1. Postgraduate Education

Professor Hossein Najmabadi, MT (ASCP), PhD, was awardeda BSdegree in Biology in 1983 at the University of North Texas, Denton in Texas, USA and received a BSdegree in Medical Technology the year after from the same university. In 1989, he was awarded a PhDdegree in Molecular Biology, Double Minor in Human Genetics and Biochemistry at the same university.He completed two postdoctoral fellowship training periods at UCLA Medical Center during 1990–1995, and served there for about two years as Assistant Professor. He was appointed Assisting Professor of Medicine for two years at Charles Drew University of Medicine & Science –UCLA, Los Angeles. He earned his Faculty position in 1996 at the University of Social Welfare & Rehabilitation Sciences (USWRS), Tehran as Assistant Professor, and was appointed as Head and Director of the only approved Genetics Research Center in Tehran, Iran. In 2005, he attained Associate Professorship and in 2006 was awardeda Professor Degree at USWRS.

2. Scientific Activities

2.1. Educational and Research Activities

Professor Najmabadi has played an active role in the development of the University of Social Welfare & Rehabilitation Sciences and helped to make this center the leading or reference center for genetic diagnosis of intellectual disability, and hearing loss.During his time there, he has been awarded prestigious scientific national and international degrees. In 2001, he was granted the concession of National Reference Laboratory for Prenatal Diagnosis in Thalassemia.In 2017, he established the first National Genome Center as well as developed a database usinggenomic data from various healthy Iranian ethnicgroup. It is called Iranome (www.iranome.ir). These two Nationalproject toke three years of dedicated work.

He has led several projects on genetic diagnosis of hereditary diseases such as alpha- and beta-thalassemia, Spinal Muscular Atrophy (SMA), Duchenne and Becker Muscular Dystrophies (DMD/BMD), Familial Mediterranean fever (FMF), hearing loss, and intellectual disabilities, resulting in papers published in international scientific journals with a high citation index including Nature, Science, PNAS, AJHG, AJMG, EJMG, including his published article in Nature (2011), in which he reported the identification of 50 novel genes in autosomal recessive intellectual disabilities (ARID)followed by identification of additional 82 genes in ARID in Mol. Psychiatry (2018).

He has published several books for specialists and genetic students on subjects including Fragile X syndrome, Duchenne and Becker muscular dystrophies, and spinal muscular atrophy.

By applying specialist knowledge, research, perseverance, and responsibility, he has become a successful individual, andan internationallyrenownedscientistin the genetic field publishing several landmarkarticles and leading various national research projects.

He is a member of several national and international scientific committees, including the American Society of Human Genetics (ASHG) since 1996,a regular member of the European Society of Human Genetics (ESHG) since 2006, a member of the Association for Molecular Pathology (AMP) since 2010, and for over 30 years,a member ofthe American Society of Clinical Pathology (ASCP).

With the aim of transferring knowledge to future generations, Professor Najmabadi has continued his scientific activities by supervising M.Sc. and Ph.D. students and believes that the younger generation are a great assets for thecountry, therefore, continues the training of students with assurance and sympathy. Undoubtedly, he is well qualifiedto fulfill the aspirations of researchers by granting them access to leading edge technology. One of his educational achievements was training up twohundred Ph.D. and M.Sc. students at the University of Social Welfare & Rehabilitation Sciences and Genetic Research Center,and a substantial number of students have completed their Ph.D. and M.Sc. degrees under his supervision at different universities including Tehran University of Medical Sciences, TarbiatModares University, ShahidBeheshty University of Medical Sciences, Islamic Azad University, and Khatam University.

2.2. Honors and Awards

Professor Najmabadi received the Elite Foundation awardfrom the Iranian president, for Best Scientist 2011 from Ceremony of the AllamehTabatabaei Festival, and is listed in the Web of Science as being in the top 1% of the world’s most influential scientific researchers. In 2016, he was awarded the Razi prize as the first ranked clinical scientist in Iran.

3. Professional Activities

Professor Najmabadi is a leader in establishing developmental molecular techniques for the detection of genetic causes of intellectual disability, and hereditary hearing loss in the country and the results of various research projects in this field have been published as scientific articles in peer reviewed international and national journals which are available for all scientists working in this field.

In 1996, he established the genetic analysis of common hereditary diseases in Iran including beta-thalassemia, Spinal Muscular Atrophy (SMA), Duchenne and Becker Muscular Dystrophies (DMD/BMD), Fragile X syndrome (FRX), and infertility in men. Considering the importance of genetic diagnosis of these disorders, the high rate of consanguinity, and families with multiple affected individuals, he established prenatal diagnosis (PND) for common genetic diseases such as beta-thalassemia, SMA, DMD/BMD, and FRX in Iran.

As a result of his scientific efforts, the Iranian Human Gene Bank was established in 2003, and information on ithas been published in the Journal of Human Mutation.

Professor Najmabadi also establishednew molecular techniques for carrier detection and mutation identification in beta-thalassemia, which provided a rapid method for screening thalassemic couples, resulting in a reduction in birth rate of infants affected with this disorder.

Based on his achievements, he updated some techniques such as multiplex ligation-dependent probe amplification (MLPA) andquantitative fluorescence-polymerase chain reaction (QF-PCR) for the diagnosis of genetic abnormalities in several single gene and chromosomal disorders, which provided a rapid method for screening families who had children affected with chromosomal syndromes and microdeletions.

He has played an active role in the development of sequencing methods for detection of single gene disorders including Phenylketonuria (PKU), Familial Mediterranean fever (FMF), cystic fibrosis (CF), Congenital adrenal hyperplasia (CAH), and Breast cancer (BRCA1 and BRCA2).

As a consequence ofhis research since 2004, Professor Najmabadi has identified close two hunderd of new genes involved in hereditary intellectual disability in Iranian families, extending the boundaries of our scientific knowledge. Based on this knowledge, genetic counseling and prenatal diagnosis of intellectual disabilitieshave been provided for hundreds of Iranian families up to the present time.

Another eminent activity in the Molecular Division of the laboratory under the management of Dr. Najmabadi, was the development of the next generation sequencing (NGS)method, thus providing genetic services for families with Mendelian diseases. At first, the sequencing service included only targeted sequencing panels for known heritable Mendelian diseases. At the same time, he developed the Whole Exome Sequencing service whichenhanced thedetection rate, and was used for several inheritable disorders such as intellectual and cognitive disabilities, metabolic diseases,spinal muscular atrophy, hearing loss, blindness, and different kinds of cancer. Application of NGS techniques has improved the overall diagnosis rate and will contribute to the early identification of new mutations or genes.

Professor Najmabadi is a leader in establishing cancer diagnosis as well as somatic mutation analysis for different types of cancer including colorectal carcinoma, lung cancer, and leukemia’s using mutation detection of N-RAS, K-RAS, EGFR to provide effective treatments for cancer.