Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Disorders of Erythrocytes01:27

Disorders of Erythrocytes

2.8K
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
2.8K
Prescription, Nonprescription and Orphan Drugs01:02

Prescription, Nonprescription and Orphan Drugs

1.4K
Prescription drugs require a prescription from a medical practitioner and can only be obtained from a pharmacy. They have many applications, including treating pain, anxiety, and hypertension.
The misuse and addiction to prescription drugs is a growing problem that can affect people of all age groups, specifically teenagers. This can happen when prescription medications are used in ways not intended by the prescriber, such as taking someone else's prescription or using medication for...
1.4K
Translation01:31

Translation

22.2K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
22.2K
Translation01:31

Translation

160.2K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
160.2K
Sex-linked Disorders01:43

Sex-linked Disorders

111.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
111.2K
Alternative RNA Splicing02:18

Alternative RNA Splicing

26.4K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
26.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Healthcare system complexity of hepatitis B and C related liver disease: service mapping in New South Wales, Australia.

Frontiers in health services·2026
Same author

Impacts of hepatitis B and C prevention programmes on long-term outcomes of advanced liver disease and hepatocellular carcinoma: A systematic review.

Public health·2026
Same author

Health Service Leaders' Perspectives on Type 1 Diabetes Models of Care for Children and Young Adults in Australia: A Mixed-Methods Study.

Journal of diabetes research·2026
Same author

Low-Dose Versus High-Dose Methylprednisolone and Impact on Duration of Noninvasive Bilevel Positive Airway Pressure in Pediatric Severe Asthma Exacerbations.

The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG·2026
Same author

Mitigating healthcare's contributions to climate change: the pivotal role of effective leadership and governance.

BMJ leader·2026
Same author

Integrating evidence-based paediatric asthma management in Australian primary care: phase I protocol for developing implementation bundles.

Frontiers in health services·2026

Related Experiment Video

Updated: Mar 31, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K

Rare diseases are a 'common' problem for clinicians.

Elizabeth Elliott1, Yvonne Zurynski

  • 1MD, MPhil, FRACP, FRCPCH, FRCP, is Professor of Paediatrics and Child Health, The University of Sydney; consultant paediatrician, The Children's Hospital at Westmead, Sydney and Director, Australian Paediatric Surveillance Unit.

Australian Family Physician
|October 22, 2015
PubMed
Summary

Rare diseases affect 8% of Australians, causing diagnostic delays and hardship. General practitioners (GPs) play a vital role in care coordination and referrals for these patients.

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K

Related Experiment Videos

Last Updated: Mar 31, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K

Area of Science:

  • Medical Research
  • Public Health
  • Genetics

Background:

  • Approximately 8% of Australians live with one of ~10,000 rare diseases, a prevalence similar to diabetes or asthma.
  • Rare diseases represent a significant, yet often overlooked, public health challenge in Australia.

Purpose of the Study:

  • To review the impact of rare diseases on Australian families and healthcare services.
  • To examine the role of general practitioners (GPs) in managing rare diseases.
  • To assess the current policy response and identify needs for a coordinated national approach.

Main Methods:

  • Literature review of research on rare diseases in Australia.
  • Analysis of challenges faced by patients and families.
  • Examination of the GP's role in diagnosis, referral, and care coordination.

Main Results:

  • People with rare diseases experience diagnostic delays, limited treatment options, and difficulties accessing appropriate healthcare.
  • Families report isolation, inadequate support, and financial strain.
  • GPs are crucial for referrals, care coordination, and family support, but require better resources.

Conclusions:

  • A coordinated national strategy is essential to address the multifaceted challenges of rare diseases in Australia.
  • Enhanced resources and support for GPs are critical to improve patient outcomes.
  • Addressing the needs of families and improving access to care are key priorities.