Speaker profiles

Christopher P. Austin

Christopher P. Austin

National Center for Advancing Translational Sciences, National Institutes of Health

International Rare Diseases Research Consortium (IRDiRC)
08:30 on Friday, 21 October

Gaining access to available NIH rare diseases and translational research resources
13:45 on Friday, 21 October

Julia Ambler

Julia Ambler

Umduduzi – Hospice Care for Children

A case based palliative care approach to children with rare diseases

13:30 on Wednesday, 19 October

Gareth Baynam

Gareth Baynam

Western Australian Department of Health

The Western Australian Register of Developmental Anomalies and Australian Aboriginal Genomics and Phenomics

15:30 on Thursday, 20 October

Louisa Bhengu

Louisa Bhengu

National Health Laboratory Service

A genetic approach for rare inherited metabolic diseases

13:30 on Wednesday, 19 October

Jason Blackman

Jason Blackman

Marken

Logistical aspects of access to treatment

11:00 on Friday, 21 October

Jacqui Bunge

Jacqui Bunge

The Children’s Therapy Centre

Early intervention and Neuromusculoskeletal Health

10:15 on Wednesday, 19 October

Henriette Burger

Henriette Burger

Stellenbosch University

Malignant Peripheral Nerve Sheath Tumours (MPNST) associated with Neurofibromatosis Type I: a case series and discussion of the implications for screening, referral and management in the Western Cape

10:15 on Wednesday, 19 October

Petra Burger

Petra Burger

Hospice Palliative Care Associate (HPCA)

The “magic wand” to quality of life for persons with disabilities

13:30 on Wednesday, 19 October

João Carapinha

João Carapinha

Carapinha & Company

African Overview of the Rare Disease field

09:00 on Thursday, 20 October

Raquel Castro

Raquel Castro

EURORDIS

Overcoming unmet social and daily life needs of people living with a
rare disease

08:30 on Saturday, 22 October

James Chipeta

James Chipeta

University of Zambia School Of Medicine

Spectrum of Congenital anomalies among newborns from selected
Sub-Saharan African Tertiary Hospitals: Focus on Zambia

15:30 on Thursday, 20 October

Safiyya Dharssi

Safiyya Dharssi

Pfizer

Analysis of rare disease global policies and programmes to advance access to care and treatment

08:30 on Friday, 21 October

Marli Dercksen

Marli Dercksen

The Potchefstroom Laboratory for Inborn Errors of Metabolism

Hyperammonemia and inborn errors of metabolism (IEMS): Known and novel application for differential diagnosis

10:30 on Wednesday, 19 October

Petrus de Vries

Petrus de Vries

University of Cape Town

Behaviour and diagnostics

13:15 on Thursday, 20 October

Benjamin Djoudalbaye

Benjamin Djoudalbaye

African Union Commission

Panel Discussion: Newborn Screening

15:30 on Wednesday, 19 October

Peta-Anne Durrant

Peta-Anne Durrant

Elsabé Klinck Consulting

Patient reimbursement rights

15:30 on Wednesday, 19 October

Monika Esser

Monika Esser

Stellenbosch University

Diagnostics of rare diseases and PID in South Africa and Africa

13:15 on Thursday, 20 October

Karen Fieggen

Karen Fieggen

University of Cape Town

An overview of Lysosomal Storage Disease

13:30 on Wednesday, 19 October

Andrea Fraser-Aldridge

Andrea Fraser-Aldridge

The Children’s Therapy Centre

How we move matters

10:30 on Wednesday, 19 October

Stephen C. Groft

Stephen C. Groft

National Center for Advancing Translational Sciences

Global Overview of the Rare Disease field

09:00 on Thursday, 20 October

Chris Hendriksz

Chris Hendriksz

Salford Royal NHS Foundation Trust

Rare disease transition and your best chance of getting it right

10:15 on Wednesday, 19 October

Engela Honey

Engela Honey

University of Pretoria

Rare Disease Diagnosis: The importance of a diagnosis in genetic counselling and management

13:30 on Wednesday, 19 October

Gary Kantor

Gary Kantor

University of Cape Town

Panel Discussion: Newborn Screening

15:30 on Wednesday, 19 October

Petra Kaufmann

Petra Kaufmann

National Institutes of Health

Catalysing progress: from discovery to health benefits through research collaboration

13:30 on Friday, 21 October

Narcisse Kimbassa

Narcisse Kimbassa

Western Cape Albinism Hypo-Pigment Foundation

Albinism: the stigma and what can be done

08:30 on Saturday, 22 October

Vuyiswa Lebese

Vuyiswa Lebese

National Department of Health South Africa

Surveillance and monitoring of CDs and patient registries in South Africa

09:00 on Wednesday, 19 October

Janine Lewis

Janine Lewis

Genetic and Rare Diseases Information Center (GARD)

A program of the National Center for Advancing Translational Sciences: The Genetic and Rare Diseases Information Center (GARD): 13 years of providing access to genetic and rare diseases information

10:30 on Saturday, 22 October

Roan Louw

Roan Louw

North-West University

The search for biomarkers in Mitochondrial disease: lessons learned from urine metabolomics investigations

13:30 on Wednesday, 19 October

Helen Malherbe

Helen Malherbe

Genetic Alliance South Africa

Congenital Disorders in South Africa

15:30 Thursday, 20 October

Claudia McGregor

Claudia McGregor

The Children’s Therapy Centre

Feeding Matters: Creating a seamless timeline from birth

10:15 on Wednesday, 19 October

Helen Malherbe

Michelle Meiring

Paedspal Cape Town

The role of palliative care in rare diseases

13:30 on Wednesday, 19 October

Surita Meldau

Surita Meldau

University of Cape Town

Common inherited metabolic conditions in South Africa – diagnosing “rare” disease in genetically unique and understudied population groups

13:15 on Thursday, 20 October

Christine Mutena

Christine Mutena

Stepping Stones Kenya

Stepping Stones Kenya: what they do

10:30 on Saturday, 22 October

Ann Nordgren

Ann Nordgren

Karolinska University Hospital

Genetic mechanisms behind congenital malformations and intellectual disabilities

15:30 on Thursday, 20 October

Rudy Onia

Rudy Onia

GlaxoSmithKline

GSK’s graduated approach to patents and intellectual property to widen access to medicines in the world’s poorest countries

11:00 on Friday, 21 October

Rajesh Patel

Rajesh Patel

Board of Healthcare Funders of Southern Africa

National Health Insurance (NHI) developments and rare diseases

15:30 on Wednesday, 19 October

Melissa Platt

Melissa Platt

Quality of life from a parent’s perspective: Sam’s story

08:30 on Saturday, 22 October

Raj Ramesar

Raj Ramesar

University of Cape Town

Applications to rare diseases from the H3 Africa Research Project

13:45 on Friday, 21 October

Inge Retief

Inge Retief

Inge Retief & Associates

Session: Feeding Support – a multidisciplinary approach (title to be confirmed)

10:15 on Wednesday, 19 October

Eda Selebatso

Eda Selebatso

Botswana Organisation for Rare Diseases (BORDIS)

Botswana Organisation for Rare Diseases – what it is all about

10:30 on Saturday, 22 October

Izelle Smuts

Izelle Smuts

University of Pretoria

Overview on Mitochondrial disease

09:00 on Wednesday, 19 October

Maja Stojiljkovic

Maja Stojiljkovic

University of Belgrade

In vitro assays for characterization of novel rare genetic variants

13:45 on Friday, 21 October

Cynthia J. Tifft

Cynthia J. Tifft

National Institutes of Health (NIH)

The NIH Undiagnosed Network

13:15 on Thursday, 20 October

Francois van der Westhuizen

Francois van der Westhuizen

North-West University

Current diagnostic possibilities in South Africa (Mitochondrial Disease)

09:00 on Wednesday, 19 October

Tracey Venter

Tracey Venter

The Children’s Therapy Centre

Powerful implications of sensory development

10:15 on Wednesday, 19 October

Chris Vorster

Chris Vorster

The Potchefstroom Laboratory for Inborn Errors of Metabolism

Newborn screening and status in South Africa

13:15 on Thursday, 20 October

Alain Weill

Alain Weill

World Federation of Hemophilia

Close the Gap Programme

11:00 on Friday, 21 October

Anthony Westwood

Anthony Westwood

Western Cape Department of Health

Developing an essential package of health care for children in South Africa: what should be in the box?

15:30 on Wednesday, 19 October

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