genetic disease

What if you could program a cell directly to fight cancer? What if you could solve the 7,000 genetic diseases facing our species? This type of science fiction is now a reality, thanks to today’s guests on the Beat the Often Path Podcast. Joining me today are Omar Abudayyeh and Jonathan Gootenberg, creators of the AbuGoot lab at MIT, two people leading the way in gene therapy, gene editing, and CRISPR innovations.

The AbuGoot lab combines natural biological discovery and molecular engineering to develop a suite of new tools for manipulation of DNA, RNA, and cellular states – the cellular engineering toolbox. In short, it doesn’t get more cutting edge than this.

➡️ https://www.abugootlab.org/

➡️ Highlights: https://rosspalmer.com/omar-abudayyeh  

Peek into the future of gene therapy and its capacity to treat – maybe eliminate – genetic diseases like cancers and hemophilia. Plus, the potential to reverse the effects of aging. 

It’s a future scientists have been working toward for years: How to treat complex health  problems with gene therapy. And researchers have been making progress. Diagnoses once thought to be fatal are now being looked at in a new light.

This is a welcome sight for physicians, caregivers, and – most of all – for the patients living with these genetic diseases. 

One disease that’s impacting lives worldwide is cancer. Nearly 40% of the world’s population will be diagnosed with it at some stage of life.

Typically, cancer treatment takes three forms: chemotherapy, surgery, or radiation therapy. Targeted drug therapies also exist, which work by identifying and attacking cancer cells individually.

But the treatment that many believe has the most potential is immunotherapy.

Immunotherapy uses a patient’s immune system to target and destroy cancerous tumors. And a specific type of immunotherapy known as Chimeric antigen receptor (or CAR) T-cell therapy has particular promise.

Over the last few years, progress with this new class of gene-based treatment has accelerated.

CAR T-cell Therapy is when a patient's own immune cells – the white blood cells called T cells – are genetically altered to target and attack a specific cancer within the body. These cells are first removed from the patient’s blood. Their genes are then altered to produce proteins called CARs, which allow the T cell to better recognize – and attack – specific cancer cells. When the altered immune cells are reintroduced into the patient's bloodstream, these proteins latch onto both healthy and cancerous cells, destroying the cancerous cells while leaving the healthy cells unharmed.

CAR T-cell Therapy has the ability to revolutionize cancer treatment and prevent relapse, as  these cells can potentially continue to attack cancerous cells in a patient’s body for years. But it’s not a solution for everyone. Only about 40% of patients have long-term responses.

But if this therapy achieves what scientists believe it can, chemotherapy could be a thing of the past, and when it comes to the future of gene therapy and genetic diseases, there's reason for optimism.

For more education on gene therapy, visit www.genetherapynetwork.com.

Pick any two humans on Earth and analysis will show that their DNA is around 99.9% identical. But that tiny 0.1% difference, in combination with our environment, is what makes us unique. We each have a singular experience of the world—the interactions we have, the food we eat, the diseases we suffer. In this final webinar in our 2021 series on rare diseases, we will take a critical look at the importance of understanding our rarity and uniqueness as a way to understand the human condition, our needs, and health. We will explore the importance of being “rare” and move past our innate desire for homogeneity and the comfort of conformity, to embrace heterogeneity and difference. Valuing differences is a pathway to growth and progress as individuals and societies. Having explored the unique challenges of people with rare diseases, might we argue that all disease is unique for the person who endures it?

With:

Ioannis Thomas Pavlidis, Ph.D. (University of Houston, Houston, Texas)
Inês Pires Santos Ramos Pinheiro, Ph.D. (Institut Curie, Paris, France)
Judith S. Kaur, M.D. (Mayo Clinic, Jacksonville, Florida)
Terrence Forrester, M.D., Ph.D. (The University of the West Indies, Kingston, Jamaica)

If our ability to test for and detect rare diseases can be significantly
improved, a predictable future challenge will be that patients are
diagnosed but there is no available means or expertise to provide
optimal treatment and ongoing support. In this webinar, we will discuss
strategies for solving this issue, including how data collected by
international consortia in diverse settings might inform possible
solutions, and how these solutions might be implemented.

With:

Domenica Taruscio, M.D. (National Centre for Rare Diseases, Rome, Italy)

Tim Guilliams, Ph.D. (Healx, Cambridge, UK)

David A Pearce, Ph.D. (Sanford Health, Sioux Falls, SD)

Marta Mosca, M.D., Ph.D. (University of Pisa, Pisa, Italy)

Sean Sanders, Ph.D. (Science/AAAS, Washington, DC)

This podcast was adapted from a webinar launched by Science Magazine, with the support of Fondation Ipsen.

It began as a Facebook post for someone looking for help getting a child with a rare neurological condition whole genome sequencing. It resulted, though, in groundbreaking work by Timothy Yu, a neurologist and attending physician in the Division of Genetics and Genomics at Boston Children’s Hospital to develop a custom antisense oligonucleotide therapy for the little girl, who had a rare form of the neurodegenerative condition Batten disease. The work to design and deliver an antisense therapy in under a year has excited the rare disease community for the potential of individualized therapy that address the underlying genetic mechanisms of rare diseases. We spoke to Yu about his work, the potential to industrialize the creation and delivery of individualized therapies for rare disease patients, and the challenges that need to be addressed.