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In 1891, Guido Werdnig documented two cases of brothers who had global progressive muscular weakness. In 1935, Dr Dorothy Anderson conducted an autopsy on a young child who had died from malnutrition due to suspected coeliac disease despite being on the upon treatment. In 1943, in inherited form of intellectual disability in boys was described by Martin and Bell. The diseases are Spinal Muscular Atrophy, Cystic Fibrosis, and Fragile X syndrome respectively. The learning curve for genetics in the last 100 years has been a steep one.

Recessive genes circulate in the general community and for the most part, they are hidden and play no part in day-to-day life. Some may even have had a survival advantage in pre-modern times. However, if two parents each carry matching recessive genes, there is an increased chance that their children can have a severe or even life-threatening illness. Carrier screening provides a test for parents to assess this risk, however, it also requires an understanding of the testing paths, risks and cost from requesting doctors.

This is the story of carrier screening

Our special guest is Professor Graeme Suthers who is the Director of Sonic Genetics Australia.

Additional information:

Link to further information about reproductive carrier screening: https://www.sonicgenetics.com.au/patient/test-information/rcs/

Link to carrier screening online patient course: https://www.sonicgenetics.com.au/patient/test-information/rcs/carrier-screening-online-patient-course/

In 1891, Guido Werdnig documented two cases of brothers who had global progressive muscular weakness. In 1935, Dr Dorothy Anderson conducted an autopsy on a young child who had died from malnutrition due to suspected coeliac disease despite being on the upon treatment. In 1943, in inherited form of intellectual disability in boys was described by Martin and Bell. The diseases are Spinal Muscular Atrophy, Cystic Fibrosis, and Fragile X syndrome respectively. The learning curve for genetics in the last 100 years has been a steep one.
Recessive genes circulate in the general community and for the most part, they are hidden and play no part in day-to-day life. Some may even have had a survival advantage in pre-modern times. However, if two parents each carry matching recessive genes, there is an increased chance that their children can have a severe or even life-threatening illness. Carrier screening provides a test for parents to assess this risk, however, it also requires an understanding of the testing paths, risks and cost from requesting doctors.
This is the story of carrier screening
Our special guest is Professor Graeme Suthers who is the Director of Sonic Genetics Australia.
Additional information:
Link to further information about reproductive carrier screening: <a href="https://www.sonicgenetics.com.au/patient/test-information/rcs/" data-saferedirecturl="https://www.google.com/url?q=https://www.sonicgenetics.com.au/patient/test-information/rcs/&amp;source=gmail&amp;ust=1687888452233000&amp;usg=AOvVaw1DSeeKaO983XokOH86ggrg">https://www.sonicgenetics.com.au/patient/test-information/rcs/</a>
Link to carrier screening online patient course: <a href="https://www.sonicgenetics.com.au/patient/test-information/rcs/carrier-screening-online-patient-course/" data-saferedirecturl="https://www.google.com/url?q=https://www.sonicgenetics.com.au/patient/test-information/rcs/carrier-screening-online-patient-course/&amp;source=gmail&amp;ust=1687888452234000&amp;usg=AOvVaw3qwFvrg3NX8ysJglXdGmKY">https://www.sonicgenetics.com.au/patient/test-information/rcs/carrier-screening-online-patient-course/</a>

Welcome to the This Medical Life podcast. Our mission is to share stories about the triumphs and tragedies of diseases and illnesses from ancient times up until what we know today. It is about those scientific and medical minds who came before us and how, every single day, we stand on the shoulders of giants. This is a podcast about the stories of medicine.


Hosted by Dr. Travis Brown and Steve Davis, our target audience is General Practitioners, medical students, and other health professionals. We hope to educate, inspire and celebrate those who choose to care for others in their profession. From experience, we know that our audience extends beyond these fields and would like to welcome anyone to listen. The stories of those who came before us are nothing short of remarkable and we hope you enjoy them as much as we do.

Production by Tim Whiffen

Design by Tom Buzz

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