Best Ultra Rare Disease Podcasts (2024)

1
How an Ultra-Rare Disease Patient Foundation Advanced a Gene Therapy 27:57

5d ago27:57

27:57

Multiple sulfatase deficiency is a rare and progressive neurodegenerative disease. The patient advocacy organization United MSD Foundation has been able to advance a gene therapy into preclinical development for the ultra-rare condition through modest investment by pursuing a focused research strategy and leveraging partnerships. In May 2023, The B…

1
EP 147: From research to delivering precision medicine in the clinic with Scott Weiss, Professor of Medicine at Harvard University 37:19

27m ago37:19

37:19

0:00 Intro to The Genetics Podcast 01:00 Welcome to Scott 01:55 Scott’s career highlights to date, ranging from epidemiology to the genetics of asthma and chronic obstructive pulmonary disease (COPD) 04:56 How and why Scott decided to transition into genetics 06:30 The advances in our understanding of the genetics of asthma and COPD over the past 2…

1
A Test to Identify People Likely to Develop ALS 46:30

39m ago46:30

46:30

Siblings and children of people with the rare, neurodegenerative disease amyotrophic lateral sclerosis are being offered a test in the United Kingdom at no-cost to see if they carry mutations to one of more than 40 genes that would make it likely for them to develop the condition. Sano Genetics the test under a grant from Innovate UK. The hope is t…

1
EP 146: The biology of aging with Austin Argentieri, Research Fellow at Harvard Medical School, Affiliate Member of the Broad Institute, and Research Fellow at Massachusetts General Hospital 43:05

5d ago43:05

43:05

0:00 Intro to The Genetics Podcast 01:00 Welcome to Austin 01:42 What is aging and how should we think about it? 03:50 Discussion of Austin’s recent breakthrough paper on aging, including the questions he set out to answer, and the outcomes of the research 06:32 How Austin’s work focuses on using large-scale population proteomics data to create acc…

1
Making the $10 Genome a Reality 21:35

12d ago21:35

21:35

Despite the growing demand for genomic data and the falling price of genome sequencing, costs continue to restrain its use. Single Technologies, which is developing a three-dimensional approach to sequencing, believes it can cut the cost to just $10 per genome for consumables. That’s a drop from estimates of about $600 today. We spoke to Johan Strö…

1
EP 145: Navigating rare disease drug development regulations with Daniel O’Connor 39:12

12d ago39:12

39:12

0:00 Intro to The Genetics Podcast 01:00 Welcome to Daniel 02:04 Defining rare disease in the age of personalized medicine 04:57 Key touchpoints with the Medicines and Healthcare products Regulatory Agency (MHRA) when developing a new medicine 09:27 Improvements over the course of Daniel’s career when it comes to incentivizing and making the path t…

1
EP 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's 56:48

19d ago56:48

56:48

0:00 Introduction 1:40 A recurrent de novo mutation in a noncoding region of a small nucleolar RNA gene that has been identified as one of the most common causes of neurodevelopmental disorders This pathogenic variant escaped notice for years because it was not located in a protein coding region of the genome It now shows potential as a target for …

1
A No-Nonsense Effort to Develop a Therapy that Works Across Genetic Diseases 28:01

21d ago28:01

28:01

Nonsense mutations prematurely end the translation of a gene into protein and can result in a serious deficiency. About 10 to 15 percent of inherited genetic diseases involve nonsense mutations. Alltrna is developing transfer RNA therapies designed to correct the problem in protein synthesis caused by these aberrations. What’s particularly exciting…

1
The patient journey | Sickle cell disease 31:56

26d ago31:56

31:56

In this episode, Tyler Piazza, BD Director at FIECON, hosts an insightful interview with Kevin Wake, CMR, CHW, M.S., a sickle cell disease patient advocacy leader and a health outcomes industry expert. Kevin, who was diagnosed with sickle cell disease at nine months old, is now the president of URIEL E OWENS SICKLE CELL DISEASE ASSOCIATION OF THE M…

1
Mapping a Perilous Journey with Humor 26:57

28d ago26:57

26:57

Effie Parks is well known in the rare disease community as both a patient advocate and host of the Once Upon a Gene podcast. Like many advocates, she was thrust into the world of rare diseases following the diagnosis of her son Ford with an ultra-rare neurodevelopmental disorder known as CTNNB1 syndrome. Recently she published a map of the journey …

1
EP 143: Harnessing human data in drug development with Jakob Steinfeldt, Co-Founder and Chief Scientific Officer at Pheiron 36:17

26d ago36:17

36:17

0:00 Intro to The Genetics Podcast 01:00 Welcome to Jakob and background on Pheiron 02:14 What made Jakob decide to start Pheiron, what the company does, and how his scientific background inspired him to found a start-up 5:24 Jakob’s excitement and inspiration around the power and potential of machine learning 07:07 Cardiology and heart failure as …

1
Restoring Vision in Inherited Retinal Disease 21:54

1M ago21:54

21:54

Inherited retinal diseases are a group of genetic conditions that cause progressive and severe vision loss, such as retinitis pigmentosa, choroideremia, and Stargardt disease. Though they vary in terms of their genetic drivers, they are characterized by degeneration of photoreceptor cells in the retina. Collectively, inherited retinal diseases affe…

1
EP 142: From genome to bedside: How genetics is transforming modern medical practice with Dr. Andrea Gropman 42:45

1M ago42:45

42:45

0:00 Introduction 1:40 Andrea’s background and how she got into the field of genetics, neuroimaging, and metabolic disorders 4:00 Insights into Andrea’s clinical practice, including the diverse families and patients she serves and her approach to clinical decision-making 6:30 How genetics and genomics have changed the diagnostic journey in the last…

1
Bringing Genome Sequencing to Rural Populations 27:51

1M ago27:51

27:51

For people in rural communities, access to genomic testing can require getting on a waitlist, delays in clinical assessment, and multiple visits to urban medical centers. A pilot study from Children’s Mercy Research Institute in Kansas City, Missouri, found that by partnering with a rural clinic in a direct-to-provider model it was able to more tha…

1
EP 141: Bringing genomics to the clinic with Lori Orlando, Associate Prof at Duke University 43:24

1M ago43:24

43:24

0:00 Intro to The Genetics Podcast 01:00 Welcome to Lori Orlando 03:00 Lori’s career: From mathematical modelling to genetics and family history 05:11 The study that revealed 20% of the general population is at a higher risk of disease than average and needs preventative care 07:36 The first five diseases that Lori started analysing through informa…

1
Addressing a Blind Spot in Treatments for the Cornea 23:20

2M ago23:20

23:20

The cornea is a transparent and multi-layered dome that sits at the front of the eye. It not only provides protection, but bends light to focus it on the retina. Many corneal diseases cause scarring that reduces the transparency of the cornea and results in the loss of vision. In fact, corneal diseases are a leading cause of blindness. Claris Bio i…

1
EP 140: The future of Electronic Health Records and data analysis with Ben Goldacre 52:51

2M ago52:51

52:51

0:00 Intro to The Genetics Podcast 1:00 Welcome to Ben Goldacre 02:22 Ben’s open data projects at the Bennett Institute and the challenges they aim to tackle 04:03 Using Electronic Health Records (EHR) to help the National Health Service improve care 06:18 The importance of software development within healthcare data and how to manage salary scales…

1
Taking a Different Approach to Rare Epilepsies 38:53

2M ago38:53

38:53

Lennox-Gastaut syndrome and Dravet syndrome are two rare, developmental and epileptic encephalopathies. Drug developers have sought to address epilepsies by altering the electrical activity in the brain. Ovid therapeutics, though, has taken a novel approach with its experimental therapy soticlestat by seeking to restore homeostasis to the brain. We…

1
EP 139: Rare disease breakthroughs using tRNA with Michelle Werner, CEO of Alltrna and CEO-Partner of Flagship Pioneering 44:42

2M ago44:42

44:42

0:00 Intro to The Genetics Podcast. 01:00 Welcome to Michelle. 02:00 Sstop codon diseases and how are they characterised 03:45 Diseases caused by premature stop codons in haploinsufficient genes. 04:35 The role of transfer RNA technology in finding solutions for premature stop codon diseases. 06:16 How Alltrna is engineering tRNAs which can bind to…

1
The patient journey | Metastatic breast cancer 41:38

2M ago41:38

41:38

In this episode Karl Freemyer, BD director at FIECON, is speaking with Emma Chaffin about her experience living with the metastatic breast cancer as a biopharmaceutical executive. Emma is a resilient breast cancer survivor who was diagnosed with stage 4 breast cancer five years ago at the age of 41. Facing a daunting prognosis and a treatment plan …

1
A Rare Disease Drug Developer Tries to Earn Its Stripes 20:00

2M ago20:00

20:00

Zevra Therapeutics, formerly KemPharm, rebranded itself in early 2023 following the acquisition of the experimental therapy arimoclomol for the rare lysosomal storage disorder Niemann Pick disease type C. Zevra is Greek for “zebra,” a symbol of rare disease. The company subsequently built out its rare disease pipeline through the acquisition of Ace…

1
Using Plasma to Treat Rare Diseases 15:01

2M ago15:01

15:01

For certain rare diseases, therapies derived from human plasma, the largest component of blood, represent critical lifesaving and life-sustaining medicines. In many cases, it may represent the only therapeutic option. Takeda pharmaceutical’s Plasma-Derived Therapies Business Unit works across immunodeficiencies, neuroimmunology, hematology, pulmono…

1
EP 138: Personalised medicine using microbiome models with Dr. Almut Heinken 40:22

2M ago40:22

40:22

0:00 Introduction 1:45 Almut’s research experience, including two recent publications on genome-scale metabolic reconstruction human microorganisms Genome-scale metabolic reconstruction of 7,302 human microorganisms for personalized medicine APOLLO: A genome-scale metabolic reconstruction resource of 247,092 diverse human microbes spanning multiple…

1
EP 137: Mavis Machirori on promoting equity, diversity, and social justice in genomics research 41:40

3M ago41:40

41:40

0:00 Intro 1:30 Mavis’ career arc, from starting as a midwife to researching medical innovation and technology with an emphasis on advocacy and equity 7:00 Systemic issues that are easily overlooked in medical research and advancements Webinar: Participant Diversity: Increasing the Impact of Biomedical Research Webinar 10:00 Addressing Eurocentrici…

1
Differentiating Gene Therapies through Regulatory Elements 25:47

3M ago25:47

25:47

Encoded Therapeutics is developing gene therapies that can target any cell type that has a unique genetic profile. The company’s lead experimental therapy is in development for the epileptic encephalopathy Dravet syndrome, although the company expects to pursue metabolic, liver, and cardiovascular conditions in the future. We spoke to Salvador Rico…

1
EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson 40:57

3M ago40:57

40:57

0:00 Introduction 2:00 Allison’s personal journey to researching epilepsy and ring chromosome 20 syndrome 4:00 Biggest challenges families face with ring chromosome 20 syndrome 11:00 Incidence and prevalence of r(20) syndrome, and how we can improve data reliability 21:00 Applying next generation sequencing to r(20) syndrome gene research 29:00 Eng…

1
How One Patient Organization Leverages Research Investments 29:05

3M ago29:05

29:05

Tuberous sclerosis complex is a genetic disorder that is characterized by tumor growth in various organs in the body, as well as neurological effects. Most people with TSC experience epilepsy early in life and many develop autism or other neuropsychiatric issues. The TSC Alliance has invested more than $37 million in research since 1984. Its effort…

1
EP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm 41:16

3M ago41:16

41:16

0:00 Introduction 1:30 Ingrid’s initial interests in genetics, paediatrics, and newborn screening 2:45 How the original BabySeq project, a pioneering newborn sequencing program got started, how it’s going, and the launch of BabySeq2 8:45 Lessons from BabySeq1 and goals for BabySeq2 10:30 Potential societal and long-term considerations for those inv…

1
Charging into the Storm 21:11

3M ago21:11

21:11

Sunitha Malepati entered the world of patient advocacy after her child was diagnosed with a rare, neurodevelopmental disorder. More recently she founded the Buffalo Initiative to change drug discovery and development by creating a fund to invest in scientific enterprises driven by patient organizations and their collaborative networks. We spoke to …

1
EP 134: Prenatal genetic testing and the future of AI in genetic counselling with Kira Dineen, host of DNA Today 40:44

3M ago40:44

40:44

0:00 Introduction 1:00 The backstory of how Kira first started DNA Today in 2012, when she was still in high school! 3:30 Some of Kira’s favourite topics she has discussed on DNA Today, including the legacy of Henrietta Lacks, and the story of a Glee actress with down syndrome 10:00 Kira’s best practices for podcasting, from over 10 years of experi…

1
A Gene Therapy Developer that Embraces Different Models for Reaching Patients 30:20

3M ago30:20

30:20

The work of gene therapy pioneer Genethon, a non-profit organization created by the patient association AFM-Telethon, has already seen its research lead to Zolgensma, the gene therapy for spinal muscular atrophy, as well as a growing pipeline of candidates for other rare diseases. But it came to realize it needed to pursue more than just licensing …

1
EP 133: Insights into pharmacogenomics and increasing diversity in genomics research with Dr. Emma Magavern 39:17

3M ago39:17

39:17

0:00 Introduction 2:00 The value of an English Literature degree in designing and analysing research studies in medicine 3:45 Emma’s entrance to pharmacogenomics and her transition from practising physician to genetics research 6:00 How the East London Genes and Health program is increasing representation of diverse populations, namely South Asians…

1
Using Directed Evolution to Develop New Vectors for Genetic Medicines 31:08

4M ago31:08

31:08

Much of the challenge of developing genetic medicines lies in having the right vector to deliver the therapy to the cells within the body where they need to go. 4D Molecular Therapeutics has developed platform technology that generates large numbers of genetically diverse, synthetic adeno-associated viral vectors that have desired characteristics u…

1
EP 132: From mammoths to genome editing, trailblazing genetics with Dr. George Church 47:41

4M ago47:41

47:41

0:00 Introduction 1:00 George’s upcoming big projects, including developing full recycling, renewing energy, creating bioweather maps, and harnessing citizen science 6:45 Progress in engineering viral resistance in humans, including thoughts from pre- and post- pandemic 11:00 A swapped genetic code that prevents viral infections and gene transfer b…

1
Addressing a Shortage of Genetic Counselors with AI 35:18

4M ago35:18

35:18

As genetic testing continues to expand, it is bringing into focus a shortage of genetic counselors who can work with patients to explain results and answer questions. Igentify is helping genetic counselors manage more patients by providing an AI-based platform that can take some of the load off of them by helping onboard patients, obtaining consent…

1
EP 131: The potential of somatic genomics in drug discovery and development with Jake Rubens 44:57

4M ago44:57

44:57

0:00 Intro 0:40 Jake’s experiences as a serial entrepreneur starting five companies with a basis in genomic science 5:30 Opportunities for research and drug development in the realm of somatic science 9:20 Somatic evolution and how it provides valuable insights into disease mechanisms 12:30 Advantages and disadvantages of studying germline genome-w…

1
A Small Molecule Therapy to Regenerate Muscle in People with DMD 23:55

4M ago23:55

23:55

Duchenne muscular dystrophy is an inherited disease caused by genetic mutations that no longer allow the dystrophin protein to function properly. It turns out that dystrophin not only plays a role in muscle fiber, but in muscle stem cells as well and is critical for regeneration of muscle tissue. Without dystrophin, people with Duchene suffer progr…

1
EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal 51:56

4M ago51:56

51:56

Show Notes: 0:00 Introduction 1:20 How polydactyl mutations can inform research on non-coding variant mechanisms The importance of low-affinity binding between transcription factors and targets How these lessons can help us improve our understanding of drug and target discovery See Veera’s January round-up for more information: https://www.gwasstor…

1
Forging a Faster Path for Gene Therapies 28:28

4M ago28:28

28:28

The Bespoke Gene Therapy Consortium, a public-private partnership backed by the Foundation for the National Institutes of Health, in February published its first playbook. The playbook provides a roadmap for streamlining product development and navigation of the regulatory pathway for AAV gene therapies with the goal of getting new treatments to pa…

1
Determining the Value of Rare Disease Therapies 25:25

4M ago25:25

25:25

The small patient populations of rare diseases, the limited natural history of these conditions, and the lack of long-term experience with new treatments all contribute to the difficulty in determining the value of rare disease therapies. The issue can be further complicated by whether value is calculated in a single payer system, or a multi-payer …

1
EP 129: Patient advocacy for genetic ALS and FTD with Jean Swidler, Executive Director of End the Legacy 38:44

4M ago38:44

38:44

0:00 Introduction 0:45 Jean’s personal experiences with family members with genetic ALS 10:00 Jean’s thoughts on the barriers and facilitators to providing treatment for those with genetic ALS 13:20 Insights into C9orf72, a common genetic determinant of ALS, and how it can also be associated with FTD 16:10 Jean’s experiences as an active advocate f…

1
EP 128: Parkinson’s disease and precision medicine with Drs. James Beck and Ignacio Mata 50:18

5M ago50:18

50:18

0:00 Introduction 1:05 Insights into the PD GENEration’s (a programme from the Parkinson's Foundation) milestones and progress points for the upcoming year 3:30 The shifting attitudes and perspectives of neurologists and healthcare workers at the PD GENEration 5:50 Insights into Nacho’s work with the genetics of Parkinson’s disease 10:20 Barriers a…

1
Buying and Building a Gene Therapy Presence 28:00

5M ago28:00

28:00

Astellas Pharma took a big step into gene therapies when it announced an agreement at the end of 2019 to acquire Audentes Therapeutics for $3 billion. The company continues to build on that acquisition and has just completed construction on a 154,000 square foot, state-of the art cell and gene therapy facility to bring together teams dispersed acro…

1
EP 127: Insights into precision medicine, fatty liver disease, and minimally invasive diagnostic tools with Dr. Mazen Noureddin 39:10

5M ago39:10

39:10

0:00 Intro 0:25 Mazen’s lifelong commitment to furthering the field of precision medicine in liver disease research, fueled by a personal connection of his grandmother developing MASH cirrhosis 2:30 Breakthroughs in the field of metabolic dysfunction-associated steatotic liver disease (MASLD) since the beginning of Mazen’s career 5:30 The potential…

1
A Clinical Trial Failure Derails a Promising Technology 44:08

5M ago44:08

44:08

In February, Synlogic cut 90 percent of its workforce as it ended a pivotal study of its lead experimental therapy to treat the rare, metabolic condition phenylketonuria. The decision came in response to results of an internal review that indicated the trial was unlikely to meet its primary endpoint. Synlogic, which had been developing a new class …

1
EP 126: Patient-led research for ultra-rare disease drug development with Julia Taravella, Executive Director of Rare Trait Hope Fund 39:41

5M ago39:41

39:41

0:00 Introduction 0:25 Julia’s personal experience with ultra-rare diseases within her family 10:25 The importance of increasing accessibility to genetic testing across populations to learn more about ultra-rare diseases 14:00 The origin story of Rare Trait Hope Fund 23:50 Current research and next steps in developing potential gene therapies for a…

1
Helping People with Undiagnosed Rare Diseases Find Answers 32:19

5M ago32:19

32:19

Michele Herndon’s son Mitchell began developing symptoms of an ultra-rare neurological condition in 2012. He went for five years without answers and in 2017, enrolled in the Undiagnosed Diseases Network, an NIH-funded research study that seeks to diagnose people with the most puzzling conditions. He was diagnosed with the genetic disease Mitchell s…

1
EP 125: The future of UK Clinical Trial Policy: Innovation, integration, and game-changing legislation with Lord James O’Shaughnessy 45:23

5M ago45:23

45:23

0:00 Introduction 1:25 How Lord O’Shaughnessy became involved in scientific policy making and his path to writing the UK Commercial Clinical Trials Review. 04:05 How Lord O’Shaughnessy pivoted from education to a focus on life sciences 06:38 The biggest challenges Lord O’Shaughnessy faced during his time as Parliamentary Under Secretary for Health …

1
Speeding and Scaling the Development of Genome Editing Therapies 50:47

5M ago50:47

50:47

Earlier this year the Innovative Genomics Institute and the life sciences tools conglomerate Danaher launched a collaborative center to develop genome-editing therapies for rare and other diseases. The Danaher-IGI Beacon for CRISPR Cures seeks to address hundreds of diseases with a unified research, development, and regulatory approach. Their goal …

1
EP 124: How ReCode Therapeutics is pioneering tissue specific delivery of gene therapies for Primary Ciliary Dyskinesia with John Matthews 42:00

6M ago42:00

42:00

0:00 Introduction 01:10 How growing up in Malawi planted the seeds for John’s career in medicine and transition to therapeutic development 04:35 Why John focuses on rare diseases and conditions such as asthma 06:01 What has changed over the last decade in terms of treating and understanding asthma and the progress that genetics has enabled 07:31 Wh…

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Ultra Rare Disease Podcasts

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