Category Archives: Genetic Medicine

Imagine ten jigsaw puzzles, each with 150 million pieces, jumbled together in a huge box.

The jigsaws are all double-sided, with a different picture on each side. The images on them are bland and one in 100 pieces has the wrong picture.

Despite all of this, you have just two days to complete the puzzles.

Tricky enough for you?

This is essentially what scientists face figuratively speaking each time they sequence a human genome. When they do solve the puzzle, just four of the pieces hold the key information they need.

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It is an incredibly difficult and precise science, but mapping the human genome is revolutionising medicine, and researchers hope that it will help them to turn cancer into a manageable chronic disease like diabetes.

Until relatively recently, this sort of thing was a pipe dream.

The game changed significantly, however, when scientists announced that they had mapped the human genome in 2003. Since then, many others around the world have explored ways to use this ground-breaking information.

The potential for using an individuals genetic information to personalise their medical treatment is enormous. But what exactly is the human genome and how do you sequence it?

The genome is an organisms entire chemical blueprint. It is held as DNA in all cells with a nucleus and scientists are increasingly focusing on sequencing, or reading, genomes to understand the genetic functioning and causes of disease.

The human genome contains about three billion base chemical pairs, making it extremely difficult to read accurately. But that hasnt stopped University of Melbourne researchers from using the technology to help cancer patients and those at risk of developing it.

The information is already being used to better understand why a person is at risk or to pinpoint how each patient should be treated. Well-targeted treatments increase the chances of success and reduce the chances of failure and/or debilitating side effects.

Professor Sean Grimmond, the Bertalli Chair in Cancer Medicine at the University of Melbournes Centre for Cancer Research (UMCCR), is focusing on rare and challenging cancers, such as pancreatic cancer.

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People with pancreatic cancer have a five-year survival rate of less than 10 per cent.

The UMCCR is focusing on cancers of unmet need. These are the most challenging to treat cases, including rare or aggressive tumours, those resistant to standard therapies, or those that are traditionally difficult to diagnose.

When Professor Grimmonds team sequenced the genome of its first Australian cancer patient nine years ago, it took more than six months and cost about $A1 million.

Using new NovaSeq 6000 machines and the latest computer technology, it now costs the same as an MRI scan.

The science is cutting edge, but if youre picturing space-age shiny metals, rows of glowing buttons or laser lights then think again.

The Illumina NovaSeq machines that could save many lives resemble large, sleek photocopiers, with cartridges of reagents instead of ink to facilitate the sequencing process.

They live in the Victorian Comprehensive Cancer Centre, a building bringing together those at the forefront of world cancer research and treatment. Operated by the UMCCR, each machine has the capacity to sequence 50 human genomes in less than two days.

So, how do they do it?

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Sequencing a cancer patients genome essentially produces a genetic blueprint of their tumour. Initially, scientists take a tiny sample of the cancer, extract the DNA and process it before compressing it onto a slide.

The slide is fed into the sequencing machine, which produces terabytes of data that can only be decoded in pieces that are up to 150 bits long.

Scientists take those pieces and smash them into random bits to create a complex map that can be decoded. Hence, the jigsaw analogy.

Before you start, you draw lines between the pieces and come back to use those clues, Professor Grimmond explains. Its computationally very difficult. We can think of those bits as a computer hard drive your DNA is like a three-gig hard drive.

As well as mapping individual genomes, Professor Grimmond wants to build up enough combined data to establish patterns that will further advance treatment. Drug trials could also be personalised by pinpointing which trial drug a patient is better suited to.

Over the next three years, more than 1,000 Victorians with rare and challenging cancers are set to benefit from genomic testing through an initiative led by Professor Grimmond.

The Cancer of Unmet Need Initiative is piloting real-time testing of our most challenging cancer cases, integrating patients genomic data into routine clinical decision-making for a truly personalised approach to treatment and care, Professor Grimmond says.

The $A6 million initiative is the first flagship project of a partnership announced in 2019 by University of Melbourne and Illumina, one of the worlds leading biotech companies.

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While the overall outlook for people with cancer has almost doubled in recent decades, this initiative is targets those classes of cancers that have not seen these improved outcomes.

Its providing these patients with rapid diagnositics and a gateway to better cancer care and targeted clinical trials.

Professor Grimmond and his team are already sequencing patients as part of the Victorian Comprehensive Cancer Centres (VCCC) Precision Oncology program.

The ultimate goal is for precision oncology to turn cancer into a manageable chronic disease, as well as minimising treatment failure and side effects.

For example, if a drug has an 80 per cent success rate but sequencing suggested you were one of the 20 per cent of patients that it would not work on, your doctor could direct you to another more suitable treatment.

We want to take the guesswork out of therapy, Professor Grimmond says.

Ultimately, we want to help those at the forgotten fringes of cancer care on an individual level, to improve equity of patient outcomes.

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The genomic jigsaw of cancer - Pursuit

Cancer Council has awarded its annual $3.75 million Translational Program Grant to a research team led by Professor Anna deFazio from the University of Sydney, exploring how to better personalise ovarian cancer treatment for Australian women.

Professor Anna deFazio and her team will spend the next five years creating a process by which ovarian cancer patients can have their cancer comprehensively analysed to determine its molecular profile. If standard treatments are not effective, patients can be matched with an appropriate clinical trial, based on the individual characteristics of their tumour.

This will improve treatment outcomes by ensuring that treatment approaches offered to an ovarian cancer patient are those with the highest likelihood of being successful for their specific subtype of the disease.

Professor deFazio, who is the Sydney West Chair in Translational Cancer Research and co-director of the Centre for Cancer Research at the Westmead Institute for Medical Research (WIMR), is hopeful that this research will transform the way women with ovarian cancer are treated.

Many people dont know that ovarian cancer has the lowest survival rate of any womens cancer in Australia, said Professor deFazio, from the University of Sydney School of Medicine in the Faculty of Medicine and Health.

Currently, only around 45 percent of ovarian cancer patients will survive for five years. Unlike many other cancers, these survival odds have only slightly improved in the last two decades one of the main reasons for this is that each ovarian cancer differs significantly in its genetic and molecular make-up, which results in widely varied treatment outcomes.

Encouragingly, the last few years have seen a rapid expansion in the number and variety of targeted cancer treatment options."

We will work to provide the missing link in this treatment path, generating the data and processes to match patients with the ideal treatment for their cancer type, said Professor deFazio.

The University of Sydney-led team has assembled an expert team of researchers and clinicians to make this happen, including from WIMR, The Crown Princess Mary Cancer Centre, Westmead Hospital, the Prince of Wales Hospital, Royal Hospital for Women, Royal North Shore Hospital, Royal Prince Alfred Hospital, Chris OBrien Lifehouse, the University of Technology Sydney, the Childrens Medical Research Institute, and from interstate, the Peter MacCallum Cancer Centre, and overseas, from the National Cancer Institute in the United States.

To reach their goal, Professor deFazios team will analyse the molecular profile of more than 300 ovarian cancer patients in NSW to better understand the subsets of ovarian cancer and how each type responds to specific treatments. The team will also look at ways of more simply communicating complex molecular test results to the treating clinical team, so they are easier to interpret.

Finally, Professor deFazios team will use patient samples to print 3D models of ovarian tumours to test treatment approaches and help design new early phase clinical trials.

Professor Karen Canfell, Director of Research at Cancer Council NSW, is proud the organisation was able to fund such innovative research: We only award our Translational Program Grant to cancer research that will rapidly translate research discoveries into clinical practice and policy, she said.

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$3.75m awarded to transform the way ovarian cancer is treated - News - The University of Sydney

A doctor and cancer expert at Weill Cornell Medicine Qatar celebrated National Sport Day by running non-stop for 24 hours.Dr Arash Rafii-Tabrizi, professor of genetic medicine in obstetrics and gynaecology, took on the gruelling challenge to raise awareness of the benefits of running and healthy lifestyles in general.Supported by Sahtak Awalan Your Health First, WCM-Qs public health campaign, Dr Tabrizi set off from the Green Spine at Qatar Foundation at 4pm on Monday, finishing at the same spot at 4pm yesterday, having repeatedly run a lengthy route around Education City. He estimated that he ran around 140km.Dr Tabrizi, who is an experienced ultra-runner, said, Running for this distance and this length of time is never easy, but the course is flat and Ive had a lot of support from the community which has been great.My primary motivation, though, has been to highlight the amazing journey over the last 25 years of Qatar Foundation; a project that is unique in the Middle East.The ideology and goals of QF, have been transformative and have made education a priority, putting it at the forefront of the nations development. In this context, National Sport Day is a logical evolution of this, providing a bridge between body and mind. So, the fact that the community joined in the run, despite its difficulties, really demonstrates the positive impact that Qatar Foundation has had on the psyche of the nation.No stranger to ultra-marathons, Dr Tabrizi has completed around a dozen of the extreme races. In 2012 he completed the 119km Ultra-Trail Mont du Blanc race that follows a mountainous route through France, Italy and Switzerland. In 2014, he completed a 360km ultra-marathon around Qatar to raise awareness of womens cancer issues, and in 2018 he finished the 330km Tour de Geants through the Italian Alps, which saw him run for a total of 120 hours, finally finishing 165th out of 850 and having snatched just 12 hours sleep over five days.For the 24-hour Run 4 Your Health challenge around Education City, Dr Tabrizi was supported by a number of other runners and members of the public, who each joined him for a short time.Another experienced ultra-runner, Mohamed Allam, ran the entire course with him. Allam explained, For me, the most important aspect of this event has been to highlight the health benefits of running. The cardiovascular benefits are obvious, but it also helps strengthen the joints, improves bone mass and improves your mental health.

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WCM-Q doctor runs more than 100km to mark occasion READ MORE - Gulf Times

Atlantic Health System Cancer Care is dedicated to providing patients with access to the most promising and life-saving trials, research, and innovations in the communities where they live and work. Cutting-edge initiatives include the following:

In affiliation with the Translational Genomics Research Institute (TGen) of Phoenix, AZ, Atlantic Health System Cancer Care has created the nations firstBreakthrough Oncology Accelerator, a pioneering research and clinical collaboration that offers multiple early and late-phase clinical trials, right here in New Jersey. The Accelerator is designed to improve patient access to life-saving therapies through more rapid deployment of new research trials and novel payment mechanisms post-approval, saidEric Whitman, MD, medical director of Atlantic Health System Cancer Care.

The Breakthrough Treatment Center is part of the Breakthrough Oncology Accelerator and offers phase 1 clinical trials using the latest immunotherapies, cell-based therapies and genetic medicine options to cancer patients who have not responded to other treatments. The Center typically accommodates eight to 14 patients daily.

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We treat all patients with advanced cancers and use all kinds of treatment, saidDr. Angela Alistar, medical director of the Breakthrough Treatment Center who came to Morristown Medical Center from Wake Forest University a few years ago. She is widely known for her pioneeringresearch on pancreatic cancer, which has doubled the patient survival rate.

As a physician, I always look for early-phase studies because I know what standard of care can do. Unless I have a curative standard of care treatment, Im not interested. I want to do better. I want to find a clinical trial that combines standard of care with something exciting that has promise. Im always looking for, How can we do better? Thats what this Center is about: Not waiting until the last minute, but giving our patients the best options up front.

Atlantic Health System Cancer Care is also the lead affiliate ofAtlantic Health Cancer Consortium (AHCC), the only New Jersey-based Community Oncology Research Program (NCORP) designated by the National Cancer Institute (NCI). Covering 73% of the states population, the AHCC NCORP presents a substantial opportunity to advance scientific understanding of cancer prevention, screening, control, treatment and care delivery research within a large and diverse population, saidMissak Haigentz, MD, medical director of Hematology and Oncology for Atlantic Health System and principal investigator for AHCC NCORP.

To learn more about Atlantic Health System cancer research trials, please go toatlantichealth.org/research

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Accelerating Access to Breakthrough Cancer Therapies - TAPinto.net

February 10, 2020 -A team of scientists from Purdue University and other research institutions around the world leveraged data mining techniques to better understand trends in the gene therapy field in respect to nonviral vectors.

With the global gene therapy market expected to reach $13 billion by 2024, researchers are seeking to understand as much as they can about how these treatment can target cancer and other diseases.

Purdue scientists joined forced with researchers from around the globe to learn more about the increasing number of worldwide patented innovations available for gene therapy treatment. The team focused specifically on nonviral methods, which use synthetic or natural compounds or physical forces to deliver materials that are generally less toxic than their viral counterparts into therapy treatments.

The possibility of using nonviral vectors for gene therapy represents one of the most interesting and intriguing fields of gene therapy research,said Marxa Figueiredo, an associate professor of basic medical sciencesin PurduesCollege of Veterinary Medicine, who helped lead the research team and works with thePurdue Research Foundation Office of Technology Commercializationto patent her technologies related to health.

This is an innovative method for identifying the technological routes used by universities and companies across the world and uncovering emerging trends for different gene therapy sectors.

Scientists mined patient and clinical data to identify technological trends for the gene therapy field. The team expects that their analysis can help guide future developments for gene therapy.

This work brought together investigators from very diverse disciplines to create a different perspective of the gene therapy field, Figueiredo said. Our groups continue to work individually or in collaboration to generate and patent new vectors to help fill the needs of this re-emerging field of nonviral gene therapy.

Gene therapy has emerged as a promising way to treat complex conditions like cancer or Alzheimers. In January 2020, Maximum Life Foundation (MaxLife), a non-profit organization focused on aging research, announced that it would offer free gene therapy for ten patients with Alzheimers disease.

MaxLife will grant 100 percent of the therapy costs to help bring pioneering gene therapy to cure this disease and make Alzheimers disease a thing of the past, said David Kekich, MaxLifes CEO.

This technology could halt many of the big age-associated killers in industrialized countries, said Kekich. Compassionate care helps patients with no other option to get access to experimental therapies that may benefit both themselves and society as a whole.

Researchers have also shown that genetic therapies have the potential to reduce the risk of diabetes development. A team from Massachusetts General Hospital (MGH) recently found that interventions focused on individuals genetic profiles can help reduce the risk of type 2 diabetes in susceptible patients.

The positive association between polygenic scores and type 2 diabetes we reported acknowledges the fact that people at higher genetic risk could benefit from additional strategies that have nothing to do with dietary fat intake, said Jordi Merino, RD, PhD, of the MGH Diabetes Unit and Center for Genomic Medicine, and corresponding author of the study published online in theBMJ.

Our meta-analysis shows on a scale never done before that there is no apparent need to be concerned about the genetic risk to inform sound dietary recommendations for individuals with type 2 diabetes. This means that lifestyle or dietary interventions for the prevention of type 2 diabetes can be deployed across all gradients of genetic risk since genetic burden does not seem to impede their effectiveness.

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Data Mining Techniques Could Improve Cancer Gene Therapies - HealthITAnalytics.com

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Prolon provides dieters with bars, soups, drinks, and supplements said to deliver the benefits of intermittent fasting byusing ingredients that "are not recognized as food by your body," according to its website.

Intermittent fasting of any kind has promising health benefits, including potentially slowing aging and diseases like cancer and diabetes.

But more research is needed before experts can be sure it's beneficial, or even not harmful, long term. Plus, it's unsafe for certain populations, like people at risk for eating disorders.

Dr. Caroline Apovian, professor of medicine in endocrinology, diabetes, nutrition and weight management at Boston University School of Medicine, previously told Insider that the only studies done on fasting diets have been small.

"We are getting insight into early time restricted eating but there is no solid research there yet it may be that a period of fasting during night hours is good for your metabolism but studies are still coming," Apovian said.

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Oscars 2020: The science behind the wellness swag in nominee gift bags - Insider - INSIDER