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International Advisors

Dr. Stephen C. Groft

Dr.-Stephen-GroftFormer Director, Office of Rare Disease Research, NIH, USA

In 2003, Dr. Groft led the effort to establish the Rare Diseases Clinical Research Network (RDCRN), which enables collaborative, trans-NIH clinical research on causes, prevention, outcomes, and treatments of rare diseases. This initiative has led to the development of a number of therapeutic products that have received or are being reviewed for FDA approval.

In 2008, Dr. Groft worked with NHGRI, the NIH Clinical Center, and other NIH Institutes and Centers to create the Undiagnosed Diseases Program (UDP), a multi-disciplinary initiative designed to provide the public with information regarding rare and undiagnosed diseases.

Dr. Groft established the International Rare Diseases Research Consortium (IRDiRC) in 2012 to encourage international collaboration in rare diseases research.

Dr. Dhamija

Dr.-DhamijaDr. Dhamija received her MBBS from All India Institute of Medical Sciences, New Delhi, India. She completed her residency training in Child Neurology and fellowship in Medical Genetics at Mayo Clinic, Rochester and is dual boarded in Neurology and Genetics. She is a Diplomat of the American Board of Psychiatry and Neurology (ABPN) and American College of Medical Genetics and Genomics (ACMGG). She then spent 2 years at the University of Virginia where she was an Assistant Professor in Neurology and served as the associate program director for their child neurology training program. Dr. Dhamija was appointed as Senior Associate Consultant in the enterprise Department of Clinical genomics at Mayo Clinic (Arizona) in January, 2017. She is the first medical geneticist at Mayo Arizona and launched a new department. Dr. Dhamija is an academician, a clinical researcher, and a geneticist with a special interest in neurogenetics and neurometabolic diseases. She has given several presentations at regional, national, and international meetings and has over 45 peer-reviewed original papers and articles to her credit.

Professor Meena Upadhyaya

Professor-Meena-UpadhyayaProfessor Meena Upadhyaya OBE has worked in medical molecular genetics since the discipline’s infancy. She was recognised as the 1st female British-Indian professor in medical genetics in the UK.

Meena completed a fellowship with the Royal College of Pathologists in 2000, becoming one of the 1st people to do so in the field of medical genetics. Her research career focused on many genetic disorders, especially neurofibromatosis type I (NF1) and facioscapulohumeral muscular dystrophy. She has authored more than 200 scientific articles and 3 textbooks and received many awards including the Inspire Wales Award (2010) and the European Neurofibromatosis Association Award (2013) for her outstanding contributions to NF1. She has represented Cardiff at many international meetings. She was a professor at Cardiff University’s Institute of Cancer Genetics and directed the All Wales Medical Genetics Service Research and Development Laboratory until her retirement in 2014, thereafter serving as an honorary distinguished professor at Cardiff University and an honorary fellow of the Wales University Trinity Saint David.

Prof Upadhyaya is also a passionate advocate for women of ethnic minorities; she founded the Welsh Asian Women Achievement Awards now known as Ethnic Minority Welsh Women Achievement Association and Ethnic Minority Women in Welsh Healthcare and has served as a Mentor on Dame Rosemary Butler’s Women in Public Life scheme. She is a trustee for Women’s Equality Network for Wales, Race Equality First, Race Council Cymru, governor for India Centre. She was recently given Saint David Award for innovation, science and technology.

Dr. Anita Aggarwal

Anita-AggarwalOncologist/hematologist Attending physician, Associate Professor of Medicine

I have the expertise, leadership, training, and motivation necessary to successfully fulfill the role of PD/ PI and carry out the proposed research project. I have a broad background in oncology and hematology with specific training and expertise in breast cancer. Breast cancer has been close to my heart. As medical director of Breast Cancer Center from 2004 to 2007, Med star Washington Hospital Center, I was the PI of >10 corporate as well as pharma

sponsored breast cancer studies. I conducted investigator initiated neo adjuvant chemotherapy trial using Abraxane and xeloda in locally advanced breast cancer which was funded by Roche and ABI pharmaceuticals. Currently, I am working on breast cancer in males and female veterans, a retrospective VINCI data analysis of >7800 breast cancer including 1750 males. This is the largest male breast cancer data available in USA. In addition, I have a collaborative project with Dr. Park, John’s Hopkins University, to determine the loss of Y chromosome in male breast cancer which may harbor a potential novel tumor suppressor gene. As a PI of another project “Anexxin-II dependent neo angiogenesis in male breast cancer”, we are looking if the over expression of Anx-II correlates with human breast cancer progression and is predictive of poor clinical outcomes. In addition, I have successfully administered the projects (e.g. staffing, research protections, budget), collaborated with other researchers, and produced several peer-reviewed publications from each project.

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Nazneen Aziz, PhD

Nazneen-AzizSenior Vice President of Research and Chief Research Officer.

Dr. Aziz is a key advisor to ORDI on global standards, guidelines and policy issues surrounding new born screening, non-invasive prenatal testing, and diagnosis of rare pediatric diseases. In her role as SVP and Chief research officer at Pheonix Children’s Hospital, she is responsible for the development of the strategic and operational direction of the Ronald A. Matricaria Institute of Molecular Medicine and Barrow Neurological Institute in collaboration with their directors. Dr. Aziz has overall executive management responsibilities for developing, coordinating, and stimulating research and creative activity at the Phoenix Children’s Research Institute.
In her most recent position, Dr. Aziz was the Director of Molecular Medicine at the College of American Pathologists (CAP). In this role, she was responsible for initiating and guiding genomic strategies and projects at CAP, along with developing relations with key partners. During her tenure at CAP, she directed the development of the first set of laboratory accreditation standards for clinical tests using next generation sequencing and non-invasive prenatal screening. Dr. Aziz is a member of workgroups at the CDC, NIST, AMP and ACMG involved in developing best practice guidelines and standards for genomic analysis using NGS testing. Dr. Aziz is also a member of the board of overseers of Marine Biological Laboratories/University of Chicago.

In her prior positions, Dr. Aziz served as Vice President of Research and Development at Interleukin Genetics; Vice President of External Research at Point Therapeutics; and Director of Translational Research at Novartis Institute of Biomedical Research. In her industry career, she focused on personalized medicine, biomarkers, genetic tests, and development of drugs in cancer and diabetes. Prior to joining the biotechnology industry, Dr. Aziz was an assistant professor at Harvard Medical School and Children’s Hospital in Boston where she discovered and characterized the function of a new gene involved in recessive polycystic kidney disease.

Dr. Aziz received her PhD in molecular genetics at Massachusetts Institute of Technology, where her doctoral research resulted in the discovery of a novel mechanism of regulation of translation of mRNAs. She received her MS in biochemistry at the Massachusetts Institute of Technology and her BA from Wellesley College in Massachusetts. She has published extensively in the medical and scientific literature and has been invited to speak at numerous national and international conferences.

Dr. Kasturi Haldar

kasturiRev. Julius Nieuwland, C.S.C. Professor of Biological Sciences
James C. Parsons and Carrie Ann Quinn Director of the Center for Rare and Neglected Diseases
Massachusetts Institute of Technology (Ph.D., Biochemistry)
Site of Fellowship: Rockefeller University



Dr. Ramani Ramachandran

Ramchandran_Ramani_PhDRamani Ramchandran, Ph.D. Professor Children’s Research Institute Medical College of Wisconsin

Major Research Interets are:

1. Developmental Vascular Biology:Vasculogenesis and Angiogenesis Mechanisms in Zebrafish and Mice
2. Vessel and Axon Guidance
3. Zebrafish Chemical Biology
4. Translational Models of Disease
5. Tumor Metastasis

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