People with rare cancers can benefit from genomic profiling

New research has shown that many Australians with rare cancers can benefit from genomic profiling. The findings of the patient-driven trial are being presented today at the Clinical Oncology Society of Australia Annual Scientific Meeting and could result in dramatic changes to the way those with rare cancers are diagnosed and treated. 

The initial data from the pilot study for Nominator Trial is being presented by Professor Clare Scott from the Walter and Eliza Hall Institute of Medical Research and Peter MacCallum Cancer Centre, and was funded in part by Rare Cancers Australia. 

The data shows that genomic profiling provides meaningful information that influences diagnosis and treatment in approximately 50 percent of people with rare cancers. 20 percent of those tested got a new treatment plan as a result and 6 percent of participants were given a new diagnosis. 

The aim of the national initiative is to trial the use of genomic testing to match rare cancers to cancer treatments. Testing is used to identify molecular features of the cancer or genetic mutations that can be targeted with existing treatments used in other cancer types with the same characteristics.

While genomic testing is becoming increasingly used in other cancer types, this is one of the first Australian studies of its kind to look at the potential benefits for those with rare cancers, which have very low survival rates.

Professor Clare Scott says the initial pilot data is exciting and proves that there is a current unmet need."The treatment options for Australians with rare cancers are currently extremely limited and this ultimately leads to poor survival rates. Research has also typically been restricted because of the challenges of finding enough of each type of cancer patient to design appropriate clinical trials."Australians in this trial came to us after they had exhausted all their options. The cancers they had are extremely rare - the chances of being diagnosed with these cancer types are often around one in a million."Using genomic profiling we were able to uncover new information that gave many patients new treatment options - and ultimately, new hope."

Professor Scott says."In one case we were able to identify that a rare heart tumour actually had a genetic profile most closely resembling a melanoma. Using that information we were able to get access to the latest treatments that are benefiting melanoma patients - which we hope will provide better outcomes for this patient."

The Nominator Pilot Study results released today included 36 patients. The two-year study will eventually include 100 patients and will lay the groundwork for other national initiatives looking into genomic profiling across a range of cancer types. Professor Phyllis Butow, President, Clinical Oncology Society of Australia said one of the impressive things about the study was that it was driven by Australians directly affected by rare cancers.

"Around 52,000 Australians are diagnosed with rare or less common cancers each year. Those directly affected by the disease, led by Kate and Richard Vines from Rare Cancers Australia, helped call for and fund this research, so it's great to see these initial promising results being presented to cancer experts from across the country." 

We welcome researchers from different part of the to submit abstract on their latest research at our upcoming conference Cell Tissue Science 2019 which is mainly focuses on the complications the consequences of Stem Cell, Regenerative Medicine, Stem Cell Therapy, Cancer Cell Biology , Technical Advancements in cancer treatmentand many more.We welcome you to the our upcoming conference “ 12th World Congress on Cell & Tissue Science” .  You can submit your abstract on Session or Track :08- Advancement in Cancer Treatments

Mitochondrial DNA may have strong influence on cellular metabolism and disease susceptibility

About 1.5 billion years ago, tiny visitors came to live inside the cells that later evolved into all plant and animal life including humans.

Those visitors were mitochondria, small organelles whose prominent role is producing 90 percent of the chemical energy cells need to survive. Evolutionarily speaking, humans, animals and plants are thus a combination of two organisms.

Mitochondria have their own DNA, but the 13 genes in human mitochondria along with DNA sequences for tRNAs, rRNAs and some small peptides are massively overshadowed by the 20,000 genes in the human nucleus. Nevertheless, these diminutive mitochondria may have a strong influence on cellular metabolism and susceptibility to metabolic diseases like heart failure or obesity, according to preliminary research by Scott Ballinger, Ph.D., professor of pathology at the University of Alabama at Birmingham.

"For 50 years, researchers have tried to find disease susceptibility using Mendelian genetics," Ballinger said while speaking about studies of the chromosomal genes in the cell nucleus. "But this explains only 10 percent of the reasons for susceptibility to disease."

The possible impact of mitochondrial DNA on disease susceptibility depends on two facts. First, all of a person's mitochondrial DNA comes from the mother, via her egg. This is distinct from the chromosomal genes in the nucleus, where, on average, half come from the mother and half from the father. Second, human mitochondrial DNA has evolved into distinct haplotypes, and each of these types has mitochondrial DNA variations that are inherited together. There are approximately 25 to 35 basic mitochondrial DNA haplogroups, and one of them is found in African populations and has many subtypes due the deep genetic diversity of that continent.

To investigate the impact of mitochondrial DNA, Ballinger and colleagues looked for changes in metabolism and nuclear gene expression when they exchanged mitochondrial backgrounds of strains of mice -- specifically those having different mitochondrial DNA sequences, and also having notable differences in susceptibility to diseases associated with metabolism.

After switching the mitochondrial DNA backgrounds, Ballinger and colleagues measured changes in body composition, metabolism and nuclear gene expression in fat tissue when mice switched from a low-fat chow diet to a high-fat diet.  

In the first report of its kind, they found that switching the mitochondrial genetic background had a significant impact on adiposity, whole body metabolism and nuclear gene expression in mice.

For example, gene expression in both visceral and subcutaneous fat was markedly changed between mice sharing the same nuclear genome but having different mitochondrial DNA backgrounds, when fed chow versus a high-fat diet. These changes ranged from 10- to 50-fold differences in the number of genes affected, and mitochondrial DNA background influenced whether the number of affected genes were increased or decreased. These studies also found that metabolic efficiency and percentage of body fat in the mice were impacted as well.

"These results are clearly consistent with the notion that different nuclear-mitochondrial genetic combinations influence metabolism, adiposity and gene expression in different ways," Ballinger said. "The overall implication of this work is that it can provide a new framework for understanding complex genetic disease susceptibility that both an individual's nuclear and mitochondrial genomes, in combination, can affect disease development. We are now trying to understand how the different combinations of nuclear and mitochondrial encoded genes interact to alter metabolism, and how this influences individual disease susceptibility."

We welcome researchers from different part of the to submit abstract on their latest research at our upcoming conference Cell Tissue Science 2019 which is mainly focuses on the complications the consequences of Stem Cell, Regenerative Medicine, Stem Cell Therapy, Cancer Cell Biology , Technical Advancements in cancer treatment and many more.We welcome you to the our upcoming conference “ 12th World Congress on Cell & Tissue Science” . 

You can submit your abstract on Session or Track :12.Epigenetics and Epigenome