INTERNATIONAL SPEAKERS

Alphabetically ordered

Mrs. Alexa Burgess

Mrs. Alexa Burgess

Veterinary Specialist, Rare Disease Advocate and Mother of a child with a rare disease, Perth, Australia

AU
Ms. Alexandra Heumber Perry

Ms. Alexandra Heumber Perry

Chief Executive Officer, Rare Diseases International, Geneva, Switzerland

CH
Mrs. Amanda Moore

Mrs. Amanda Moore

CEO, Angelman Syndrome Foundation, Aurora, Illinois, USA

US
Mrs. Amelia Beatty

Mrs. Amelia Beatty

Board of Directors, Foundation for Angelman Syndrome Therapeutics (FAST), Austin, Texas, USA

US
Dr. Anwar Baban

Dr. Anwar Baban

MD PhD

Consultant Clinical Genetics and Genomics, Rare Diseases and Medical Genetics Units, Bambino Gesu Children's Hospital & Research Institute, Rome, Italy

IT
Ms. Aster Lynn Sur

Ms. Aster Lynn Sur

Supervising Nurse and Project Development Officer IV, Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines

PH
Dr. Bahaa Jalal

Dr. Bahaa Jalal

Director, Center for the Disabled, Assiut University, Assiut, Egypt

Director, Help Center for the Middle East and North Africa, Kuwait, Kuwait

KW
Dr. Bremadesam Raman Lakshmi

Dr. Bremadesam Raman Lakshmi

Founder Trustee & Managing Director, Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Neelambur, Coimbatore, India

Founder Member & Vice President, Board of Genetic Counseling (BGCI-India)

Board Member, Asia Pacific Society for Human Genetics (APSHG)

IN
Dr. Chiara Cimmaruta

Dr. Chiara Cimmaruta

PhD

Postdoctoral fellow, Molecular Mechanisms of Pathological and Physiological Ageing, Institut Pasteur, Paris, France

FR
Dr. Cristina Skrypnyk

Dr. Cristina Skrypnyk

MD, PhD

Consultant Medical Geneticist, Genetics & Inherited Disorders, Al Jawhara Center for Molecular Medicine

Assistant Professor of Molecular Medicine, Arabian Gulf University & University Medical Clinics

Chair, Rare Disease Campaign & Care for Rare Support Group, Manama, Kingdom of Bahrain

BH
Dr. Dale Pugh

Dr. Dale Pugh

Project Consultant, Rare Care Centre, Perth Children’s Hospital, Perth, Australia

AU
Prof. Domenica Taruscio

Prof. Domenica Taruscio

MD

Former Director, National Centre Rare Diseases, Istituto Superiore di Sanità (Italian National Institute of Health); Co-Founder & Board Member, Undiagnosed Diseases Network International (UDNI); Past President, International Collaboration on Rare Diseases and Orphan drugs (ICORD); and President, Study Centre KOS – Science, Art, Society, Rome, Italy

IT
Dr. Douglas M. Sproule

Dr. Douglas M. Sproule

MD, MSc

Chief Medical Officer, ML Bio Solutions, Palo Alto, California, USA

US
Ms. Emma Michl

Ms. Emma Michl

Metabolism Nurse Practitioner & Advanced Practice Nurse II, Division of Genetics & Genomics, Boston Children’s Hospital, Boston, USA

US
Dr. Erin Connolly-Strong

Dr. Erin Connolly-Strong

PhD

Chief Medical Officer, Inocras, San Diego, California, USA

US
Dr. Ersen Kavak

Dr. Ersen Kavak

Founder & CEO, Genomize INC., Istanbul, Turkey

TR
Dr. Geethanjali Devadoss Gandhi

Dr. Geethanjali Devadoss Gandhi

Post-doc, Laboratory of Genomic Medicine, Sidra Medicine, Doha, Qatar

QA
Prof. Gong Mengchun

Prof. Gong Mengchun

MD

Professor, Biomedical Engineering School, Guangdong Medical University, Guangdong, China

SVP and CMO, DHC Technologies, Beijing, China

Management Board Director, SNOMED International, London, United Kingdom

Diagnostic Science Committee Member, IRDiRC, Paris, France

CN
Prof. Huma Cheema

Prof. Huma Cheema

MRCP (UK) DPGN(Lond)

Director, Foundation for Research in Genetic Medicine & Genomics

Chairperson, Pakistan Pediatric Association, Gastroenterology and Hepatology Group

National Program Director, Pediatric Gastroenterology, Hepatology, & Nutrition Fellowship

Professor Emeritus, Pediatric Gastroenterology, Hepatology, & Nutrition, the Children's Hospital & the University of Child Health, Lahore, Pakistan

PK
Dr. Isidro Arévalo Vargas

Dr. Isidro Arévalo Vargas

MSc. Ph.D.

Student, Universidad de Zaragoza, Zaragoza, Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher (FEETEG), and Instituto de Investigación Sanitaria Aragón (IISA), Zaragoza, Spain.

Corporación Unificada Nacional de Educación Superior CUN, Bogotá, Colombia.

ES
Ms. Kaila Stevens

Ms. Kaila Stevens

Meeting Organizer, Global Nursing Network for Rare Diseases 2nd Meeting,

Program Manager, Rare Care Centre, Perth Children’s Hospital, Perth, Australia

AU
Dr. Khalid Al-Thihli

Dr. Khalid Al-Thihli

MD, FRCPC, FCCMG

Senior Consultant Clinical & Biochemical Genetics, ​Genetic & Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman

OM
Dr. Khedidja Hedna

Dr. Khedidja Hedna

PhD, MPH, MScPharm

Associate Epidemiologist at University of Gothenburg, Gothenburg, Sweden

Mother of a child with myasthenia gravis

SE
Dr. Kuldeep Singh

Dr. Kuldeep Singh

Head of Pathology, Wave Life Sciences, Lexington, Massachusetts, USA

US
Mr. Kyle Rooney

Mr. Kyle Rooney

President, Angelman Syndrome Foundation, Aurora, Illinois, USA

US
Dr. Lama Bani Salameh

Dr. Lama Bani Salameh

Medical Student, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan

JO
Prof. Maha Zaki

Prof. Maha Zaki

MD, Ph.D

Professor, Clinical Genetics Department, Human Genetics & Genome Research Institute, National Research Centre.

Professor, Genetics Department, Armed Forces College of Medicine, Cairo, Egypt

EG
Dr. Michael Segal

Dr. Michael Segal

MD, PhD

Chief Scientist, SimulConsult, Massachusetts, USA

US
Mr. Mohammed AlBlowi

Mr. Mohammed AlBlowi

Senior Optometry Specialist, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia

SA
Dr. Nicholas Johnson

Dr. Nicholas Johnson

MD, MSCI, FAAN

Vice Chair of Research, Director of Center for Inherited Muscle Research (CIMR), and George Bliley Research Chair in Neurology, Virginia Commonwealth University, Richmond, Virginia, USA

US
Dr. Nisha Venugopal

Dr. Nisha Venugopal

PhD

Associate Director, Patient-Focused Programs and Operations, Indo US Organization for Rare Diseases (IndoUSrare), Herndon, Virginia, USA

US
Mrs. Parvathy Krishnan

Mrs. Parvathy Krishnan

Founder & Executive Director, Krishnan Family Foundation, USA

US
Dr. Petra Oliva

Dr. Petra Oliva

PhD

International Lead, ARCHIMED Life, Vienna, Austria

AT
Dr. Rasha Al Safi

Dr. Rasha Al Safi

Consultant Pediatrics, Clinical Genetics, and Metabolic Disorders, Adan Hospital, Ahmadi, Kuwait

KW
Prof. Rodrigo Pinheiro Araldi

Prof. Rodrigo Pinheiro Araldi

Founder & Scientific Director, BioDecision Analytics Ltda, Sao Paulo, Brazil

Professor of Molecular Biology, Paulista School of Medicine, Federal University of Sao Paulo, Sao Paulo, Brazil

BR
Dr. Rohaid Ali

Dr. Rohaid Ali

MD

LPG Neurosurgery, Brown University, Providence, Rhode Island, USA

US
Dr. Rola Ba-Abbad

Dr. Rola Ba-Abbad

Chair of Ocular Genetics Services & Senior Consultant Ophthalmology,

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia

SA
Ms. Ruth Hosken

Ms. Ruth Hosken

Nurse Practitioner, Huntington Disease & Movement Disorders, Calvary Health Care Bethlehem, Australia

AU
Mrs. Sally Asfour

Mrs. Sally Asfour

Treasurer, Foundation for Angelman Syndrome Therapeutics (FAST); and Mother of a Child with Angelman syndrome, Sydney, Australia

AU
Dr. Samuel JK Abraham

Dr. Samuel JK Abraham

MD, PhD, FRCP(L)

Faculty of Medicine, University of Yamanashi and Head, Research and Development, GN Corporation, Japan

JP
Ms. Sharron Meadows

Ms. Sharron Meadows

Neuromuscular Nurse Specialist, Auckland District Health Board, Auckland, New Zealand

NZ
Dr. Souad Messahel

Dr. Souad Messahel

BSc, MSc, PhD

Clinical Neuroscientist and Head Of Clinical Operations, Elpida Therapeutics, California, USA

US
Ms. Sue Baker

Ms. Sue Baker

Meeting Convenor, Global Nursing Network for Rare Diseases 2nd Meeting,

Program Director, Rare Care Centre, Perth Children’s Hospital, Perth, Australia

AU
Mr. Svein Olaf Olsen

Mr. Svein Olaf Olsen

President of the International Huntington Association, Søgne, Norway

Founder and owner of Anzyz Technologies AS, Grimstad, Norway

NO
Prof. Tawfeg Ben-Omran

Prof. Tawfeg Ben-Omran

MD, FRCPC, FCCMG, FACMG

Division Chief, Genetic & Genomic Medicine, Sidra Medicine

Senior Consultant, Medical Genetic Department, Hamad Medical Corporation

Professor, Weill Cornell Medical College, Doha, Qatar

QA
Mr. Terry Pirovolakis

Mr. Terry Pirovolakis

CEO, Elpida Therapeutics, California, USA

US
Ms. Tessa Diaczun

Ms. Tessa Diaczun

Nurse Practitioner and Clinical Lead, BC Children’s Hospital Slocan Site Redevelopment Project, BC Children’s Hospital, Vancouver, Canada

CA
Prof. Uğur Özbek

Prof. Uğur Özbek

Chair, RAREBOOST Project; Director, Rare and Undiagnosed Disease Platform; and Orphanet Country Coordinator, Izmir BioMedicine and Genome Center, Izmir, Turkey

TR
Dr. Zainab Al-Sulaitti

Dr. Zainab Al-Sulaitti

Emergency Physician, University Hospital Hairmyres, Glasgow, Scotland, UK

GB
Mrs. Zoe Morrison

Mrs. Zoe Morrison

Syndromes Without a Name Clinical Nurse Specialist,

Cardiff and Vale University Health Board, Wales, United Kingdom

GB
Prof. Zulf Mughal

Prof. Zulf Mughal

Consultant in Pediatric Bone Disease, Royal Manchester Children's Hospital

Professor in Child Health, Manchester University NHS Foundation Trust, Manchester, UK

GB
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