Under the microscope - Children's Medical Research Institute
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FROM THE DIRECTOR • MEET A SCIENTIST • CANCER DISCOVERY • JEANS FOR GENES • VIRTUAL GALA
Under the
microscope
NEWS FROM INSIDE THE INSTITUTE FOR OUR SUPPORTERS WINTER EDITION 2020
Thank you to our wonderful supporters who recently donated to our
appeal for Professor Tracy Bryan’s research on Bone Marrow Failure
Disorders.
Professor Bryan and her team are tackling bone marrow failure syndromes
with a two-pronged strategy: Molecular Diagnosis and Therapy.
Recent advances in a technology called gene editing raises the exciting
possibility that corrective gene therapy is possible for patients with
telomere-related bone marrow syndromes and other diseases. The team
is working to create and test methods for correcting these telomere
problems, to tackle bone marrow failure and cancers.
Your support is helping us advance our research to find answers and
provide hope to families in Australia and around the world facing the
enormous challenge of looking after a child suffering from a bone marrow
failure disorder.
Thank you for supporting this important area of research. Professor Tracy Bryan
Finding cures for
children’s genetic diseases
Professor Tracy Bryan and team
CMRI researcher, Dr Scott
Cohen, has shown that a new
molecule can stop cancer
cells growing indefinitely. He
says this is a great example
of international collaboration
advancing scientific research.
Research Update
From the Director
Research could improve cancer
As the global pandemic continues, CMRI is
doing all that we can to help the Australian treatments for children
community and healthcare system. That
includes continuing our research, while
keeping our staff safe. As a consequence,
we have many research and community
updates for you in this Winter Edition of
Under the Microscope. In addition, it is a
great pleasure to welcome Robert Wynn,
our new Director of Fundraising, to the
CMRI team.
Now that some aspects of everyday life are
returning toward a new normal, we all have
a new perspective.
Over the past months, many of us have
experienced some social isolation, and
maybe also some fear of the unknown — Professor Tracy Bryan
and anxiety about things we once took for
granted, including gathering with family CMRI researchers have published a study in the journal Leukemia, on
and friends. These experiences sadly are all a pathway to better treatment outcomes for children with devastating
too familiar to many children with cancer forms of blood cancer.
or genetic diseases with compromised New research from the laboratory of Professor Tracy Bryan, Head
immune systems. The world waits for a of the Cell Biology Unit at CMRI, has found for the first time that
vaccine for COVID-19 – but for children with children with some forms of leukaemia have a high chance of carrying
genetic diseases and their families, the wait mutations in genes that impact chromosome ends—and that testing
will continue until cures are found for their could prevent them experiencing toxic side-effects from their
conditions. treatment.
We hope you will consider this in showing Professor Bryan was contacted by two haematologists, Dr Alison
your support through Jeans for Genes if Bertuch and Dr Monica Gramatges, at Texas Children’s Hospital in the
you can. We are launching the campaign US because she is one of the world’s leading experts on the molecule,
much later than usual, and adapting to the telomerase.
changed circumstances, but the underlying
need to find treatments and cures for the Telomeres are the protective tips at the ends of our DNA. When they
1 in 20 children (12 born worldwide every are damaged or shortened, this can lead to cancer. Telomerase is a
minute) with a birth defect or genetic molecule in cells that normally protects telomeres from this shortening.
disease remains unchanged. They need our “The US team had sequenced the genomes of 94 children at their
help. Thank you for doing whatever you hospital who had presented with Acute Myeloid Leukemia (AML) which
can during these challenging times. Your is a blood cancer, or Myelodysplastic Syndrome (MDS), and had found
support is greatly appreciated and will have a higher-than-expected number of mutations in one of the telomerase
a profound impact on the lives of very many genes,’’ Professor Bryan said.
children.
“They needed to determine whether these new mutations impacted
telomerase function, and approached us due to our expertise in the
techniques used to measure telomerase activity, many of which have
been developed or refined in my lab here at CMRI."
Professor Bryan said this was the first study to show that AML and MDS
Roger Reddel patients have a high chance of carrying a mutated gene which impacts
Lorimer Dods Professor telomere function. This could lead to altered cancer treatments that are
and Director, CMRI much less likely to result in excessive toxicity and side-effects.
— To find out more: www.cmri.org.au/tracybryannews
Life may have changed Show your true blue colours
but one thing is by buying some new Jeans
certain—Jeans for for Genes gear now available
Genes Day is still going at our shop. We have a new
ahead on Friday, collection of t-shirts, warm
7th August! winter hoodies, beanies and
much more.
— Visit jeansforgenes.org.au — Visit shop.cmri.org.au
Q&A Q: What attracted you to CMRI?
Dr Julius Kim The Translational Vectorology group
Research Officer, at CMRI was the best lab anywhere
Translational Vectorology Group
in the world to progress my
Q: What is your background? research and help develop vector-
After training in neuroscience and based tools that can be used in a
virology in the US, I pursued an wide range of basic and preclinical
opportunity to use the skills I had studies, as well as in clinical
Dr Julius Kim is a developed to improve treatments applications.
research officer in the for brain tumours. For the past
Q: What is your favourite part
five years, I have been focusing on
Translational Vectorology of the job?
the development of immune cell-
team at CMRI. He was recently based anti-brain tumour vaccines As my research is highly
awarded a Mark Hughes by using therapeutic vectors. This translational, there is high hope—a
Foundation research fellowship approach is shown to be non- real chance that my research, what
to develop emerging anti- invasive and, most importantly, I do every day, can directly impact
tumour therapies for effective in many other cancer the lives of patients and their
patients with brain types. carers.
cancer.
Gala goes Virtual
When the Jeans for Genes Gala Ball research. There was also a live
could not be held in June due to the cross to one of the faces of Jeans
ban on public gatherings, we looked for Genes for 2020, Ben, who has
to our scientists who are constantly been in isolation with his family for
innovating and decided to do just that three months to protect his immune
– and turned it into our first Virtual system.
Gala! difficult than the pandemic is to most
CMRI's Director, Professor Roger
of us. We gratefully appreciate your
This meant all the fun of the Gala Reddel, thanked everyone for their
support. On behalf of the children our
could be experienced at home by our support, on behalf of the kids.
research helps, thank you.’’
supporters anywhere in Australia.
“We know this pandemic will pass and
We would also like to extend our
The night was hosted by ABC Radio when it does there will still be children
thanks to the event sponsors: Linden
presenter, James Valentine, and facing cancer and serious inherited
Electric, Mortgage Choice, Digital
included live bands, an auction diseases. Through no fault of their
Realty, Forum Group and Empire
and an interview with Professor own, these children have to deal with
Project Management.
Phil Robinson about his COVID-19 problems that are more scary and
Committees Report
CMRI’s incredible Fundraising recorded a very special presentation Therapy Unit, Professor Ian Alexander
Committees usually gather at for everyone! We had staff and helped to ensure that Australian
Westmead for their Annual Meeting researchers read out key parts of children with SMA are among the first
but this year a virus got in the way. every committee’s annual report in the world to receive a revolutionary
which was then recorded and sent to new treatment.
Usually, Committees from all over
all members.
NSW and Canberra have a chance to Another fantastic result came through
meet, mingle and share the wonderful Some of the highlights included the from the Quirindi Committee whose
stories of how their community has Mudgee Committee raising $117,000 members raised $21,000 through
rallied behind CMRI’s research. at an event which was designed to a new idea of selling second-hand
educate their local area about Spinal clothes at a pop-up shop in their
Unfortunately, this year’s event
Muscular Atrophy—which impacts town. Their weekend event ended up
had to be cancelled, but instead we
a local child. Head of CMRI’s Gene running for three weeks!
— Contact research@cmri.org.au for more information on upcoming events
Showing Australia the value of research
Mollyjane, 10
CACT Deficiency Ben, 5
Lachlan, 5 Burkitt’s
SCN2A-related Lymphoma Charlize, 5
Charlie, 5 Autism Propionic
Max, 2 Cystic Fibrosis Acidemia
Shwachman-Diamond Briella, 6
Syndrome Diastrophic
Dysplasia
— Faces of the 2020 Jeans for Genes campaign
Before this year, most parents never had to worry Charlize had a liver transplant to save her life, but it
about their children being diagnosed with a deadly has only bought her time.
disease for which there is no vaccine, treatment or
“The liver transplant has saved her for now, but we
cure—but now the world has experienced exactly
live in fear of rejection, and she still has a limited life
what so many families live with every day.
span,” Julie said. “If she could have been given gene
As we launch the 2020 Jeans for Genes campaign and therapy, her life span would be normal. We hope now,
Australians start to return to their normal lives—the most importantly, maybe people will understand the
families of the 1 in 20 children who live with a genetic importance of research.’’
disease or birth defect can only dream of what that
Kate New is mum to Lachlan who has never walked
must feel like.
nor talked like his sister. She also hopes that
Their kids must always stay home from school if Australians now value research in a renewed way.
their classmate has a sniffle, or they could end up in
“I hope this experience shows people how important
intensive care. They cannot just sign up for the school
research is,’’ Kate said. “The only way life will return to
soccer team when their legs are barely strong enough
normal after COVID-19 is if there is a vaccine. For us,
to hold their weight. Their parents have given up jobs
I feel so strongly that people need to value research.
just to be able to offer the care they need.
I look at scientists that dedicate their lives to this
Julie Gravina is mum to Charlize, who lives with the research, and they are superheroes in my eyes.’’
same genetic disease that claimed the life of her
The importance of medical research has never been
twin brother. Julie feels a strange sense of relief that
more evident to the world, but when the pandemic is
people have had a glimpse into her daughter’s life.
over, the battle continues for these families.
“Everyone is now getting a taste of what we’ve lived,’’
Sign up now to fundraise online and make a lasting
Julie said. “We’ve had to create a world in a bubble
difference to generations of children.
for her.’’
Visit jeansforgenes.org.au
Please donate by phone or fax: Please donate online at: By post: Children’s Medical
P.+1800 436 437 F.+61 2 8865 2801 www.cmri.org.au/donate Research Institute, Reply Paid
71005, Wentworthville, NSW 2145
street: 214 Hawkesbury Rd, Westmead NSW 2145 Australia | postal: Locked Bag 2023, Wentworthville NSW 2145 Australia
ABN 47 002 684 737 freecall: 1800 436 437 p: +61 2 8865 2800 e: info@cmri.org.au cmri.org.au
No Junk Food June The newly created CMRI Denim Committee hosted their inaugural virtual event this June – No Junk Food June. With the hope of building a healthy community, participants fundraised while cutting out junk food in June and instead, opting for healthier alternatives. The committee has raised $7,955 as at 30th June for Children’s Medical Research Institute’s world- leading research on children’s genetic diseases. 90 Minutes for Cancer In 2019, a group of young community fundraisers called the 90 Minutes for Cancer Committee, decided to support Children’s Medical Research Institute through a soccer event and raised $34,000. This month one of their members, Jimmy Franzone, decided to use his DJ skills to entertain his friends online and raise more funds for us. For everyone who shared his live stream he offered to donate $5 to CMRI. His social distancing night of fun and generosity raised more than $500 for CMRI! Jimmy Franzone
DC-0056
Thank you for your generosity. Your
valuable support allows us to continue
our work on the most serious problems
affecting the health of our children. Every
dollar counts.
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children's genetic diseases?
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— We hope you enjoy reading the newsletter and are
always happy to receive your ideas and feedback. Please
let us know at research@cmri.org.au
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