research, he investigates
the genetic basis for human disease, with a focus on cardiovascular disease (e.g.,
cardiomyopathies, and congenital heart disease) and translating the research
discoveries into better diagnostics and improved patient care. He is the PI on two
NIH- and AHA-funded projects for investigating the genetics of unexplained
cardiomyopathies in adult and children. He is also the Director of GEnetics
NEtwork in the Middle East and Africa (GENE-ME), a large clinical research
network for genetic studies in those regions that aims to: (1) identify novel
disease-causing mutations and genotype-phenotype correlations, and (2) advance genomic
medicine in the Middle East and Africa through capacity building.
Dr. Haghighi has led many
international projects for advancing medical science in different countries to
improve the health and well-being of people. He is the Founding President of
Advancement Initiative for Medicine and Science (AIMS), a global foundation
that brings together academics and physicians and is dedicated to advancing
medical science and healthcare around the world.
He has received many awards for his
research and international projects, including the International Genetic
Disorders Prevention Award in 2018 (for outstanding contributions to and
scientific excellence in genetic research), the Global Health Pioneer
Award in 2019 (for significant contribution to improving the quality of
life through innovation and capacity building).
Journal article
Nemaline myopathy (NM) is a heterogeneous genetic neuromuscular disorder characterized by rod bodies in muscle fibers resulting in multiple complications due to muscle weakness. NM patients and their families could benefit from genetic analysis for early diagnosis, carrier and prenatal testing; however, clinical classification of variants is subject to change as further information becomes available. Reclassification can significantly alter the clinical management of patients and their families....
Journal article
CONCLUSIONS: Through assessment of RNA splicing, we identified a new loss-of-function variant within a CHD gene in 78 probands, of whom 69 (1.5%; n=4472) did not have a previously established genetic explanation for CHD. Identification of splice-altering variants improves diagnostic classification and genetic diagnoses for CHD.
