Rare diseases present a series of challenges on numerous fronts. From simply deciphering what a patient is affected by to considering how best to manage a rare condition with limited pre-existing medications available for a rare disease, each new development or breakthrough brings clinicians to a new question. While these conditions are, in isolation, rare; in total rare diseases impact 25-30million people in the USA alone. 

Supported by Psomagen and featuring four fascinating guests from across the spectrum of topics and focuses in the rare disease space, this episode explores the updates to whole-genome sequencing technology that have improved the "Diagnostic Oddysey" experienced by some patients, enabled more accurate drug development and provides&nbsp;insight into the diagnosis and characterization of undefined rare diseases, before exploring the clinical impact whole-genome sequencing can have on clinical outcomes.

This episode features insight from four field-leading experts in rare disease research, whole-genome sequencing technologies and clinical practice for patients with rare diseases, including: 
Alan Beggs: Director of The Manton Center for Orphan Disease Research, Sir Edwin and Lady Manton Professor of Pediatrics at Harvard medical school Christine Stanley: Chief Director of Clinical Genomics at VariantyxDavid Dimmock: Senior Medical Director of Rady Children's Institute for Genomic MedicineTake Ogawa: Vice President, Sales &amp; Marketing at Psomagen&nbsp;
Contents
Introduction: 00:00-02:30Defining the Diagnostic Oddysey: 02:30-06:20Rare disease discovery: 06:20-09:20Techniques involved in Rare disease discovery: 09:20-12:05Whole-genome sequencing updates impacting clinical diagnosis: 12:05-18:30Currently required improvements in techniques for rare disease research and management: 18:30-24:10Explaining long-read and short-read sequencing: 24:10-26:00Developing therapeutics for rare diseases: 26:00-30:00Whole-genome sequencing in animal model validation: 30:00-31:20Improving access to whole-genome available to researchers and clinicians: 31:20-33:40Whole-genome sequencing improving management and outcomes for rare diseases: 33:40-38:27

Whole-genome-sequencing: navigating the "Diagnostic Odyssey" in rare disease research

Analysis of nitrosamine impurities: an interview with Javier Jimenez-Villarin

Flow cytometry for CGT assay development: an interview with Richard Cuthbert

In this Tech Blast episode, we discuss preclinical models of non-alcoholic fatty liver disease with Gareth Guenigault, Lead Scientist of Services at CN Bio (Cambridge, UK). Gareth provides an overview of non-alcoholic steatohepatitis (NASH) therapeutic landscape and explains how incorporating organ-on-a-chip models into drug discovery workflows can improve this landscape.

Get Gareth’s expert insight into the field and discover how to develop liver-on-a-chip NASH models, tips for analyzing the resultant data, and the future of organ-on-a-chip technologies.

Contents:
Introduction: 00:00–00:30
Pathology and prevalence of NASH: 00:30–01:50
Challenges faced when developing drugs for NASH: 01:50–03:40
An overview of organ-on-a-chip models: 03:40–05:05
Liver-on-a-chip models for NASH: 05:05–07:05
Incorporating organ-on-a-chip into drug discovery workflows: 07:05–08:45
Accessing liver-on-a-chip and NASH models: 08:45–09:45
The NASH-in-a-box workflow: 09:45–10:45
Gareth’s tips for analyzing the data: 10:45–12:15
The future of organ-on-a-chip technology: 12:15–13:55

Tech Blast | Organ-on-a-chip models of fatty liver disease

The key diagnostic and prognostic information locked away in cell-free nucleic acids (cfNAs) has become increasingly accessible due to developments in genetic and epigenetic profiling techniques. These advances have engendered the rise of liquid biopsy techniques, which capture and analyze cfNAs from samples such as blood, saliva, urine and feces, in diagnostics and basic disease research.

However, challenges remain in the detection and analysis of these nucleic acid fragments, in part due to their low abundance and fragile nature. In this episode, Ayla Maunighan-Peter, Epigenetics Product Specialist at Zymo research (CA, USA), details the utility of these molecules, the challenges associated with their development and implementation of liquid biopsies and their use&nbsp;in both basic research and diagnostic spaces. 

For an insight into how cfNAs can be used to identify novel drug targets, impact diagnostics development and be used to help soothe the organ shortage crisis, listen today!

Contents:
Intro: 00:00-00:40What are cfNAs? 1:50-02:35The role of cfNAs in Liquid biopsy: 02:35-04:25Markers analyzed in cfNAs: 04:25-06:10Epigenetic analysis of cfNAs: 06:05-07:55Techniques for epigenetic analysis of cfNAs: 08:00-08:55Introducing fragmentomics: 08:55-11:05 Challenges in the development of liquid biopsy: 11:05-14:40How is the field trying to adapt to these challenges? 14:40-16:10Applications of cfNAs in basic research: 16:10-17:30The most exciting findings concerning the role of cfNAs in disease: 17:30-20:05One thing to improve our understanding and use of cfNAs: 20:05-21:10Conclusions: 21:15-22:15&nbsp;

Liquid biopsy and cfNAs: driving forward diagnostics and disease research

In this Tech Blast episode, we discuss all things organoids with Ritwika Biswas, Product Specialist at Sino Biological US Inc (PA, USA). Ritwika provides an overview of what are organoids are, how reconbinant growths factors are utlized in their development, the benefits 3D organoid systems offer over 2D cell culture systems and the various applications organoids can be used for.

Ritwika also explores the challenges that remain in organoid research and how these can be overcome, as well as what the future holds for these models.

Contents:
Introduction: 00:00–00:30
What are organoids? 00:30–01:05
Existing organoids: 01:05–02:00
Generating organoids and cell culture methods: 02:00–04:30
Applications of organoids: 04:30–06:10
Comparing 3D and 2D culture systems: 06:10–07:40
Reproducibility, matrigels and increasing complexity: 07:40–09:50
The future of organoids: 09:50–12:20

Tech Blast | Organoids

In this Tech Blast episode supported by CN Bio (Cambridge, UK), their Lead Scientist Emily Richardson and Principal Bioengineer Dharaminder Singh talk us through organ-on-a-chip (OOC) technologies. From what they are and how they work to what kind of data they provide and their future applications, Emily and Dharaminder provide all the information you need to understand the basics of OOC.

CN Bio In Focus Podcast

In this episode of The New Frontier podcast, we're joined by Daniel Schulz-Jander, Senior Director of Mass spectrometry Bioanalysis at QPS Netherlands (Groningen). Daniel explains how he uses immune-precipitation and immunoaffinity LC–MS techniques for his work relating to macromolecular pharmaceuticals like gene therapies, as well as their benefits and challenges. Daniel also covers bottom-up, middle-down and top-down approaches and their suitability for his work in clinical support versus research and discovery.

The new frontier: using LC–MS/MS for quantitative assays to support gene therapies

In the fifth episode of The New Frontier podcast, we're joined by Paul Byrne, Senior Director of Genomics from ProtaGene (MA, USA). Paul describes his experience working with qPCR vs digital and digital droplet PCR assays and advises on their pros and cons, as well as when it's best to use each. We discuss how these assays can be optimized for cell and gene therapy targets and get a peek into the tips and tricks he's picked up over his 30 years of experience.

The new frontier: qPCR vs ddPCR for cell and gene therapies

In this Tech Blast episode supported by Sartorius (Göttingen, Germany), we speak with David Apiyo – Manager of Applications Development at Sartorius (MN, USA) – about epitope binning, why it's performed and the best ways to conduct it. Plus, learn more about Sartorius' biolayer interferometry platforms and their application in epitope binning.

Tech Blast | Epitope binning

We caught up with Principal Scientist Lindsay Denhoff (ICON; Dublin, Ireland) to discuss immunogenicity considerations for therapeutic proteins and the current analytical methodologies for detecting and characterizing anti-drug antibodies (ADAs). Lindsay shares some industry best practices for achieving high-quality ADA assays, as well as some of the advantages and limitations of singlicate ADA analysis compared with alternative techniques. We finish the interview with a look to the future where Lindsay discusses the emerging trends she's spotted in the field of immunogenicity and offers her predictions for how they may shape the future of therapeutic protein development.

ADA detection and characterization for immunogenicity testing: insights from ICON's Lindsay Denhoff

TASCAM DR-05

Carlon Fitzpatrick AI Summit

In this episode, we sit down with Megan Cooley, Associate Director of Bioanalytical Services at ICON (KS, USA), to explore the cutting-edge world of antibody-drug conjugate (ADC) quantitation using high-resolution mass spectrometry (HRMS). Megan delves into the capabilities of Triple Quadrupole and Time-of-Flight mass spectrometry, offering her expert insights into whether HRMS is essential for ADC PK studies. We also tackle the challenges and limitations of HRMS in ADC quantitation and discuss the potential for AI to create more specific and stable ADCs. Finally, Megan highlights ICON’s extensive experience with large molecule applications and their innovative approach to supporting complex LC–MS analyses.

The need for HRMS for quantitation of ADCs vs. QQQ: an interview with Megan Cooley

During the American Association of Pharmaceutical Scientists (AAPS) PharmSci 360 2024 conference, Bioanalysis Zone caught up with industry experts across numerous disciplines to discuss their involvement with AAPS and their research. In this interview, we spoke to Priyata Kalra about her talk on the use of GenAI within biomedicine.

The use of GenAI in bioanalysis: an interview with Priyata Kalra

Unveiling bioanalytical datasets for the successful development of ADCs

From sensitivity to selectivity: transforming mass spectrometry imaging with targeted solutions

In this episode of the STEM Tea podcast, AJ Hinton is joined by Alberto Vasquez, Academic Coordinator for the Center for Research in Educational Equity and Teaching (CREATE) at University of California, San Diego (CA, USA). Alberto is a biologist and educator, applying his lived experience to support students from underserved communities.

At CREATE, he spearheads the university’s efforts to increase STEM diversity, access and interest to disenfranchised communities throughout Southern California. In this episode, he offers advice for students to look beyond the mirror to find a mentor, how to advance equity by building strong relationships and why you should consider ‘different normals’.

STEM Tea | Supporting underserved communities through STEM mentorship

In this episode of the STEM Tea podcast, host AJ Hinton is joined by Clintoria Williams, Principal Investigator in the Kidney PathoPhysiology Research Group at Wright State University (OH, USA). Clintoria is a physiologist who is passionate about ‘lifting while climbing’ and is a co-founder of Black in Physiology. 

In this episode, Clintoria shares her journey in mentorship, sharing her tips for balancing your professional and personal life, and turning every experience into an opportunity for learning. She also shares highlights from last year’s Black in Physiology Week, an online and community event that celebrates achievements, and provides resources and support.

Contents:
●	Meet Clintoria Williams and her research: 0:00–2:02 
●	Promoting equity and inclusion in your space: 2:03–5:35
●	Getting the most out of mentoring for both mentors and mentees: 5:36–9:10
●	Balancing professional and personal commitments: 9:11–14:50
●	The birth and growth of Black in Physiology: 14:51–21:40
●	Championing Generation Now and preparing Generation Next: 21:41–26:16
●	Taking time to celebrate your strengths and turn weaknesses into opportunities: 26:17–28:43
●	Leading with the 'why' in research and communication: 28:44–31:08
●	Her journey towards being a mentor and a leader: 31:09–35:34
●	The power of bringing your true self everywhere you go: 35:35–38:00
●	Highlights from the most recent Black in Physiology Week and what's to come in the future: 38:01–42:59
●	What's next for Clintoria and her team of Zinc-sperts? 43:00–46:33
●	Clintoria's advice for her younger self: 46:34–47:46
●	Wine recommendations to stay fearless from Clintoria and AJ: 47:47–49:50



STEM Tea | Impact and sustainability in mentorship

In this episode of the STEM Tea podcast, host AJ Hinton is joined by Corey Reynolds, a Regional Medical Scientific Director in industry. Corey’s background ranges from academics to industry consulting; he applies these varied experiences to mentoring the next generation of Black scientists.

In this episode, Corey explains his current role as a medical science liaison (MSL) and how it varies from his experiences in academia. He also discusses the crucial need for more Black scientists in every stage of the scientific process, from student labs to clinical trials.

Contents 

●	Meet Corey 00:56–05:50
●	Understanding and securing a MSL role 05:51–09:11
●	The differences between MSL and academic roles 09:12–12:36
●	Dealing with uncertainty in an industry role 12:37–16:25
●	Mentoring Black students at different institutions 16:26–19:19
●	Black in Physiology as a place of sanctuary and mentorship 19:20–26:22
●	The impact of winning awards 26:23–28:49
●	Encouraging collaboration 28:50–32:29
●	Corey’s life outside of work 32:30–33:53
●	Reversing the downward trajectory of diversity in higher education 33:54–40:42
●	Championing increased clinical trial diversity 40:43–44:24

To learn more about Black in Physiology, listen to our podcast with founder Clintoria Williams. 


STEM Tea | Working together for better science and better opportunities

In this episode of the STEM Tea podcast, host AJ Hinton is joined by Haysetta Shuler, an academic consultant in industrial–organizational psychology (I–O psychology) and a DEI mentor. Haysetta is an experienced administrator at a Historically Black College and University (HBCU), and she is passionate about increasing the involvement of Black students in STEM.

In this episode, Haysetta discusses the value of I–O psychology and how students at HBCUs can be supported with hands-on experience, mentorship and network building. She also shares her tips for choosing a mentor or mentee and the value of saying less and listening more. 

Contents

●	Meet Haysetta 00:55–04:36
●	Spotting, seizing and maximizing opportunities 04:37–08:27
●	Generating evidence on the positive impacts of improving work–life balance 08:28–13:12
●	Preparing students at HBCUs for their next steps through Project Strengthen 13:13–24:37
●	The impact and remaining need for HBCUs 24:38–31:41
●	Engaging students and their families to secure the Black STEM pipeline 31:42–35:59
●	Being led by student needs when developing programs 36:00–40:03
●	Building a strong, sustainable and effective mentor–mentee relationship 40:04–47:07
●	What the future holds for STEM, I–O psychology and Project Strengthen 47:08–58:09


STEM Tea | Strengthening HBCUs

In this episode of the STEM Tea podcast, host AJ Hinton is joined by Luis A. Leyva (left), Associate Professor of Mathematics Education & STEM Higher Education in the Peabody College of Education & Human Development at Vanderbilt University (TN, USA). Luis is the Director of the Power, Resistance & Identity in STEM Education (PRISM) Research Lab. He describes how his research examines equity through pedagogy to disrupt racism and cisheteropatriarchy for broadening opportunities among historically marginalized populations in STEM.

In this episode, Luis discusses why amplifying marginalized experiences as knowledge sources is vital to challenge the status quo in STEM pedagogy, in addition to his perspectives about leadership as a researcher. He also shares his experiences of being an openly queer man of color as a form of resistance and the ethos of his equity-minded mentorship in the academy.

Contents

Meet Luis 00:41–02:54
The evolving definition of ‘STEM’ and variation of disciplinary cultures in the sciences 02:55–04:48
Expanding opportunities for historically marginalized groups in STEM through pedagogy 04:49–07:35
A glimpse into pedagogy in postsecondary calculus for STEM educational equity 07:36-12:25
Sustaining professional energy by nurturing aspects of personal life 12:26–16:30
The leadership challenges of making space for multiple voices whilst maintaining a collective vision 16:31–22:04
Passion for amplifying and validating experiences of intersectionality to foster a sense of belonging in STEM 22:05–25:25
Learning and growing alongside research mentees in equity-minded advising 25:26–29:54
Being out as a form of resistance, especially in STEM environments 29:55–33:13
Mentorship: paying it forward, facilitating connections and embracing equity 33:14–39:16
Closing 39:17–40:37

STEM Tea | Disrupting racism and cisheteropatriarchy through research, pedagogy and mentorship in STEM education

In this podcast, Director of GLP bioanalysis Lan Li reviews immunoassays versus mass spectrometry-based methods as tools for protein biomarker quantitation. Focusing specifically on mass spectrometry approaches, Lan explores various methodologies, such as top-down, middle-down and bottom-up, as well as the sample preparation procedures required. Lan concludes by reviewing the current challenges impacting protein biomarker quantification and how QPS Holdings, LLC is developing solutions to overcome them.

LC–MS/MS for quantitation of protein biomarkers

In this episode of the STEM Tea podcast, host AJ Hinton is joined by Brielle Ferguson, 
Assistant Professor in Genetics and Neurology at Harvard (MA, USA), and Angeline J. Dukes, Assistant Professor in the Department of Neuroscience at the University of Minnesota (MN, USA). Brielle is a researcher studying the biomarkers of cognitive dysfunction and Angeline shares her time between teaching and leading DEI initiatives at the University of Minnesota.

In this episode, Brielle and Angeline share why visibility is so important in representation and the valuable lessons they’ve learned about being a mentee and a mentor. They also discuss their journey towards launching Black in Neuro and what unmet needs remain.

Contents:

●	Meet Brielle Ferguson 01:00–02:04
●	Meet Angeline J. Dukes 02:05–03:14
●	Welcoming – and retaining – under-represented groups on campus 03:15–07:47
●	Prioritizing yourself to push for progress 07:48–12:56
●	The power of visibility in enabling authenticity 12:57–18:57
●	Why mentorship is a must, and the mentors who made a difference for Brielle and Angeline 18:58–27:08
●	The genesis and goals of Black in Neuro 27:09–34:28
●	Building community and addressing funding disparity 34:29–39:15


STEM Tea | Founding Black in Neuro

Join Tara Crawford-Parks, PhD, Director for Translational R&D and Product Enablement at DNA Genotek, to explore the potential of first void urine biomarkers in clinical diagnostics. Discover how this non-invasive sampling method is transforming HPV screening and opening new possibilities for early disease detection in oncology and infectious diseases. Learn about the science behind first void urine collection, its advantages over traditional sampling methods, and how innovative devices like the Colli-Pee™ are supporting more accessible healthcare for underserved populations worldwide.

First void urine: revolutionizing potential non-invasive biomarker collection

In this episode of the STEM Tea podcast, AJ Hinton is joined by Ulises Ricoy, who was the Director of Outreach Initiatives at the University of Arizona (AZ, USA) at the time of this recording. Ulises has championed low-cost approaches to basic neuroscience research as well as educated underrepresented groups in STEM academia.

In this episode, Ulises shares his journey to STEM, including how he developed his research and the value of diverse perspectives within that research. He also shares why not everyone is cut out to be a mentor and where to start with tackling representation in academia.

Since the recording, Ulises has pursued other opportunities outside of academia.

Contents: 

●	Meet Ulises and what drives his research 00:55–23:41
●	Why encouraging professional–personal balance can support diverse recruitment 23:42–43:00
●	What makes a mentor 43:01–55:38
●	Closing 55:39–56:46


STEM Tea | Being visible as an act of service

In this episode of the STEM Tea podcast, host AJ Hinton is joined by two science educators who are striving to instill a love of science and a sense of belonging within K–12 students through outreach initiatives and programs.
 
Yelena Janumyan is a postdoctoral fellow at the Collaborative for STEM Education and Outreach at Vanderbilt University (TN, USA). Since receiving her PhD, Yelena has taught science and math in schools; however, she is now turning her attention back to research. 

At the time of recording, Zachary Conley was also a postdoctoral fellow at the Collaborative for STEM Education and Outreach at Vanderbilt University. Before joining the Collaborative, he was working toward his PhD in biochemistry and molecular biology from the Baylor College of Medicine (TX, USA).

At the Collaborative, Yelena and Zachary were co-instructors for the Day of Discovery Program, an initiative for middle school students to participate in a research-based STEM curriculum one school day per week. 

Content
•	Introductions: 00:00–02:39
•	More about the Collaborative for STEM Education and Outreach and their Day of Discovery initiative: 02:40–05:27 
•	Why should we care about this initiative? 05:28–07:45
•	How do your science classes differ from standard classes? 07:46–09:34
•	How does this program support and inspire students? Plus, personal motivations for instructing this program: 09:35–12:46 
•	Expanding the horizon of career prospects, belonging and scientific exploration: 12:47–18:15
•	Navigating STEM careers, from mentors to research: 18:16–22:36
•	A lesson in leadership: 22:37–24:15
•	How can we improve education for all? 24:16–29:52 
•	How can scientists and teachers work together to improve STEM education? 29:53–32:27 
•	Closing thoughts: 32:28–36:27 


STEM Tea | Investing in our students

Exploring biomarker testing in clinical research

In this edition of NCTalks for ADHD Awareness Month, we speak to Edward Hallowell, a child and adult psychiatrist, leading ADHD authority, New York Times bestselling author, world-renowned speaker and the founder of The Hallowell Centers for Cognitive and Emotional Health, located across the USA. Dr Hallowell is a graduate of Harvard College (MA, USA) and Tulane University School of Medicine (LA, USA), and was a Harvard Medical School faculty member for 20 years. 

In this podcast we discuss the current outlook on ADHD and its diagnosis and treatment, as well as debates in the field and how the condition continues to shift in perception and treatment.

NCTalks for ADHD Awareness Month: an interview with Edward Hallowell

In this NCTalks podcast, Lauren Pulling, Editor of Neuro Central, is joined by Claude Wischik. Prof Wischik is board-certified in psychiatry and a professor of Old Age Psychiatry at the University of Aberdeen (UK). A pioneer in tau research, he discovered the tau protein compositional structure of Alzheimer’s tangles and established that it was possible to dissolve these tangles with pharmaceutically viable compounds that act as Tau Aggregation Inhibitors. Prof Wischik is also co-founder, chairman and chief executive of TauRx Therapeutics, which aims to develop new treatments for a range of neurodegenerative disorders, including Alzheimer’s disease.  In this interview, Prof Wischik discusses his 30 years’ experience in the field, the latest developments at TauRx, and what we can expect from tau research the next 10 years.

You can view more podcasts, plus the latest news and interviews with experts across neurology and neuroscience, at www.neuro-central.com.

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