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Topic: Newborn Screening II - Policy, Ethics and Patient Perspectives
Prof. David A Pearce
Department of Pediatrics,
Sanford School of Medicine,
University of South Dakota,
Sioux Falls, SD, United States.
Dr. Helen Malherbe
Rare Diseases South Africa,
Johannesburg, South Africa.
Dr. Helen Malherbe
Rare Diseases South Africa,
Johannesburg, South Africa.
Research in the Pearce Lab focuses on understanding the molecular basis
of several inherited pediatric neuro-degenerative diseases, including the
infantile, late infantile and juvenile onset forms of Batten disease.
Dr. Pearce and his team use mouse and miniature pig models of these rare,
fatal diseases to reveal molecular and cellular pathomechanisms, to identify
new therapeutic targets and to test new therapeutic approaches.
Dr. Malherbe is a director of Rare Diseases South Africa (RDSA) and
heads up the research and epidemiology portfolio there. She completed 4
years of postdoctoral research at the University of KwaZulu-Natal, Durban,
South Africa, following on from her 2017 Ph.D. on the renewed need for
the care and prevention of congenital disorders. She won RDSA’s Rare
Diamond in Advocacy award in 2018 and continues to focus on building
an evidence base to inform advocacy for improved genetic services in the
country. To date, her research has focused on quantifying the burden of
disease represented by rare diseases and congenital disorders, and this will
extend to an economic evaluation of genetic services at a new academic
institution later in 2021. She supervises both Ph.D. and Master’s students
and continues to expand her portfolio in the peer-reviewed literature. Dr.
Malherbe is an active member of relevant international and local bodies,
including key World Health Organization panels and committees and the
South African Department of Health Human Genetics Technical Working
Group. She became part of the rare disease community in 2004 after the
loss of her first child to Trisomy 18 (Edwards syndrome), establishing a
contact point for families affected by the same condition.
Dr. Mary Wang is Programme Director at Rare Diseases International (RDI)
where she is leading initiatives on access to diagnosis and essential therapies,
and oversees RDI’s collaboration with the World Health Organization.
Mary has 17 years of experience in biomedical research, funding,
infrastructure, and policy in rare diseases. Prior to joining RDI, Mary
worked at Fondazione Telethon Italy and managed international activities,
advocated for research in global consortia including the International Rare
Diseases Research Consortium (IRDiRC) and in the executive committee
of International Consortium for Personalised Medicine (ICPerMed). Mary
worked on European Commission funded projects (EJP RD, RD-Connect),
leading on creation of rare disease biobank network, flagship tools for data-
sharing, training for scientists and patients. At Telethon she also supported
establishment of multi-million funding programmes, managed peer-review
of research grants on inherited immunological and blood disorders. Mary
received her PhD from University College London, UK.