Practical Medical Genomics

Presenters

Dr Elizabeth Emma Palmer
FRACP, PhD, MBBS, BA, AFHEA | UNSW Medicine & Health

Dr Emma Palmer is a clinical academic working as a Clinical Geneticist at Sydney Children’s Hospital Network (SCHN), Randwick, and Lecturer at the University of New South Wales. Through her collaborative research several novel causes of intellectual disability and epilepsy have been delineated including ZSWIM6, ARV1, KCNT2 and, ATN1-related encephalopathy.

She is leading research to understand how best to support families of children with severe monogenic conditions and adults with learning disability around genomic testing, and to develop a rare genetic disorder program for SCHN. Emma has extensive teaching experience at both the pre and post graduate level and has developed resources on genomic education for clinicians and patients as part of national and international collaborations.

Dr Emily Oates
FRACP, PhD, MBBS, BMedSc | UNSW Medicine & Health

Dr Emily Oates is a Clinical Geneticist, an honorary Sydney Children’s Hospital Network staff specialist and an NHMRC Research Fellow. In late 2017 she returned from the United Kingdom to continue her neuromuscular-focused clinical work, to take up a position as a senior lecturer in medical genomics, and to set up her own research group at UNSW.

Dr Oates played a central role in the discovery and clinical characterisation of two newly emerged disorders: BICD2-spinal muscular atrophy and SCN4A-myopathy. She also has world leading expertise in the diagnosis and management of recessive titinopathy; one of the most common causes of early-onset muscle disease.

She and her growing research team remain actively involved in disease gene discovery-based research, and in projects aimed at harnessing cutting edge RNA sequencing technologies to expand our understanding of normal muscle isoform biology and disease pathogenesis, and to improve genetic diagnosis rates. In addition, her team has a growing interest in the development of antisense oligonucleotide-based exon skipping therapies. 

Who is this course suited to?

Health and science professionals who are interested in learning more about genomics. This applies to both people who are currently applying genomics in their practice, as well as those who are interested in applying genomics in the future. Participants may include paediatricians, medical specialists, registrars, other doctors-in-training, allied health professionals, nurses, researchers and laboratory scientists.

Online synchronous sessions (via Zoom)

• Welcome session: 16 September 2024 | 6:00 pm - 7:00 pm AEST
• Zoom session 1 (Compulsory attendance): 19 October 2024 | 9:00 am - 4:30 pm AEST
• Zoom session 2 (Compulsory attendance): 2 November 2024 | 9:00 am - 1:00 pm AEST 

What are the course learning outcomes?

By the end of this course, you will be able to:

• Identify when to consider genetic and/or genomic testing to achieve the best healthcare outcomes.
• Interpret genetic/genomic test result reports.
• Integrate understanding of genetic and genomic concepts into best practice when communicating with peers and patients pre-and post-testing, including when obtaining informed consent for testing and discussing genetic/genomic test results.
• Develop evidence-based care plans that are patient and family-centred, appropriately involving patient support groups and interdisciplinary teams.

What core topics are offered?

The following topics are offered in the course for developing and increasing your knowledge, understanding and skills in practical medical genomics:

• Introduction to genomic medicine
• Models of genomic care
• Culturally safe genomic practice
• When to consider genomic testing
• Pre- and post-test genetic counselling
• Process of genomic testing
• Interpretation of results
• Moving from a genomic diagnosis to precision medicine

What are the course credentials?