genetic disease

Today we’re talking about talking – finding openness and trust in our leadership and our relationship with the people around us, and unlocking authentic leadership in the process.

Peter de Silva is a highly experienced financial industry executive and board member. A former Harvard University Senior Fellow for the Advanced Leadership Initiative, he is the author of ‘Taking Stock – 10 life and leadership principles from my seat at the table’ just recently published in March this year.

As Retail President for online stockbroker TD Ameritrade, he was responsible for the $5bn retail business segment and 5,000 employees. He also served as President of Scottrade Financial Services and UMB Financial Corporation, as well as being a senior leader at Fidelity Investments.

As well as his extensive business career, Peter is also shaped by his experience with a debilitating neurological condition, Charcot Marie Tooth (CMT) disease, something he chose not to share with others for decades. He says “I believe that life experiences test the impressions people hold, values they set and believe, or a set of actions that people might want – or not want – to emulate."

I’m looking forward to hearing more about his journey in business and in life, how he balanced wellbeing and work, and the moments of remarkable clarity that shaped his path.

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Peter de Silva: https://peterjdesilva.com/

Peter de Silva on LinkedIn: https://www.linkedin.com/in/peter-j-desilva/

Taking Stock: 10 Life and Leadership Principles from My Seat at the Table: https://www.amazon.co.uk/Taking-Stock-Leadership-Principles-Table/dp/B0BZF9GG7Z

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The Unlock Moment podcast is brought to you by Dr Gary Crotaz, PhD. Downloaded in over 100 countries. Find out more at https://garycrotaz.com and https://theunlockmoment.com

CRISPR has emerged as a powerful tool for altering DNA sequences with incredible precision, opening up new avenues of research into the treatment of disease. In this episode, we explore the science behind CRISPR, as well as its potential. From curing genetic disorders to creating new crop varieties, the possibilities seem endless. Our four guests today are scientists working to push these gene editing tools to the next frontier.

CRISPR has emerged as a powerful tool for altering DNA sequences with incredible precision, opening up new avenues of research into the treatment of disease. In this episode, we explore the science behind CRISPR, as well as its potential. From curing genetic disorders to creating new crop varieties, the possibilities seem endless. Our four guests today are scientists working to push these gene editing tools to the next frontier.

In a rapidly changing technology environment, how do established businesses tackle smart growth and continue transformative change?  In this special edition of Talking Biotech Podcast we examine the business climate of Regeneron, and how growth in the era of genomics and massive data sets from human health changed the process of drug discovery, but also changed how the company would respond to new opportunities and challenges. Dr. Jeffery Reid, Chief Data Officer, explains where the company was, and how it has changed with the rocketing pace of data acquisition and integration. 

To join our private health community. Check out https://www.beyondmedicinegroup.com/

Casey Mcpherson is a Musician and Artist on a mission to find a cure for his daughter Rose. Rose is a 6-year-old girl who was born with a rare genetic disease. Faced with a grim prognosis, Casey set out on a path to find a cure for his daughter by starting a lab a building a team to find a cure.

You can learn more about Rose here at the To Cure a Rose Foundation. To connect with Casey, you can find him on Linkedin here. https://www.linkedin.com/in/caseymcpherson/

Episode Notes:
1. What is the story of Casey and Rose. 
2. The problem with rare genetic disease funding.
3. Running a genetic disease research company.
4. The moment of diagnosis. Facing denial. Grieving. Finding Purpose. 
5. What is Rose like.
6. The problems of finding a cure for rare genetic diseases. 
7. How does gene therapy work?
8. What Casey has learned in this process. 

In this episode, Ayesha discussed the FDA approval of Sanofi’s enzyme replacement therapy Xenpozyme for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD), a rare genetic lysosomal storage disease, in adults and pediatric patients. The drug is administered intravenously every two weeks and in clinical trials, demonstrated significant improvements in lung function as well as reductions in spleen and liver sizes. Hear more about the rare, fatal disease and the new drug approval for it.

Ayesha also talked about Medtronic’s new partnership with former Disney star Jennifer Stone on a new ad campaign for its diabetes tech, including the smart insulin injector InPen. Hear about Jennifer’s story as a type 1 diabetes patient and how the InPen helps patients like her simplify their diabetes management. Through the ad campaign, Medtronic is hoping to increase awareness about advanced diabetes tech like the InPen. The company is also working on new connected tech to integrate its different diabetes device offerings.

Read the full articles here:

Sanofi’s Enzyme Replacement Therapy Xenpozyme Wins FDA Approval for Rare Disease ASMD

Medtronic’s InPen Gets Backing from Disney Star Jennifer Stone in Diabetes Tech Campaign

For more life science and medical device content, visit the Xtalks Vitals homepage.

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In this episode, Ayesha discussed the NHS’s recommendation of Libmeldy, a gene therapy for the treatment of the rare disease MLD, which is officially the world’s most expensive drug with a list price of almost $4 million USD. The drug was developed by Orchard Therapeutics and the NHS was able to negotiate a greater discount on it with the company so that it can offer it to patients in England. Libmeldy was initially rejected by the drug price watchdog NICE in England over its exorbitant price. The editorial team discussed the high costs associated with orphan drugs and how both governments and pharma companies must work together to make them accessible to patients. 

The team also talked about a digital risk report that revealed the existence of significant cybersecurity vulnerabilities among the world’s top pharma companies. These include breaches and leakages of items like email addresses, passwords and even credit/banking information. Moreover, a significant percentage of breaches and record exposures occurred after 2020 and worsened in 2021 during the height of COVID-19 vaccine distribution efforts. Widespread cybersecurity breaches can lead to high-level attacks such as ransomware or coordinated disinformation campaigns. The team discussed how cyberattacks could hit almost every aspect of a pharma company’s operations, from R&D through to supply chains, and how this necessitates greater investments in cybersecurity infrastructure.

Read the full articles here: 

UK’s NHS Backs World’s Costliest Drug Libmeldy for the Treatment of Rare Disease MLD

New Report Finds Whopping Increase in Pharma Cybersecurity Threats

For more life science and medical device content, visit the Xtalks Vitals homepage.

Follow Us on Social Media

Twitter: @Xtalks
Instagram: @Xtalks
Facebook: https://www.facebook.com/Xtalks.Webinars/
LinkedIn: https://www.linkedin.com/company/xtalks-webconferences
YouTube: https://www.youtube.com/c/XtalksWebinars/featured

“God wastes nothing, even disability. He has a purpose for you right where you are.”

After receiving her EMT certification, Cady Bell was on the path to becoming a doctor to use her skills in service overseas. But when she began experiencing severe pain, seizures, stomach issues, and fainting, her life's plan dramatically changed. As Cady searched for the cause of her symptoms, her intensifying health challenges forced her to drop out of school and quit her job.

On the Joni and Friends Ministry Podcast, Cady is sharing her journey to finding a diagnosis for Ehlers-Danlos syndrome (EDS), a rare connective tissue disorder that affects mobility and strength. This invisible disability that has no cure has brought physical and emotional ups and downs, but has also beautifully deepened her relationship with God—something she wouldn't trade for perfect health. Hear how EDS helped Cady discover new joy and purpose and how she’s using her struggles to reach other women who might feel hopeless in their hardships.
 

Follow Cady on Instagram
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Questions or comments? Email Crystal at podcast@joniandfriends.org
Support Joni and Friends to help make this podcast possible.

Joni and Friends envisions a world where every person with a disability finds hope, dignity, and their place in the body of Christ. Join us in answering the call in Luke 14:21-23... until his house is full! 

Founded by author and international disability advocate Joni Eareckson Tada, the ministry provides Christ-centered care that serves needs and transforms hearts through Joni's House, Wheels for the World, and Retreats and Getaways. Joni and Friends also equips individuals and churches with disability ministry training and provides higher education courses and internships through the Christian Institute on Disability. Find more encouragement through Joni's radio podcast, daily devotional, or by following us on Facebook,  Instagram, and YouTube.

Forty seven year old Andy Lipman talks about what propelled him to write several books and start the CF Warrior Project.  You'll be inspired by Andy's story! Lipman is a positive role model, who defied all odds to become a college graduate, Olympic-torch bearer, runner, advocate, author, husband, and father. Dedicated to finding a cure for this genetic disease, Andy works tirelessly to raise awareness and funds for the terminal, invisible disease.

For more information on The Bonnell Foundation find us at https://thebonnellfoundation.org/

Vertex Pharma - the science of possibility.  https://www.vrtx.com

Reach and read about Andy Lipman: https://www.cfwarriorproject.org

Andy's family foundation: https://www.wishforwendy.org

The original music in this podcast is performed by Kevin Allan, who happens to have Cystic Fibrosis.  You can find him on Facebook here: https://www.facebook.com/KevinAllanMusic

This podcast was produced by JAG in Detroit Podcasts. https://jagindetroit.com/

Please like, subscribe, and comment on our shows, wherever you get your podcasts.

Please consider making a donation: https://thebonnellfoundation.org/donate/

The Bonnell Foundation website:https://thebonnellfoundation.org

Email us at: thebonnellfoundation@gmail.com 

Thanks to our sponsors:

Vertex: https://www.vrtx.com

Viatris:  https://www.viatris.com/en

Beth Vanstone talks about how a CF diagnosis thrust her into the world of advocacy.  The two Moms (Laura and Beth) quickly find they have so much in common, from victories to challenges, even though they're living in different county's. 

Please like, subscribe, and comment on our shows, wherever you get your podcasts.

Please consider making a donation: https://thebonnellfoundation.org/donate/

The Bonnell Foundation website:https://thebonnellfoundation.org

Email us at: thebonnellfoundation@gmail.com 

Thanks to our sponsors:

Vertex: https://www.vrtx.com

Viatris:  https://www.viatris.com/en

להאיר את הנדיר: מחלת פברי הנה מחלה גנטית נדירה הפוגעת ב-1:100,000 גברים ונשים, מתבטאת בפגיעה במערכות רבות בגוף ומכאן מורכבות האבחון שלה.

זיהוי מוקדם של התסמינים לצד העלאת המודעות למחלה בקרב הציבור הרחב ישפר את איכות החיים של החולים באופן משמעותי ויוביל לאבחון גנטי טרום-לידה בעתיד.

בפודקאסט זה אנו מארחים לשיחה את פרופ' גאונה אלטרסקו, מנהלת המרפאה למחלות ליזוזומליות ומנהלת היחידה לאבחון גנטי טרום-השרשתי במכון לגנטיקה רפואית בבית החולים 'שערי צדק'. 

למידע נוסף על המחלה: https://bit.ly/TakedaIL_FabriWeb

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מוגש כשירות לציבור על-ידי חברת טקדה ישראל בע"מ. 

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Speakers: Professor Zosia Miedzybrodzka (Chair in Medical Genetics and Clinical Geneticist), Dr Jonathan Pettitt (Reader in Genetics) and Dr Lynne Mennie (Project Manager for Genome Sequencing in NHS Scotland), University of Aberdeen.

 
The NHS in Scotland is deciding whether and how to adopt whole-genome sequencing as a routine test to diagnose genetic conditions. In this podcast, our guests examine the science underlying whole-genome testing, discuss the challenges and limitations of this approach and address some of the questions that still remain.

מוזמנים להקשיב לפודקאסט נדיר עם ד"ר טובה הרשקוביץ רופאת ילדים מהמכון הגנטי בבית חולים רמב"ם, המסבירה על מחלות נדירות.

מה הופך מחלה לנדירה? כיצד מתמודדים עם מחלות נדירות? ומתי כדאי לחשוב על בירור גנטי? האזנה נדירה. 

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מוגש כשירות לציבור על-ידי חברת טקדה ישראל בע"מ. 

See omnystudio.com/listener for privacy information.

You're carrying a few lethal genes, but how would you know? Ockham's Razor returns January 26, 2020.