Best Exome Podcasts (2024)

1
Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital 4:30

1h ago4:30

4:30

Dr Gustavo Spolador discusses the paucity of data around palliative care in Inherited Metabolic Disease and some of his own observations in a Brazilian quaternary hospital.Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospitalGustavo Marquezani Spolador, et alhttps://doi.or…

1
Pregnancy in Urea Cycle Disorders 17:08

7d ago17:08

17:08

This episode brings together two popular podcast topics, pregnancy and urea cycle disorders. Dr Margreet Wagenmakers and Dr Karolina Stepien share recent insights from a literature review and international survey exploring the experiences of mothers with urea cycle disorders. The management and clinical outcomes of pregnancies in women with urea cy…

1
Shortcast: Clinical experience with glycerol phenylbutyrate in 20 patients with UCDs 9:15

14d ago9:15

9:15

Mel McSweeney and Dr Mildrid Yeo briefly outline the approach to urea cycle disorder management and the Gt Ormond Street experience using glycerol phenylbutyrate as a nitrogen scavenger. Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centreMildrid Yeo, et alhttps://doi.org/10.1002/jmd2.1…

1
Liver directed gene therapy 33:50

22d ago33:50

33:50

The podcast returns to the subject of gene therapy, with Julien Baruteau, Nicola Brunetti-Pierri, and Paul Gissen discussing the potential of liver directed therapies with an emphasis on Wilson disease, Crigler-Najjar syndrome and PKU.Liver-directed gene therapy for inherited metabolic diseasesJulien Baruteau, Nicola Brunetti-Pierri, Paul Gissenhtt…

1
Shortcast: Psychosocial issues and coping strategies in families affected by long-chain FAOD 6:41

28d ago6:41

6:41

Dr Maren Thiel, Chair of the German speaking self-help group for fatty oxidation disorders, presents work completed with the Freiburg metabolic team looking at psychosocial issues and coping strategies in families affected by LC-FAOD.Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disordersMaren Thi…

1
BH4 in tyrosine hydroxylase deficiency 16:25

1M ago16:25

16:25

Listener feedback link: https://form.jotform.com/240459204544050Kunwar Jung-KC and Alba Tristán-Noguero discuss tyrosine hydroxylase deficiency and explain how the tyrosine hyodroxylase cofactor, BH4, has shown early therapeutic potential in human neurons and a knock-in mouse model. Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylas…

1
Shortcast: Lysinuric protein intolerance exhibiting RTA/Fanconi syndrome in a Japanese woman 4:02

1M ago4:02

4:02

Dr Hiroki Hanafusa presents the unusual case of a woman who was initially diagnosed with Fanconi Syndrome and later found to have Lysinuric Protein Intolerance.Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese womanHiroaki Hanafusa, et alhttps://doi.org/10.1002/jmd2.12392…

1
How to proceed after a "negative" exome 23:07

2M ago23:07

23:07

A superlative trio, Dr Machteld Oud, Dr Clara van Karnebeek and Dr Saskia Wortmann join the podcast to explain the importance of diagnostics, why all exomes aren't equal and just how should you proceed after a 'negative' exome.How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomic…

1
Shortcast: Neuropsychological stability in classical galactosemia: A pilot study in 10 adults 3:13

2M ago3:13

3:13

Merel Hermans describes her work reviewing neuropsychological stability in adults with classical galactosemia.Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patientsMerel E. Hermans, et alhttps://doi.org/10.1002/jmd2.12410By Journal of Inherited Metabolic Disease

1
Food or medicine? Nutritional therapies in IMD 16:58

2M ago16:58

16:58

Returning guests, Nina Stolwijk and Dr Carla Hollak, and their colleague Dr Annet Bosch, try to untangle the tricky subject of regulation in nutritional products used as therapies in IMD. They also present a framework for when a food should be considered a medicine. Food or medicine? A European regulatory perspective on nutritional therapy products…

1
Metabolic mysteries: Three children with neurological symptoms and coagulopathy 5:41

2M ago5:41

5:41

Shelby Mills on behalf of the UTH Medical Genetics Team, invites you to consider three mystery cases serving to hi-light some common, and some less common, presenting features for a treatable inherited metabolic disease.Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American originShelby L. Mills, …

1
Movement disorders and mRNA therapy in Arginosuccinic aciduria 24:44

3M ago24:44

24:44

Dr Sonam Gurung and Dr Julien Baruteau discuss movement disorders in Arginosuccinic aciduria and explain how recent work with mRNA therapy shows potential as a treatment in this condition.The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaGurung et alhtt…

1
Metabolic mysteries: Recurrent miscarriage and congenital anomalies 3:05

3M ago3:05

3:05

Dr Malak Alghamdi unravels the mystery of a 32-year-old woman with a history of recurrent miscarriage and early neonatal death with congenital anomalies. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal womanMalak Ali Alghamdi, et al https://doi.org/10.1002/jmd2.12384…

1
Hepatic presentations in mitochondrial depletion syndromes 10:52

3M ago10:52

10:52

In this podcast, Dr Roshni Vara discusses the experience of a single paediatric liver centre with children whose liver failure arose due to a mitochondrial DNA depletion syndrome.Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experienceR. Vara, et alhttps://doi.org/10.1002/jimd.12633…

1
Shortcast: Lysosomal storage disorders identified in adult population from India 7:20

3M ago7:20

7:20

Professor Jayesh Sheth shares 20 years of insights on diagnosing adult onset lysosomal storage disorders at a tertiary genetic centre in India.Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, et alhttps://doi.org/10.1002/jmd2.12407…

1
Genomic newborn screening: are we entering a new era of screening? 57:44

3M ago57:44

57:44

Dr David Bick, Dr Jim Bonham MBE and Henrietta Hopkins re-create a panel from the SSIEM Annual Meeting in 2022 to discuss the use of whole genome sequencing in NBS, asking "are we entering a new era of screening?"Genomic newborn screening: Are we entering a new era of screening?Ute Spiekerkoetter, et alhttps://doi.org/10.1002/jimd.12650…

1
Shortcast: A case of hyperlysinemia identified by urine newborn screening 4:57

4M ago4:57

4:57

Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy. A case of hyperlysinemia identified by urine newborn screeningMehdi Yegane…

1
JIMD Editor's Roundtable (2023) 39:29

4M ago39:29

39:29

The Journal of Inherited Metabolic Disease Editorial Committee come together to talk about the direction of metabolic medicine, the dangers and potential of AI, impact factors, reviewing papers and their publication hopes for 2024. There's also a little metabolic quiz, allowing you to pit your wits against the committee. Featuring: Shamima Rahman, …

1
Shortcast: Relationship between plasma & capillary blood Phe using volumetric collection devices 4:25

4M ago4:25

4:25

Blood spots are integral to disease monitoring in PKU, however, there are concerns regarding correlation between capillary and plasma levels and discrepancies arising based on sampling quality and storage. Dr Rachel Carling explains how a volumetric blood collection device presents a cost effective way to improve consistency and reduce rejected sam…

1
Deciphering pathogenicity with CRISPR/Cas9 13:07

4M ago13:07

13:07

In our latest podcast, Antonia Ribes, Frederic Tort, and Gerard Muñoz-Pujol discuss CRISPR/Cas9 based technique for the validation of genetic variants requiring just the genetic data. CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disordersGerard Muñoz-Pujol, et alhttps://doi.…

1
Shortcast: Grip strength in patients with galactosemia and in a GALT-null rat model 12:00

5M ago12:00

12:00

In the latest Shortcast, Jared J. Druss and Professors Nancy Potter and Judy Fridovich-Keil discuss grip strength in galactosemia (and how competitive boys can bias study results).Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat modelJared J. Druss, et alhttps://doi.org/10.1002/jimd.1268…

1
Gene therapy in Glycogen Storage Disorders 13:20

5M ago13:20

13:20

Dr Dwight Koeberl joins the podcast to provide some background to gene therapies in Glycogen Storage Disorders, hi-light some ongoing studies and explain why we owe at least some of our knowledge to a menagerie of animal models. Gene therapy for glycogen storage diseasesDwight D. Koeberl, et alhttps://doi.org/10.1002/jimd.12654…

1
Shortcast: Screening data for 19 patients with late-onset Pompe disease for a phase I clinical trial 4:29

5M ago4:29

4:29

Dr Will Heath describes insights form screening data derived from 19 patients enrolled in a phase 1 study in late-onset Pompe disease.Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapyWilliam B. Hannah, et alhttps://doi.org/10.1002/jmd2.12391…

1
CAD deficiency: Beyond the genetics 20:19

6M ago20:19

20:19

In an ensemble piece, Dr Saskia Wortmann, Dr Hud Freeze, and Dr Santiago Ramón-Maiques discuss CAD deficiency and the challenge of finding new ways to validate genetic variants when pathogenicity seems uncertain. Beyond genetics: Deciphering the impact of missense variants in CAD deficiencyFrancisco del Caño-Ochoa, et alhttps://doi.org/10.1002/jimd…

1
Shortcast: Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales 5:35

6M ago5:35

5:35

Dr Kaustuv Bhattacharya explains the insights of his team into the diagnosis and management of a cohort of children with McArdle Syndrome and challenges some of the conceptions around this disease. Diagnosis and management of children with McArdle Syndrome (GSD V) in New South WalesLouisa Adams, et alhttps://doi.org/10.1002/jmd2.12389…

1
Shortcast: PIGO-CDG: A case study, phenotypic expansion, lit review, and nosological considerations 5:46

6M ago5:46

5:46

Dr Rodrigo Starosta describes the management of a challenging presentation of PIGO-CDG and discusses insights into this rare GPI-anchor disorder. PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerationsRodrigo Tzovenos Starosta, et alhttps://doi.org/10.1002/jmd2.12396…

1
Comorbidity in acute porphyria 19:02

6M ago19:02

19:02

It's a 2-for-1 podcast as Dr Mattias Lissing of the Karolinska Institute joins us to discuss two recent papers looking at cancer risk, comorbidity and mortality in the acute porphyrias.Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individualsMattias Lissing, et alhttps://…

1
Metabolic mysteries: Post-partum ataxia and confusion 4:10

6M ago4:10

4:10

Dr Markey McNutt of UT South Western describes a patient presenting with post-partum ataxia and confusion and just when you think you know the answer there's an extra mystery at the end. Read the paper here:https://doi.org/10.1002/jmd2.12388By Journal of Inherited Metabolic Disease

1
Shortcast: A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD 5:27

6M ago5:27

5:27

Dr Claire Horgan discusses the first year of offering gene therapy to patients with metachromatic leukodystrophy (MLD) in the UK. When given in a timely fashion the impact is incredible but large numbers of children remain ineligible for treatment. A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished…

1
An oral enzyme therapy for MSUD 12:32

7M ago12:32

12:32

In this podcast, Dr Kristen Skvorak discusses the development and testing of a new oral enzyme for the treatment of Maple Syrup Urine Disease. Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primatesKristen Skvorak, et alhttps://doi.org/10.1002/jimd.12662…

1
Shortcast: Comparison of subcutaneous and intravenous moss-aGal in Fabry disease mouse model 4:19

7M ago4:19

4:19

Enzyme Replacement Therapy (ERT) has changed the course of several lysosomal storage disorders but regular, intravenous administration is not without its issues. In this latest Shortcast, Dr Paulina Dabrowska-Schlepp describes her group's work to develop subcutaneous ERT for Fabry Disease.Comparison of efficacy between subcutaneous and intravenous …

1
Metabolic mysteries: A child with dystonia and MRI changes 3:55

7M ago3:55

3:55

Dr Luisa Averdunk of the University Children's Hospital in Düsseldorf discusses the investigation of a 2-year-old presenting with acute episodes of dystonia and symmetrical basal ganglia abnormalities. Will you unravel this metabolic mystery before all is revealed?See the associated image and read the full report here:https://onlinelibrary.wiley.co…

1
Fetal gene therapy 14:51

7M ago14:51

14:51

In our latest podcast we welcome Simon Waddington, Professor in Gene Transfer Technology at the EGA Institute for Women's Health. Professor Waddington discusses the development of fetal gene therapy and why it might be desirable to deliver gene therapy to the unborn child.Fetal gene therapySimon N. Waddington, et alhttps://doi.org/10.1002/jimd.1265…

1
Innovative Blood and Marrow Transplant & Gene Therapy for Rare Diseases 35:51

7M ago35:51

35:51

Dr. Paul Orchard is the Medical Director of the Inherited Metabolic and Storage Disease Program and a Professor in the Department of Pediatrics in the Division of Blood and Marrow Transplant & Cellular Therapy (BMT & CT) at the University of Minnesota. He is interested in using hematopoietic stem cell transplantation (HSCT) and other cell therapies…

1
Shortcast: Interstitial lung disease and pancreatic exocrine insufficiency in CADDS 5:54

7M ago5:54

5:54

Dr Oliver Heath describes a new patient with CADDS who developed pancreatic exocrine deficiency and interstitial lung disease. Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature reviewOliver Heath, et alhttps://doi.org/10.1002/jmd2.12390By Journal of Inherited Metabolic Disease

1
SSIEM 2022 special episode 52:22

7M ago52:22

52:22

Professor Ute Spiekerkoetter co-hosts a special episode of the podcast, compiled to accompany the SSIEM 2022 themed issue from September 2023 and look back on a wonderful meeting hosted in Freiburg the year before. This episode features three different papers and you jump straight to these at the following locations:6 min 25 sec: Dr Carla Hollak, N…

1
Gene therapy in urea cycle disorders: a historical perspective and future prospects 11:28

8M ago11:28

11:28

Dr Julien Baruteau joins the podcast to look back at the history of gene therapy research in Urea Cycle Disorders, and discuss the future of genomic therapies in this group of conditions with a high unmet need.Gene therapy for urea cycle defects: An update from historical perspectives to future prospectsClaire Duff, et alhttps://doi.org/10.1002/jim…

1
Lifting the Voices of the Community in the Rare Disease World Through Storytelling 41:54

8M ago41:54

41:54

If you need a boost of inspiration, a bit of laughter, and a lot of intention, listen to our special guest on the Newborn Screening SPOTlight podcast Effie Parks, who transformed her experiences raising a son with a rare disease to helping others by sharing their stories on her podcast, Once Upon a Gene. The best way to describe Effie may be as the…

1
Possible substrate reduction therapy in disorders of valine and isoleucine metabolism 19:28

8M ago19:28

19:28

Dr Sander Houten of the Icahn School of Medicine returns to the podcast to explain his work exploring opportunities for substrate reduction therapy in disorders of valine and isoleucine metabolism.Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isol…

1
Shortcast: Prolonged respiratory failure treatment in isolated homocysteine remethylation defects 1:56

9M ago1:56

1:56

In a 'short' Shortcast, Dr Julien Baruteau introduces his Report of two infantile-onset cases of remethylation defects and their response to treatment. Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defectsAbigail Whitehouse, et alhttps://doi.org/10.1002/jmd2.12375…

1
A clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency 10:52

9M ago10:52

10:52

Dr Itay Latzer, from Boston Children's Hospital, joins the podcast to discuss the development and utility of a clinical severity scoring system in the ultra-rare disease SSADHD.Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiencyItay Tokatly Latzer, et alhttps://doi.org/10.1002/jimd.1…

1
The Role of Medical Genetics in Newborn Screening and Genome Sequencing 50:43

9M ago50:43

50:43

Join us on the Newborn Screening SPOTlight podcast with Dr. Jerry Vockley, who is a Professor of Human Genetics, the Graduate School of Public Health, Cleveland Family Endowed Pediatric Research, School of Medicine, Chief of Genetic and Genomic Medicine, UPMC Children’s Hospital of Pittsburgh, and Director of the Center for Rare Disease Therapy, UP…

1
Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease 4:45

9M ago4:45

4:45

Dr Emma Glamuzina of the National Metabolic Service in New Zealand, describes a neonatal presentation of CARS2- related mitochondrial disease and the diagnostic challenges this brought in a pre-exome/genome era. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-relate…

1
Pregnancy in acute porphyria 24:41

9M ago24:41

24:41

Dr Daphne Vassiliou joins the podcast to discuss past concerns about pregnancy in porphyria and how more data has reassured regarding safety and hi-lighted areas for increased vigilance. Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort StudyÄngla Mantel, et alhttps://doi.org/10.1002/jimd.12616…

1
Gene therapies in mucopolysaccharidoses 15:31

10M ago15:31

15:31

Nicola Brunetti-Pierri of the Telethon Institute of Genetics and Medicine joins the podcast to discuss his recent review looking at the various gene therapy approaches in the mucopolysaccharidoses along with their strengths and limitations.Gene therapies for mucopolysaccharidosesAlessandro Rossi and Nicola Brunetti-Pierrihttps://doi.org/10.1002/jim…

1
North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) and Early Check Project 59:34

10M ago59:34

59:34

Today, on the Newborn Screening SPOTlight podcast, we are thrilled to have Dr. Cynthia Powell join us to share her vision of genomic sequencing in newborn and her experience as the Past Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children. Dr. Powell is a Professor of Pediatrics and Genetics at the University…

1
Shortcast: Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant 5:04

10M ago5:04

5:04

Dr Isabelle Adant follows up on a recent review on ATP7A with the case of a neonate presenting with occipital horn syndrome. Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variantIsabelle Adant, et alhttps://doi.org/10.1002/jimd.12621By Journal of Inherited Metabolic Disease

1
Racial diversity and the S135L variant in galactosemia 23:03

10M ago23:03

23:03

Professor Judy Fridovich-Keil returns to the podcast to explain gaps in research data around the S135L variant in classic galactosemia and why current data sets may not not truly reflect the international experience of galactosemia. A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T…

1
Shortcast: Increased prevalence of Parkinson's disease in alkaptonuria 7:03

10M ago7:03

7:03

Professor Ranganath discusses his observations around the increased incidence of Parkinson's disease in Alkaptonuria and shares his thoughts on the possible pathophysiology.By Journal of Inherited Metabolic Disease

1
Shortcast: Late infantile & adult-onset MLD due to novel missense variants in the PSAP gene 3:45

11M ago3:45

3:45

Professor Jayesh Sheth discusses two patients diagnosed with MLD following milder presentations, both related to novel missense variants in the PSAP gene. Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from IndiaJayesh Sheth, et alhttps://doi.org/10.1002/jmd2.12374…

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