Yuval Yaron

Prof. Yuval Yaron | President Israel

Prof. Yuval Yaron Director, Prenatal Diagnosis Unit, Genetic Institute Director, Preimplantation Genetic Diagnosis (PGD) Laboratory Tel Aviv Sourasky Medical Center, Israel.
Education and Training
1981-1988 Sackler Faculty of Medicine, Tel Aviv University, Israel - Medical School
1989-1995 Sourasky Medical Center, Tel Aviv, Israel – Residency in Ob/Gyn
1989-1992 Tel Aviv University, Postgraduate Courses in Ob/Gyn
1995-1997 Wayne State University, Detroit, MI, Fellowship in Medical Genetics Appointments
2000-2005 Tel Aviv University, Department of Ob/Gyn - Senior Lecturer
2001-2006 Secretary, Israeli Society of Medical Geneticists
2005-date Tel Aviv University, Department of Ob/Gyn - Associate Professor Diplomas 1990 Medical Diploma, Magna Cum Laude, Tel Aviv University. 1992 Certificate - Educational Commission for Foreign Medical Graduates, USA 1995 Specialist Diploma in Obstetrics & Gynecology, Israel 1995 Clinical Academic License - Michigan Board of Commerce, MI, USA 1997 Michigan Medical License - Michigan Board of Commerce, MI, USA 1997 Specialist Diploma in Clinical Genetics, Israel 2000 Certificate - American Board of Medical Genetics 2003 GCP Certificate Association of Clinical Research Professionals Membership in Professional Societies 1988 Israel Medical Association. 1991 Israel Society of Obstetrics and Gynecology 1992 Israel Fertility Society. 1997 Israeli Society of Medical Genetics 2008 International Society for Prenatal Diagnosis Publications: Over 150 peer-reviewed papers, 20 chapters in books

Zeev Shoham

Prof. Zeev Shoham | Israel

Professor Zeev Shoham serves as the head of the Fertility and IVF Unit at the Kaplan Medical center in Rehovot, Israel.
Professor Shoham was born and raised in Jerusalem, Israel. He received his M.D. degree from the Hadassah Medical Center in 1981. Later completing, his residency at Kaplan Hospital in Rehovot, and his fellowship in infertility and in vitro fertilization ​​at Tel - Hashomer Hospital and MIDDLESEX Hospital in London, UK. Since 1988 he has specialized in a wide range of treatments including:
Fertility treatments, in vitro fertilization, oocyte retrieval preservation and freezing, donor eggs and sperm, care for women during pregnancy and follow-up and treatment of postmenopausal women.
In 1991 Prof. Shoham received an award from the European Society of Human Reproduction and Embryology for the best scientific research that year in Europe for his work on stimulating sperm production by adding GH to treatment with gonadotropins in patients with hypogonadotropic hypogonadism.
Professor Shoham has published over 140 papers in the field of Reproductive Medicine, and his publications had won international awards. In addition, he has contributed chapters to numerous books. He is the editor/ author of the textbook, Female Infertility Therapy: Current Practice (1999), and one of the four editors of the textbook, Assisted Reproductive Techniques, which is at its fourth edition.
Professor Shoham is the co-founder of IVF-Worldwide the most comprehensive website on in-vitro fertilization. Professor Shoham has been organizing internationals medical conferences for the past 18 years and is a lecturer in many conferences in the field.

Simon Fishel

Prof. Simon Fishel | UK

Simon Fishel is the Founder and President of the CARE Fertility Group, following 18 years as its CEO. He has worked in the field of Assisted Reproduction Technology/Assisted Conception for over 30 years and was part of the original pioneering IVF team with Steptoe and Edwards that produced the World first IVF ("Test tube") baby. Simon has published over 200 academic papers, four books in the IVF field, established numerous clinics worldwide and was the first to introduce IVF to China in the 1980's as part of a WHO initiative. His research career began at the University of Cambridge, where he worked for several years with Professor Robert Edwards prior to the birth of Louise Brown, in 1978. During this time Dr Fishel was the first to demonstrate that the embryo 'communicates' with its environment; and, later, was the first to publish on the synthesis and secretion of HCG by the human embryo. In 1978 he was appointed a Fellow of Churchill College, Cambridge, became a Cambridge University Lecturer and was awarded the prestigious Beit Memorial Fellowship. In 1980 he became Deputy Scientific Director at the world's first "test tube baby clinic", working with Robert Edwards and Patrick Steptoe until 1985 when he moved to Nottingham. During the mid to late 1980's Simon was responsible for developing techniques for micromanipulation in ART, leading to the first published birth with sperm microinjection, in 1990; a technology that was the forerunner to what is now the well-established ICSI technique. Professor Fishel is a Fellow of the Royal Society of Biology and an internationally acclaimed IVF scientist; having received many honorary awards from countries such as Japan, Austria, Italy, South Africa and the US, amongst others. In 1992 he founded the World first degree course in IVF and ART, and he has advised several international Government committees reviewing policy and legislation on IVF, including advisors to the Vatican. He was awarded a Personal Professorial Chair in Human Reproduction at the University of Nottingham before establishing the CARE Fertility Group in 1997. More recently Simon has been instrumental in driving the first real time array CGH program in IVF that resulted in the first successful use of egg or embryo chromosome evaluation in 2009, which is now used worldwide, and more recently CAREmaps – the pioneering breakthrough involving time-lapse imaging algorithms. Simon is on the board and reviewer for several international journals, a Patron of numerous organizations, held several advisory roles for the HFEA, and in 2009 was honoured by Liverpool John Moores University with their highest award of 'University Fellow' for "outstanding contribution to science and to humanity".

Mark I. Evans

Prof. Mark Evans | USA

Dr. Mark I. Evans is President of the Fetal Medicine Foundation of America, Professor of Obstetrics & Gynecology at Mt. Sinai School of Medicine, and President of the International Fetal Medicine and Surgery Society Foundation. Dr. Evans has been a pioneer of many advances in obstetrics including CVS, genetic screening, fetal muscle biopsy for Duchenne Muscular Dystrophy, and fetal reduction. He developed the method for the first prevention of a birth defect (congenital adrenal hyperplasia), and was part of the first open fetal surgery for diaphragmatic hernia and fetoscopic umbilical cord ligation for TRAP. He performed the first successful in utero stem cell transplant to cure a baby with SCIDS (bubble baby).

Dr. Evans has over 1100 scientific publications including 30 text books. He has had multiple NIH grants including being a principal investigator for the search for fetal cells in maternal blood. He has received numerous national and international honors including receiving the President’s Award for Achievement from the Society for Gynecologic Investigation, and being elected President of the International Fetal Medicine and Surgery Society twice. He has received awards from Planned Parenthood and the National Organization for Women for his work in defending women’s rights.

Ronald Wapner

Prof. Ronald Wapner | USA

Currently, Dr. Wapner is the Vice Chair of Research in Obstetrics and Gynecology for Columbia University Medical Center and Director of Reproductive Genetics. Dr. Wapner is an internationally known physician and researcher specializing in reproductive genetics. He pioneered the development of chorionic villus sampling (CVS) and multi-fetal reduction. He has authored or co-authored over 300 publications and he has been an active investigator in the area of Maternal-Fetal Medicine. He is either a principal or co-investigator for a number of NICHD sponsored multi-center studies. He serves as the center PI for the National Standards for Fetal Growth study and the NuMoM2B study at Columbia University in the Maternal Fetal Medicine Units Network. Most recently, Dr. Wapner led a multicenter study evaluating the accuracy, efficacy, and clinical advantages of prenatal diagnosis using microarray analysis. In February of 2015, Dr. Wapner received a Lifetime Achievement Award from the Society for Maternal-Fetal Medicine. He has had a significant role in the development of multidisciplinary research studies and clinical research centers throughout his career.

David Chitayat

Prof. David Chitayat | Canada

Professor David Chitayat obtained his MD, Summa Cum Laude Absoluto from Tel- Aviv University, Sackler School of Medicine. After graduating from medical school, he served in the Israeli Defense Force and was promoted to the position of a Major. He completed his residency in Pediatrics at the Tel-Aviv Municipal Medical Center and did his fellowship in Medical Genetics at the Genetic Counselling Program at Albert Einstein School of Medicine, The Yeshiva University, NY, NY, USA and at the Department of Medical Genetics, University of British Columbia, BC, Canada. He joined the Department of Pediatrics, Division of Clinical Genetics, McGill University in 1989 and in 1991 joined the Division of Clinical and Metabolic Genetics at The hospital for Sick Children and the Prenatal Diagnosis and Medical Genetics Program at Toronto General Hospital and later at Mount Sinai Hospital. Some of his current posts include, Medical Director of The MSc Program in Genetic Counselling, University of Toronto; Head, The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital and Staff, Division of Clinical and Metabolic Genetics, Department of Pediatrics; University of Toronto.

Dr. Chitayat is a Professor in the Departments of Pediatrics, Molecular and Medical Genetics, Obstetrics and Gynecology and Laboratory Medicine and Pathobiology and is a fellow of the American Board of Medical Genetics, The Canadian College of Medical Genetics, The Royal College of Physicians and Surgeons of Canada and the American College of Medical Genetics.

Dr. Chitayat has published over 15 book chapters and nearly 300 peer reviewed papers. He has been an invited visiting professor, and a keynote speaker at national and international universities and institutions.

Marcus Hughes

Prof. Marcus Hughes | USA

Professor Mark Hughes graduated in Biology and Chemistry from St. Johns University followed by a Masters in Biophysics at Stanford University and a Ph.D. in Molecular Biochemistry at the University of Arizona Medical
Center. He continued his training at the Baylor College of Medicine in Houston as a postdoctoral fellow with Bert O'Malley, where his pivotal work was published in Science and Nature and involved the cloning of the vitamin D and
progesterone receptors and characterization of the first mutations found in human gene transcription factors. Mutations in the "tips" of zinc fingers of the vitamin D receptor were identified in the DNA of patients with rickets.
These were the first mutations identified in any human gene transcription factor. Following this training Hughes completed his M.D. at Baylor, followed by house staff training in Internal Medicine and clinical subspecialty training at
Duke University. He then returned as junior faculty to Baylor's newly formed Genetics Institute led by Thomas Caskey and Arthur Beaudet. Among his accomplishments was the realization that single cells could be molecularly
data mined for diagnostic advantage: This led to a multi-year collaboration with reproductive endocrinologists and embryologists at the Hammersmith and UCLondon; the field of Preimplantation Genetic Diagnosis was born. In 1993
Hughes' research was recognized by Science magazine as being one of the "ten most significant advances" in all of science that year; spanning all the physical, biological and mathematical sciences for that year.

It was then that Professor Hughes was recruited to be one of the first 11 members of the Human Genome Institute at NIH. The Genome Project was getting underway and Hughes was recruited to lead the section on Translational
Genomic Diagnostics. He also was named chair of Human Genetics at Georgetown University. Doctor Hughes then moved to Michigan to take a position as Professor and Director of Molecular Medicine and Genetics, Professor of
OB-Gyn, and Professor of Pathology at Wayne State. He was named as the Director of the State of Michigan's 'Life Sciences Genomics Hub', a joint state-wide project with the University of Michigan and Michigan State University.

Hughes' work has centered on understanding gene expression in the early human embryo. His work on embryonic stem cells was acknowledged in 2001 when, along with Ian Wilmut (of Dolly the sheep fame) Hughes was awarded
the "Pioneer in Stem Cell Biology" award. Professor Hughes, along with Professor Lord Robert Winston and Dr. Alan Handyside developed and performed the world's first cases of has PGD. As we know, this field is now practiced world
wide – today's speaker continues to push the frontiers of this technology and guide it in all its ethical ramifications, while he has expanded this work to systems-wide molecular understanding of early embryo development. In January
he co-authored the first proven somatic cell nuclear transfer involving human somatic cells and oocytes (in other words, these scientists actually did what the South Korean group lied about). His clinical/scientific goal has been to
better understand, and hopefully prevent, many inherited birth defects of children. You may have seen him on the two hour BBC special last month. He has appeared on "Good Morning America", the "Today show", "CBS Evening
News", and the subject of television newsmagazine segments for 60 Minutes and 20/20, and full hour programs on the Discovery Channel. His PGD work to assist couples avoid serious disease in their children and, at the same time,
obtain a stem cell cure for a sick child already in the family, has gained world-wide attention. Most recently, his group has begun a program for patients with inherited neoplasia. Patients (250) undergo fertility preservation with
oocyte/embryo genetic analysis prior to cancer treatment. Because of federal funding limitations on embryonic stem cell science, he moved the clinical PGD aspects of his work into the Genesis Genetics Institute where this technology
is provided in concert with some 470 human reproductive centres in North and South America, Europe, Africa and Asia.

Andreas Schmutzler

Prof. Andreas Schmutzler | DE

Dr.med. Andreas Schmutzler,
The International School of Medicine was founded in 2008. It is managed by Dr.med. Andreas
Schmutzler, a German gynaecologist and lawyer, head of the Kiel University IVF programme,

Dagan Wells

Prof. Dagan Wells | UK

Dagan Wells has been involved in preimplantation genetic diagnosis (PGD) and research into human gametes and embryos for over two decades. After studying at University College London, he relocated to the USA, working with Reprogenetics, one of the world's largest providers of PGD. Dagan established a research laboratory at Yale University, before returning to the UK. He is now an Associate Professor at the University of Oxford. Dagan's work has led to the publication of more than 150 papers, patents and multiple research grants and prizes. He serves on the
Editorial Board of several journals and also directs Reprogenetics-UK, an independent laboratory offering state-ofthe-art PGD services to IVF clinics throughout the UK and internationally.

Yariv Yogev

Prof. Yariv Yogev | Israel

Prof. Yariv Yogev graduated medical school in The Technion University, Haifa, Israel and completed his residency in Obstetrics and Gynecology at Helen Schneider Hospital, Rabin Medical Center. He completed his clinical and research fellowship in Maternal Fetal Medicine at Columbia University and St. Lukes-Roosvelt Hospital in New York. Currently, he is the Chairman of the division of Obstetrics and Gynecology of Lis Hospital of Women, in Tel Aviv Sourasky Center (Ichilov) which is a tertiary University affiliated Hospital with approximately 12,000 deliveries a year. Prof. Yogev is the President of the Israel Society for Maternal and Fetal Medicine, past vice president of the Israeli association for obstetrics and Gynecology, The past moderator of the diabetes in pregnancy program in the American Society for Maternal Fetal Medicine (SMFM) and board member in the Israel residency board exams. He contributed more than 190 peer-reviewed articles, edited 2 books and contributed many other chapters in books, and his main in interest in research are pregnancy complication, especially diabetes and preterm labor.

Milton Leong

Prof. Milton Leong | China

Prof. Milton Ka Hong Leong was brought up in Hong Kong, finished his basic school years, and then went to attend McGill University in Montreal Canada. He did Honours Biochemistry as an undergraduate, and then Medical School. Further postgraduate training in Obstetrics and Gynecology followed, and he obtained his specialists degree in 1974. He then went to London on a McLaughlin Fellowship granted by the Canadian Royal College where he studied under Professors Richard Beard and Stuart Campbell. Returning to Montreal, he joined the McGill University Department as academic staff, and was active in teaching and also headed the High Risk Obstetric Unit.
In 1979 Prof. Leong returned to Hong Kong and engaged in private practice. Seeing a need at that time, he started to concentrate in the study and treatment of Infertility. He set up the IVF Centre at the Hong Kong Sanatorium and Hospital, a private hospital, in joint venture form, and with his partner Dr Clement Leung, they built it up to be one of the most successful IVF clinics in Asia and the world. He "made" and delivered the first IVF baby in Hong Kong in 1985,and in the last 20 years had researched, published, and taught the art and science of infertility and the assisted reproductive techniques.
Prof. Leong is a member of the various reproductive medicine societies, and various international committees. He lecture widely, and still plays an active academic role, and remains to be an Adjunct Professor of Obstetrics and Gynecology in McGill University. His current interest is how to provide the optimal treatment for infertile patients using a patient orientated, more holistic approach.

Ariel Weissman

Prof. Ariel Weissman | Israel

Professor Ariel Weissman graduated the Hadassah-Hebrew University Medical School in 1988. In 1994 he completed his residency in Obstetrics and gynecology at the Kaplan Medical Center, Rehovot, where he spent another two years working as a senior physician at the IVF unit. Prof. Weissman then pursued a 2-year research and clinical fellowship with Prof. Bob Casper at the Division of Reproductive Sciences, Department of Obstetrics and Gynecology, University of Toronto, Toronto, Canada. His main focus of research was transplantation of human ovarian tissue in immuno deficient mice. Upon returning to Israel in 1998, Prof. Weissman joined the IVF unit at the Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon, Tel Aviv University Sackler Faculty of Medicine where he currently holds a position of an associate Professor.
Together with David Gardner PhD, Colin Howles PhD, and Zeev Shoham M.D., Prof. Weissman has published the "Textbook of Assisted Techniques: Laboratory and Clinical Perspectives", which is one of the leading books in the field of ART.

Ariel Hourvitz

Ariel Hourvitz

Professor Ariel Hourvitz is the director of the Reproduction Laboratory, and senior physician in the IVF unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, and Sackler School of Medicine, Tel-Aviv University, Israel.
He graduated the Sackler School of Medicine, Tel-Aviv University in 1985 and accomplished his specialization in obstetrics and gynecology in Tel-Hashomer hospital. He performed his research postdoctoral fellowship at the University of Utah, Health Sciences Center with Prof. Eli Adashi, and a visiting fellowship in infertility and in vitro fertilization with Prof. Zev Rosenwaks at The Center for Reproductive Medicine and Infertility (CRMI), Weill Medical College of the Cornell University and New York Presbyterian Hospital, New-York.
He obtained a Master in Obstetrics and Gynecology from the Sackler School of Medicine, and a Master in Health Administration Cum Laude, from the Faculty of Management, Tel Aviv University.
Professor Hourvitz research interests include basic research on ovarian physiology, folliculogenesis and characterization of the human ovulatory cascade. He has published over 100 peer-reviewed articles in international journals and books and has been invited to speak in national and international meetings.

Howard Cuckle

Howard Cuckle is Visiting Associate Professor, Obstetrics and Gynecology, Tel Aviv University, Israel; Adjunct Professor, Obstetrics and Gynecology, Columbia University Medical Center, New York, USA; Emeritus Professor, Reproductive Epidemiology, University of Leeds, UK. His other responsibilities include: Chinese University Hong Kong, Centre for Research into Circulating Fetal Nucleic Acids, Scientific Advisory Board; Genome Ltd, Director; International Society for Prenatal Diagnosis, Federation Co-Chair; Journal of Fetal Medicine, International Advisory Board; Journal of Medical Screening, Editorial Committee; NHS Central Research and Development Committee, Standing Group on Health Technology, Expert Advisory Network; Perinatal Quality Foundation, Nuchal Translucency Education and Quality Review (NTQR) program; Paediatric & Perinatal Epidemiology, Advisory Board; Prenatal Diagnosis, Editorial Board. He currently has over 450 publications in medical journals and books. The central focus of his research is screening and current projects are largely concerned with screening for Down's syndrome and adverse outcome of pregnancy such as early pre-eclampsia. The principal research technique is the linked biological and data bank. Banked material (blood, urine, slides, cells and DNA) is collected from pathological pregnancies and routinely from large numbers of apparently normal pregnancies. Screening markers are investigated either prospectively on all samples or in retrospective case-control subsets.

Eugene Pergament

Eugene Pergament, M.D., Ph.D, President, Northwestern Reproductive Genetics, Inc. and Reprogenetic Research, L.L.C.
Education:
1955 B.S. Yale University, New Haven, Connecticut
1957 M.S. Purdue University, Lafayette, Indiana
1959 Ph.D. Purdue University, Lafayette, Indiana
1970 M.D. University of Chicago, Chicago, Illinois
1971 Intern, Wyler Children's Hospital,University of Chicago, Chicago, Illinois
1972 Resident in Pediatrics, Wyler Children's Hospital, University of Chicago, Chicago, Illinois

Board Certification:
American Board of Medical Genetics: Clinical Genetics, 1982
Cytogenetics, 1984

Founding Member:
American College of Medical Genetics

Peter Alan Benn

Peter Alan Benn, Ph.D., F.A.C.M.G., D.Sc., Professor of Genetics and Developmental Biology, Director, Human Genetics Laboratories, University of Connecticut Health Center
DEGREE EDUCATION:

2006 University of St. Andrews, Fife, Scotland.
D.Sc. Thesis: Prenatal Screening and Diagnosis of Fetal Aneuploidy.
1973-76 University of Birmingham, Birmingham, England.
Ph.D. Cancer Studies. Thesis: Cytogenetic Studies on Human Cells in Culture.
1971-72 University of Birmingham, Birmingham, England.
M.Sc. Radiobiology.
1967-71 University of St. Andrews, Fife, Scotland.
B.Sc. [Honors] Physics, 2nd Class, 2nd Div.

APPOINTMENTS HELD:
Associate Director, Prenatal Diagnosis Lab of New York City, 1978-1984
Adjunct Assistant Professor, Dept. of Pathology, New York University, 1978-1984
Director of Medical Diagnostics, Lifecodes Corporation, New York, 1984-1989
Adjunct Assistant Professor, Dept. of Microbiology, New York Medical College, 1984-1990
Director of Medical Testing, Diagenetic Laboratories Inc., New Jersey, 1989-1990
Director, Human Genetics Laboratories, University of Connecticut Health Center, 1990-Present
Current academic position: Professor, Genetics and Developmental Biology and Professor, Pathology and Laboratory Medicine, UCONN Health Center.

Other Experience and Professional Memberships:
Board Certified – American Board of Medical Genetics, Clinical Cytogenetics, 1981
Medical Advisory Board, Disorders of Chromosome 16 Foundation, 1998-Present.
Member, State of Connecticut Genomics Advisory Panel. 2005-
Co-Chair, Science Workgroup. State of Connecticut Genomics Advisory Panel. 2005-
Editorial Board. Prenatal Diagnosis. 2010-
Chair. International Society for Prenatal Diagnosis Committee for Aneuplidy Screening. 2011-.
Course Director, Genetics and Public Health. MPH Program, UCONN Health Center, 2007-2014
Guest Faculty. European Cytogenetics Association, Advanced Course in Clinical Cytogenetics. 2011-
Board of Directors. International Society for Prenatal Diagnosis. 2012-2014
Chair, Prenatal Screening Special Interest Group (SIG), International Society for Prenatal Diagnosis. 2013-
Co-editor. Prenatal Perspectives (Newsletter of International Society for Prenatal Diagnosis). 2013-2015

Micheline Misrahi

Micheline Misrahi, Professor of Biochemistry and Molecular Biology Faculty of Medicine. University Paris-South Molecular Genetics of Reproductive and Metabolic diseases
Bicetre Hospital,France.
MD PhD: Medical Faculty Paris South 11, PhD in Biochemistry and Molecular Biology University Paris 6

FIELD OF INTEREST :

Molecular and cellular mechanisms in Reproductive and Thyroid Endocrinology.
Nuclear receptors, membrane receptors. Genetics of Infertility. Primary ovarian failure.

-RECENT RESPONSABILITIES IN RESEARCH EVALUATION AND TEACHING:

• Director of the "Cell Signalling, Neurosciences, Endocrinology and Reproduction" Doctoral School, PhD program, Paris South
• Member of the Scientific Council of the Paris-South Faculty of Medicine
• Coordinator of the National Institute of Health and Medical Research-. INSERM Endocrinology-Diabetes Interface Committee
• Member of the National Institute of Health and Medical Research- Committee of the National Research Program on Endocrinology and Reproduction
• Member of the Scientific Council of the National Institute for Health and Medical Research-INSERM.
• Expert at the French National Agency of Drug Safety
• Expert at the United State-Israel Bi-national Science Foundation

MAIN SCIENTIFIC RESULTS AND CONTRIBUTIONS

• Cloning of the human progesterone cDNA and of the human gene
• Cloning of the porcine LH/CG receptor and of the human gene.
• Cloning of the human TSH receptor cDNA and of the human gene
• Description of the basolateral targeting signals of the LH, FSH and TSH receptors
• Descrition of a new signalling pathway involved in TSHR trafficking involving hScriB
• Description of a two steps mecanism involved in the cleavage and shedding of the TSH receptor.
• Development of an ELISA test for the study of neutral and functional auto-antibodies directed against the TSH receptor.
• Description of loss of function and constitutive mutations of the TSH receptor in congenital hypothyroidism and non immune hyperthyroidism
• Description of the first genetic cause of non syndromic hypogonadotropic hypogonadism with mutations of the GnRH receptor
• Description the first genetic cause of familial Spontaneous Ovarian Hyperstimulation Syndrome with broadening specificity of the FSH receptor.
• Description of complete or partial genetic defects of the FSH receptor in Primary Ovarian Failure .
• Description of male infertility with mutant Luteinizing hormone.

PRESENTLY

Mainly involved in the genetic diagnosis of National Reference Centres in France focusing in male or female Infertility and Metabolic diseases and in International collaborations in this field.

More than 100 publications in the field with the main work published in Science, Nature, PNAS, New England Journal of Medicine, JAMA.
. Citations : more than 6000 .

Francesca Romana Grati

Francesca Romana Grati Ph.D. is a Biologist, Medical Geneticist, and European registered Clinical Laboratory Geneticists (ErCLG, European Board of Medical Genetics). She is the R&D Director and Head of the Molecular Cytogenetics Diagnostics Unit at TOMA, Advanced Biomedical Assays S.p.A. laboratory (Busto Arsizio, Varese, Italia). She is also Contract Professor at Graduate School of Medical Genetics (University of Milan).

Dr. Grati's special interests are in prenatal diagnosis and fetal genetics. She has published several articles in peer-reviewed journals including Ultrasound in Obstetrics and Gynecology, Prenatal Diagnosis, Genetics in Medicine and contributed to scientific books. She is an invited speaker at national and international scientific meetings and she also serves as a regular reviewer for numerous international journals, including Prenatal Diagnosis, Journal of Translational Medicine, American Journal of Pathology and American Journal of Medical Genetics. Her research is mainly focused on the genetics and epigenetics of placenta, specifically the characterization of fetoplacental mosaicisms and their impact on prenatal cfDNA testing technologies and the understanding of the epidemiology of chromosome abnormalities in prenatal population; she is also committed in the scientific evaluation of new diagnostic technologies, their setup and their laboratory and clinical validations (eg: preimplantation genetic screenings (PGS), chromosomal microarray (CMA), and cfDNA testing).

In 2000 Dr. FR Grati completed her graduation (summa cum laude) in Medical Genetics at University of Pavia in collaboration with the University of Milan (Dept. Medical Genetics, San Paolo Hospital) with a thesis on genetics and epigenetics of head and neck cancers. Thereafter, she trained as a Ph.D. at University of Pavia and, in 2004, she graduated summa cum laude with a thesis on the genetics and
epigenetics of intrauterine growth restriction (IUGR) developed in collaboration with the University of Milan (Dept. Medical Genetics, San Paolo Hospital). In 2011 she collaborated with the European Joint Research Community (JRC) on a project for the European harmonization for NIPT
technologies and wrote the 'Applied Genomics in the Clinic' Policy Report by the JRC of the European Commission . She is currently active member of the cytogenetics working group of the Italian Society of Human Genetics (SIGU) contributing to the development of the Italian Guidelines on CMA in prenatal diagnosis and on cytogenetics. She is also ISPD, ACMG and ESHG member.