Amy Grover is a familiar face to the rare disease community. She spent 10 years at Global Genes before joining Catalyst Pharmaceuticals. At Global Genes she learned about rare diseases and the challenges they create for people. In her job now, she is working to bridge the gap between biopharma and the patients and families affected diseases like Lambert-Eaton Myasthenic Syndrome (LEMS). Sounds like a familiar mission.

Amy moved from the patient side to industry much like I moved from industry to the patient world. We both were surprised by a few things that we saw as we passed through the looking glass between the two. We both recognize that one of the first steps to bridging this gap is mutual respect. If we work on this, the benefits of partnering will flow.

I really enjoyed sharing insights looking at the problem from both directions.

www.catlystpharma.com

Imagine you are one of only 10 people in the world with a disease. People with ultra-rare conditions have little hope of attracting research funding to find treatments to work for them. The investments just don’t make sense to for-profit businesses.

Our guest, Dr. Stanley Crooke, MD, PHD is leading an effort to change this. After an illustrious career in pharma and founding the RNA Therapy company Ionis Pharmaceuticals, he is blazing a new trail. He has founded n-Lorem, a non-profit organization that works with families affected by these ultrarare conditions. N-Lorem works to find, develop, and provide new RNA treatments for free, for life.

RNA therapy, which includes anti-sense oligonucleotides, has been a dream for researchers for decades. Dr. Crooke has been at the forefront of this work. Now that years of labor are starting to bear fruit, he is looking to a new chapter. A way to give back. The question has changed from, “Can We?” to, “How can we not?”

https://www.nlorem.org/ https://www.ionispharma.com/

That is how our latest guest on Improbable Developments reflected on her chosen profession, bioethics. It is a field where scientists do not ask the questions about whether they can run an experiment or clinical study, but whether they should. Until recently, most people would not even know the field existed let alone give a good example of where it made a difference.

But COVID has changed that.

• Who should be vaccinated first?
• How do we ensure equity in distributing the vaccine?
• If we run low on oxygen or ICU beds, who do we treat?
• Should we expand access to experimental or repurposed drugs before they have been tested?

These are ethical questions that require considering multiple dimensions and perspectives. They are difficult questions. They are very human questions.

Tune in to learn how Alison Bateman-House was led into this challenging field and the work she is doing today on policy, clinical trial design, and ethics consulting. Her career path is fascinating to say the least.

https://med.nyu.edu/faculty/alison-bateman-house

https://www.youtube.com/watch?v=WM8bTdBs-cw To see how MTV inspired Alison to think about bioethics as a career.

https://med.nyu.edu/departments-institutes/population-health/divisions-sections-centers/medical-ethics/research/working-group-compassionate-use-preapproval-access

https://med.nyu.edu/departments-institutes/population-health/divisions-sections-centers/medical-ethics/research/working-group-pediatric-gene-therapy-medical-ethics

In the last of our Emerging Researchers Series, I speak with Shandra Trantham, a Ph.D. candidate at the University of Florida. Shandra was destined for a life in science. As a young child, science and math were her favorite subjects. She and I share the childhood dream of becoming an astronaut. I never followed my dream, but Shandra didn’t even have the choice.

When she was 9 years old, she began to lose her balance and things got progressively worse. When she was 12, she was diagnosed with Friedreich’s Ataxia. Our regular listeners may be familiar with Friedreich’s Ataxia because we have talked to other’s about the rare disorder (Kyle Bryant in episode 2 way back in 2019, and Layne Rodden in episode 013). For Shandra, her diagnosis gave her a focus on science, a reason to study, and a purpose.

Her story is informative and inspiring.

You can contact Shandra at shandra.trantham@gmail.com

Plese support us a https://patreon.com/salemoaks

In the latest episode of our Emerging Researchers Series, we talk to Emily McIntosh (@MCINTOSE) a recent Ph.D. from the University of Guelph in Guelph, Ontario. Living less than an hour from Toronto, she is a big Leafs fan (that is the Maple Leafs for all you non-hockey listeners.)

Emily earned her doctorate in biomechanics after studying age-related muscle loss and how that influences balance and mobility. As she says, it seems so intuitive, but she wanted to know why this happens. Emily began her work with elderly people as part of a summer research project just before her senior year in undergrad. She went on to get her master’s and eventually started her Ph.D. studies. And that’s when the story got quite a bit more interesting.

Emily had gotten a piercing headache that went away in a day or so. It was bad enough that she was worried but not so bad to call the doctor. She attributed it to dehydration and stress. When it happened again, she did call a doctor and was referred to a neurologist who found what he thought was a benign tumor in her brain.

After getting a somewhat different and scarier second opinion, Emily used her well-earned scientific skills to start learning as much about this type of tumor as possible. It was this initiative and her ability to think clinically about her own condition that may have saved her life.

You’ve just got to listen to hear what happened.

You can reach Emily on LinkedIn (https://www.linkedin.com/in/mcinsite) and via e-mail (EMCINT03@UOGuelph.ca)

Please help support Improbable Developments at www.patreon.com/salemoaks

We continue our Emerging Researchers series with an interview with Robin Powers, a student just starting her master’s degree work.

Robin is an enigma. She has a wealth of energy and a very fast-moving mind. She has dreams and aspirations that will change the world. Yet she has yet to find the right experiences and coaches to refine her approach. She most certainly has not come from a place of privilege.

Robin is a patient who has been managing and advocating for her own Ehlers-Danlos Syndrome for 17 years now, including identifying the issue and securing the genetic testing required to confirm the diagnosis. She has presented at conferences, been a PCORI Ambassador, and volunteered with other rare disease organizations. She has done all this independently without the luxury of programs or an organization paving the way.

Robin talks about how she came to Buffalo State College and designed her own degree program, Biochemical Pharmacology of Rare Diseases. She also discusses her work to earn a degree in patient advocacy and public policy.

The goal of our Emerging Researchers series is to highlight people like Robin who are full of potential but lacking the experience our other guests may have. These younger people have fresh ideas and the freedom to be bold. For Robin, her life depends on it.

We are excited to introduce our Emerging Researcher Series. Over the next 4 months, we will be talking to some people who are at various stages in their education. Each of them is excited about the research they are doing now and are looking forward to promising futures. We thought it would be interesting to hear what motivated them to pursue science and what they have learned so far. We also thought this would be a great way to showcase some diamonds in the rough.

Our first emerging researcher is Layne Rodden who is studying for her Ph.D. at the University of Oklahoma Health Science Center under the mentorship of Dr. Sanjay Bidichandani. Layne is currently looking at the contribution of DNA-methylation to the silencing of the frataxin gene in Friedreich’s Ataxia. Layne has a unique ability to communicate about the science she is doing to non-scientists.

Layne hopes to earn her Ph.D. in early 2021 and begin looking for her first “real job.” She has a curious mind and is open to many different possibilities. Hearing her talk about this crossroads will throw you right back to those times when you were about to take the leap into a new chapter.

If you would like to connect with Layne, you can reach her at layne-rodden@ouhsc.edu. You should follow her on LinkedIn linkedin.com/in/layne-rodden-57877b74

Sound Design: Jake Tompkins

Graphics: Heather McCullen

We first met Dr. Ethan Perlstein on our other podcast Raising Rare. Dr. Perlstein is a biotechnology entrepreneur.

Dr. Perlstein has nearly two decades of experience in biomedical research and over five years in biotech company formation and executive leadership. He holds a doctorate in molecular and cell biology from Harvard University and was a Lewis-Sigler Fellow at Princeton University from 2007-2012.

In 2014, Dr. Perlstein founded Perlara PBC, the first biotech public benefit corporation with a legal mandate to co-develop drugs in collaboration with families and communities affected by genetic diseases. During that time, Dr. Perlstein served as a member of the Medical and Scientific Advisory Board of Global Genes, the leading rare disease community-led advocacy organization. Prior to becoming a biotech entrepreneur, Dr. Perlstein conducted and led cross-disciplinary academic research in genetics, cell biology, neuroscience, pharmacology, and drug discovery.

In 2019, Ethan joined the Christopher & Dana Reeve Foundation as their first Chief Scientific Officer, but due to unexpected COVID-related financial constraints, his team was let go in Spring 2020.

Dr. Perlstein currently advises https://cureGPX4.org and a few other small foundations. His story is one of a relentless pursuit of ways to help families affected by rare disease.

https://www.perlara.com/