Podcasts

podcasts page features a feed of medical news and interview podcast series, including DocTalk, Lungcast, Derm Discussions, Rare Disease Report, and Heart Trials.

In this hallmark episode, Ashley and Jacob Wiley shared the story of how they rushed their 15-month old daughter Aislynn to Cincinnati Children's Hospital Medical Center in January, where Amelle Shillington, MD, is a clinical geneticist. 

The child was admitted to the emergency deparment (ED) while unconscious, due to extremely low blood sugar. After various tests and examinations, Shillington solved the mystery of Aislynn's diagnosis and explained the methods that led her to the diagnosis of TANGO2-related metabolic encephalopathy and arrhythmias. 

The rare genetic disorder is only documented in 70 cases worldwide, and is caused by variants in the TANGO2 gene. Individuals with the condition can experience episodes of acute illness called metabolic crises, which is what Aislynn was experiencing.

Jacob shared the moment that he knew something was was seriously wrong when he went to lift his daughter out of her crib and she was completely limp.

"It's hard to say it sometimes, but, the way I explained to the doctors is, if I had to imagine what it felt like to pick up my dead daughter, that's exactly what it felt like that day," he said.

"One of the other things that actually is a big issue for kids who have this disorder, this TANGO2 diagnosis, is arrhythmias of the heart. And, so kids who come in can have arrhythmias that can be deadly," Shillington explained. "And once we knew that, this is what we were working with, we were paying very close attention to her heart, having the electrophysiology cardiologists weigh in, having those medications available right at her bedside, watching her heart very closely."

Currently, Aislynn is back home with her family, where they're adjusting to a "new normal" according to Ashley. Due to the brain damage Aislynn suffered during the crisis, she's had to start relearning how to do almost everything.

"We are hopeful that she makes improvements, and today she is starting to move her head a little bit more, she's starting to kind of track you when you're getting close to her. Nothing huge," Ashley explained, "but any, like, little thing she does is a pretty big improvement to us."

Because of the rarity of the disease, the Wiley's don't know what the future holds for Aislynn. And even though Aislynn's case is the first TANGO2 diagnosis at Cincinnati Children's Hospital Medical Center, Shillington explained that she and her team were able to implement a plan for her care when they reached the diagnosis.

"At the time, there was 30 cases, published in the literature," Shillington said. "Since that time, and since we've connected with the experts, they have now about 70 cases, which still makes it pretty rare. But, the people who have this diagnosis really want to know, learn as much as they can and share as much as they can, because they want to help their kids."

The TANGO2 gene is responsible for optimizing mitochondrial energy. So, when Shillington and her colleagues, including a team from Texas Children's Hospital, were presented with an unconscious Aislynn, their working diagnosis was to view it as a "primary or secondary mitochondrial disorder in some ways." 

"There are other mitochondrial disorders, and there are other kind of inborn errors of metabolism of fatty acid oxidation" she explained. "That's another category of disorders, and so, those look kind of similar where kids come and they're metabolically down."

After the diagnosis, the providers continued with their plan of care but were finally able to trace it to the specific disrupted gene. However, because there's not a comprehensive understanding of exactly what the gene does, a team at Baylor is investigating it further, Shillington said.

"Because if we understand exactly what's wrong with the energy metabolism that might help us treat it better," she said. 

 for the TANGO2 Research Foundation in hopes of progressing treatment and therapies that will help patients and their families. 

“Our goal is to raise 1 million dollars for the TANGO2 research foundation" Ashley stated. "We understand that sounds like a lot of money, but our idea is that if we could reach 1 million people and they each donated just $1, we could reach out goal.”

Follow the link if you'd like to participate.

This episode features a conversation with Dr. Amelle Shillington and Jacob and Ashley Wiley after Shillington diagnosed the extremely rare genetic disease that's afflicted Aislynn Wiley, and only 69 other documented cases worldwide. 

The Rare Disease Report Podcast: TANGO2

There are no blood tests, no biomarkers to analyze a patient for relapsing polychondritis. This very rare autoimmune disease is extremely difficult to diagnose. Unfortunately, if this condition isn't identified early and treated effectively, a patient can suffer from irreversible damage and long-term complications. 

® invited Joseph Ahearn, MD, Chair, Autoimmunity Institute, 

, to focus attention on Autoimmune Disease Awareness Month by discussing relapsing polychondritis (RP).

After talking about the recent partnership of AHN and the Relapsing Polychondritis Foundation, and the impact that their initiative will have on the future of patients with RP, Ahearn is optimistic, depite the current gaps and obstacles within the field. 

"A common thread through all of what we're saying is caring for patients with rare disease, whether it's autoimmune or otherwise," he said, "it's a combination of art and science. And we don't have enough science, and we don't have enough artists. But if we can make those discoveries and come up with a scientific test, it's going to take much less artistic expertise."

"If we can, for example, do a biopsy, like a liquid biopsy, and then we say, okay, this is what you have, this is what we're going to do," he continued, "we'll get there."

In honor of Autoimmune Disease Awareness Month, expert Dr. Joe Ahearn and advocate Michael Linn discuss relapsing polychondritis. 

The Rare Disease Report Podcast: Relapsing Polychondritis

® is excited to kickoff a new season of the 

 podcast series. Each month, the podcast will focus on a different 

 by featuring an expert in the field to discuss the complexities of that condition.

The objective of this podcast is to provide a platform for expert healthcare professionals and advocates to share their knowledge, tell their story, and augment the discussion surrounding diseases that have—for too long—fallen beneath the radar.

Whether you're a primary care provider looking to expand your diagnostic approach, or you’re just interested in getting a better assessment of the rare disease landscape, there's a place for you. 

AMN Affects Patients in the Prime of Their Life

For the first episode of the podcast's return, Karen Kozarsky, PhD, Chief Scientific Officer and Co-founder of SwanBio Therapeutics, shared her extensive knowledge on adrenomyeloneuropathy (AMN).

Andrenomyeloneuropathy is a form of x-linked adrenoleukodystrophy (ALD), which causes a disruption to the myelin sheath of the nerves. This occurs because of an inherited mutation of the ABCD1 gene. 

This disease is included in the newborn screening panel in the US and in parts of Europe, according to Kozarsky. Now, more than half of all newborns are being tested for the disease, so they can be diagnosed as carrying the gene before they start presenting symptoms. 

Typically, adrenomyeloneuropathy affects men and symptoms begin presenting in their twenties. Kozarsky said that for many patients, its changed the kind of work they can do in addition to having a substantial impact on their social and personal lives. 

Within about 10-20 years of the onset, men are usually using walking aids or wheelchairs. So, by 30-40 years of age their gait and balance are affected so much that falls become a concern. Not only are the patients' mobility inhibited but they can experience severe pain. 

"It's also often accompanied by incontinence, so both bowel and bladder," Kozarsky said. "And that's something that for me personally, was something I hadn't thought as deeply about until I started going to conferences and talking to patients, or hearing them talk to us."

"For me, it was personally an education about how much it affects your life," she continued. "Things as little as everywhere you go, you need to know where a bathroom is, to the incontinence being so severe that they don't really want to go out and see people at all."

Gene Therapy Candidate gets IND Clearance

If a patient isn't diagnosed as a newborn, it can take some time to get a true diagnosis. With symptoms generally presenting in their twenties, that's just the beginning of the journey. 

"They're often misdiagnosed initially as having multiple sclerosis," Kozarsky said, "because it looks very similar initially, and it can be some time to figure out what is actually affecting them."

Kozarsky explained that currently, there are no treatments on the market for this inherited disorder. However, SwanBio Therapeutics announced earlier this month that their investigational new drug (IND) application for SBT101 was cleared by the US Food and Drug Administration (FDA). 

According to Kozarsky, SwanBio's gene therapy candidate, SBT101, would deliver a normal copy of the defective gene to the patient's tissues. In the case of adrenomyeloneuropathy, this would be the spinal tissue. 

"With the gene therapy," Kozarsky said, "what we're trying to do is really treat the root cause of the disease."

The Rare Disease Report Podcast returns! Our first episode features Karen Kozarsky, PhD, an expert on gene therapy and adrenomyelonueropathy.

The Rare Disease Report Podcast: Adrenomyeloneuropathy

The disease refers to a group of disorders: Type A, B, C1, and C2.

Type A is the most severe form; Type C is the most common. 

Lipids may accumulate in the brain, spleen, liver, lungs, and bone marrow.

The manifestations are diverse; a host of neurological symptoms may occur. 

Patients may develop NP, especially NPC, any time in their life. However, the disease usually manifests early in life. 

The disease is panethnic but has a higher rate among populations with greater consanguinity. 

Historically, Niemann-Pick was discovered as a disease back in 1900 when a pediatrician noticed a child with an enlarged liver, enlarged spleen, and neurologic symptoms.

Most patients will unfortunately succumb to the disease before the age of 20. But for those who present with symptoms in their 20s, or sometimes up to 50 or 60 years old, those patients can live for decades with varying amounts of disability.

Diagnosis is becoming easier when clinicians suspect Niemann-Pick disease. [The process of sending for genetics to confirm Niemann-Pick] is becoming more common.

Patients tend to be treated symptomatically.

 is group of rare disorders affecting the proper storage of fats across organs. According to the United States National Institute of Neurologic Disorders and Stroke, the condition occurs when “harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow.”

There are various types of disease, known as Niemann-Pick A, B, and C. Type C is further divided into C1, the most common type, and C2. 

What makes this disease more difficult to diagnose and treat is its extreme heterogeneity in symptoms and prognosis. While individuals with type A typically die in infancy, individuals with type B may live a longer lifespan requiring supportive care. The life expectancy of type C is more variable. Even more, the disease may not be diagnosed until adulthood.

, Sharon Hrynkow, PhD, Chief Scientific Officer and Senior VP for Medical Affairs at Cyclo Therapeutics, discussed the various manifestations of Niemann-Pick—with a particular focus on Niemann-Pick type C. She spoke in detail on the daily challenges faced by patients, highlighting in particular the neurological symptoms of the condition.

Hyrnkow further discussed the clinical trial program of a new agent developed by Cylco Therapeutics for Niemann-Pick C and expressed hope that new therapeutics may someday and finally be available for this underserved patient population.

Listen to The Rare Disease Report on your favorite podcast platforms, including 

Sharon Hrynkow, PhD, joins the Rare Disease Report to discuss the ultra rare and heterogenous lysosomal storage disorder. 

The Rare Disease Report Podcast: Niemann-Pick Disease

US prevalence is ~1 in 2500, or 130,000 individuals.

There is no cure for the disease; patients may be managed with supportive therapy.

It is rarely life-threatening, and muscles for vital functions are not typically implicated.

Common early symptoms include weakness or paralysis of the foot and lower leg muscles.

Nerve pain may range from mild to severe.

Some patients may need foot/leg braces or other orthopedic devices.

It is very interesting for everybody to know that this disease has been described over 100 years ago. But to date, no drug has been approved.

I am glad to be part of a treatment team that involves rehab therapists, physiatrists, child neurologists, foot and ankle surgeons, podiatrists, and people whose expertise is in designing ankle braces that can stabilize a dropped foot.

It is not uncommon that patients take medication to treat many of the symptoms — including pain, fatigue, depression. 

Unless there is a clear family history, in many cases it is underdiagnosed.

Having a medication for CMT will dramatically increase recognition of patients by doctors.

 refers to a group of hereditary and degenerative disorders characterized by damaged nerves in the arms and legs. Although there are currently no approved treatments for this condition, patients typically do not have lowered life expectancy.

Of course, quality of life can be negatively impacted, especially if disease onset occurs during adolescence and early adulthood.

The nerve damage can cause weakness in the legs, ankles, and feet, and individuals may experience paralysis in any of their limbs. Tripping and falling are frequent, as are deformities of the feet — often a source of embarrassment and anxiety.

 Florian Thomas, MD, of Hackensack University Medical Center & Hackensack Meridian School of Medicine, and Adrian Hepner, MD, Chief Medical Officer of Pharnext, explained the basic facts about the disease, highlighting the patient experience with CMT.

They talked about how it is often managed and what that care team may look like.

Central to this discussion was the research and treatment landscape, with particular emphasis on their ongoing Phase III study and the impact that a potential FDA approval can have on the lives of hopeful patients.

Thomas and Hepner also mentioned the need for greater advocacy and how increased treatment options can tie into higher awareness levels for this disease.

Listen to The Rare Disease Report on your favorite podcast platforms, including

Florian Thomas, MD, and Adrian Hepner, MD, cover the basics of the degenerative nerve disorder.

The Rare Disease Report Podcast: Charcot-Marie-Tooth Disease

Prevalence estimated to be 1-2/100,000 births

The disorder is passed on through an autosomal recessive fashion

Affected individuals are typically born blind at birth

Electroretinography (ERG) can be utilized in diagnosis

Absence or reduction of the electrical activity in the retina is an important marker of the disease 

These children typically present with roving eyes. They tend not to fix on a parent and have delayed visual maturation. In the case of Leber's Congenital Amaurosis, they have progressive visual loss. 

Parental enthusiam for intervention is very high in this disease because each parent knows that they contributed to the problem. Although, I try not to emphasize any of those things because nobody can really control what the genes are that their children get.

Very few [patients] are actually on the wall chart in terms of their visual acuity by the time they are 20.

The only way to really treat this disease is to treat the mutation 

Patient with Leber’s Congenital Amaurosis (LCA)—a 

 inherited eye disorder that primarily affects the retina—have few to no treatment options, and the condition itself can certainly be burdensome for patient and families.

The most common symptoms associated with the recessive genetic disorder is severe visual impairment and blindness. Patients may also experience photophobia, strabismus, enophthalmos, and extreme farsightedness among other ocular symptoms.

According to the National Organization for Rare Disorders (NORD), “at least 27 genes are implicated” in the monogenic disease. The most common form of the disease is LCA 10, caused by mutations in the CEP290 gene. 

features Stephen Russell, MD, of the Institute for Vision Research at the University of Iowa. He discussed recent data presented at this year’s annual 

Association for Research in Vision and Ophthalmology (ARVO

) meeting that support the therapeutic potential of investigational oligonucleotide sepofarsen for LCA 10.

Russel further explained the causes behind LCA and LCA 10, the quality of life in affected patients, current screening practices, as well as trajectories in research for this domain.

He offered insight into treatment strategies for these patients and reflected on the future of care for those living with LCA 10 and other mutations.

Stephen Russell, MD, talks about promising new data that has the potential to provide a breakthrough for treating the most common mutation of the rare genetic eye disease.

The Rare Disease Report Podcast: Leber's Congenital Amaurosis 

CF can affect the lungs, liver, pancreas, kidney, and intenstines, to name a few.

It affects primary caucasian populations, although not exclusively.

Universal newborn screening has allowed CF to be diagnosed upon birth.

Common symptoms include, but are not limited to, high salt concentrations in sweat; persistent coughing, wheezing, and shortness of breath; frequent lung infections; poor growth or weight gain.

Both parents must pass on their defective CFTR gene for their offspring to have CF.

Although treatments allow for management of the disease, there is no known cure for it. 

'Agnese recognized that children who had been diagnosed with cystic fibrosis appeared to be more susceptible to heat exhaustion during the summers and periods of heat waves.

It wasn't until 1989 that the CF gene was eventually discovered, and since that time, there have been more than 1000 different mutations that lead to cystic fibrosis that have been identified within that gene.

There are a lot of nutritional therapies that we start right away at the time of diagnosis.

Right now, the most highly effective CFTR modulator is a treatment that is known as Trikafta [

It really takes a whole team of individuals in order to provide the best quality care for somebody with cystic fibrosis. 

The US Centers for Disease Control and Prevention (CDC) places the US prevalence of

Cystic fibrosis is a genetic disorder caused by a mutation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Patients with CF typically experience a build-up of mucus, which can to blocking of the airwards as well as increased likelihood for infection. They also may have difficulty with proper digestion and absorption of nutrients.

As such, malnutrition, growth deficiency, and lung damage (among other adverse outcomes) are marked characteristics of the disease.

In honor of Cystic Fibrosis Awareness Month, Jordana Hoppe, MD, a pediatric pulmonologist based at Children’s Hospital Colorado, joined 

 to discuss the disease, its history, pathophysiology, related challenges, prevalence, and therapeutic options.

She talked about diagnostic practices, including the impact of universal newborn screening, as well as the state of research for CF. She also discussed her own recent work with CFTR modulators in pediatric populations.

Hoppe has been involved in numerous publications regarding both CF and pulmonary populations. Currently, she teaches pediatric pulmonology at the University of Colorado School of Medicine and Children’s Hospital Colorado and is a member of the American Academy of Pediatrics and American Thoracic Society.

Jordana Hoppe, MD, discusses the burden of cystic fibrosis on infants and children.

The Rare Disease Report Podcast: Cystic Fibrosis

Estimated US prevalence is between 150,000 and 200,000 individuals. 

There are limited treatment options, and there is currently no cure for it.

It is considered chronic if the disease is active for 2-5 years.

Roughly 5-10% of patients will have advanced sarcoidosis. Symptoms may include fatigue, pain, cognitive failure, small fiber neuropathy, inability or difficulty in exercising, and other comorbidities. 

We don't know what causes it. The theory is that you get exposed to something in the environment that triggers an abnormal response in the immune system.

It's historically been a difficult disease to manage because it can present in so many different ways.


Some patients will get diagnosed as an incidental finding.

One of the tricky parts about sarcoidosis is that while certainly the disease can affect your quality of life, a lot of the medications we use can also affect quality of life as well.

Sarcoidosis is often known as 'the great mimicker'.

April is Sarcoidosis Awareness Month, an opportunity to reflect on the challenges and opportunities for optimizing the diagnosis and care of patients with the systemic inflammatory disease.

Patients with sarcoidosis may present with granulomas on various organs of the body, such as the lungs, the heart, or on the skin. While treatment may be necessary in severe or life-threatening cases, most affected indivdiuals may not even have to take medications for it.

In fact, it can be up to the discretion of the clinicians to determine whether treatment is even necessary. Of course, that doesn’t mean it should be wholly neglected. Careful monitoring and management of sarcoidosis is warranted, and clinicians should be aware of the specific organs affected.

, pulmonologist Ennis James, MD, professor and Program Director of the Susan Pearlstine Sarcoidosis Center of Excellence at the Medical University of South Carolina, spoke on the particular uncertainties clouding sarcoidosis, namely its origin and cause.

James has largely focused on improving sarcoidosis care through clinical practice and research — thus, he offered to advice to both practitioners and patients on how best to manage the disease and seek support.

He touched on the disease’s history, challenges for sarcoidosis patients, decisions healthcare providers must make, diagnostic and screening practices, as well as directions for future research. 

Foundation for Sarcoidosis Research (FSR)

 as a member of their Scientific Advisory Board. He is also on the steering committee for their Clinical Studies Network.

To listen to more rare disease reports, be sure to 

 to the Rare Disease Report Podcast on iTunes and Spotify.

Ennis James, MD, discusses the challenges and lingering questions associated with sarcoidosis 

The Rare Disease Report Podcast: Sarcoidosis

Occurs in ~1 in 10,000 individuals, according to recent newborn screening studies

Caused by a mutation of the α-galactosidase A (GLA) gene

Can affect major organs, such as the kidney, heart, brain, and skin

Symptoms appear at early age; worsens with age progression

Symptoms don't present until age 30 or older 

Males are typically more severely affected than females

Main treatment options include enzyme replacement therapy and oral chaperone therapy; no cure exists

It doesn't spare anybody — as far as race.

It's getting to the point where we really are running out of excuses [...] that we should not test.

There are still unmet needs as it relates to cardiac outcomes and CNS outcomes.

One of the great things is that there's a lot of research. One of the problems with a lot of research going on all at once is that there's a limited amount of patients. 

If you are already working with patients with Fabry disease, you need to know that the field is changing very very quickly.

“Imagine every cell in your body has this buildup of trash that has been building up since birth,” explained nephrologist Eric Wallace, MD, Director of Telehealth, University of Alabama at Birmingham, in regard to Anderson-Fabry disease.

“Well, now, later on in life, the organs don’t work as well,” he continued.

Resulting from mutations of the α-galactosidase A (GLA) gene, Fabry disease is marked by the impairment of lysosome function. As a result, particular compounds and intracellular structures are unable to be digested or be broken down.

The big-picture result of this disorder is pain as well as potential nephrological, cardiological, neurological, and dermatological complications.

As a multisystemic disorder, Fabry can increase risk for an enlarged heart, kidney disease, Alzheimer’s disease, gastrointestinal involvement, angiokeratomas—to name just a few symptoms.

In this episode of the Rare Disease Report podcast, Wallace discussed the cause of Fabry disease, which populations or types of patients are most likely to be diagnosed with the genetic disorder, current screening methods and gaps, and any ongoing research.

He provided essential perspective as a nephrologist with hands-on experience working with such patients.

Wallace has advocated for a stronger focus on maintaining and treating kidney health, thus calling for ensuring regular monitoring as part of the standard of care among Fabry patients.

 are proud to present the second installment of a new podcast series that will provide a platform for experts and advocates to share their knowledge, tell their story, and augment the discussion surrounding diseases that have—for too long—fallen beneath the radar.

Eric Wallace, MD, discusses Anderson-Fabry disease and the difficulties associated with screening, testing, and treatment. 

The Rare Disease Report Podcast: Fabry Disease

Approximately 100,000 Americans are affected

Occurs in 1 out of every 365 Black or African-American births

Occurs in 1 out of every 16,300 Hispanic-American births

HbSS is the most severe form of sickle cell disease, called sickle cell anemia

Average life-span for males with HbSS is 42 years old

Average life-span for females with HbSS is 48 years old

Pain crises are the most common presentations of the disease

"Historically, we used to wait for problems to happen before children with sickle cell disease were diagnosed."

"It's just striking to me that we're still doing supportive care for pain and acute chest syndrome."

"You don't have to have a sickle gene in order to have a child with sickle cell disease."

"There are so many therapies in the pipeline that will be able to benefit individuals with sickle cell disease."

"Every organ is involved in complications both short-term and long-term in individuals with sickle cell disease."

“When I think about sickle cell disease, I can’t help but think about sickle cell in a historic perspective,” said Kim Smith-Whitley, MD,  Executive Vice President-Elect of Global Blood Therapeutics, in the inaugural episode of the Rare Disease Report podcast.

The history of sickle cell disease is the history of healthcare disparity—as it primarily affects individuals of color and historically under-resourced populations.

Even more, the sickle cell story involves the push for increased universal screening, improved therapeutic options, and perhaps more pertinently, the need to develop effective ways to manage pain crises.

To understand sickle cell care in the United States is to appreciate the diagnostic and treatment milestones, while acknowledging the remaining—and urgent—gaps that need to be addressed by healthcare professionals and researchers.

Drawing from her clinical experiences as a pediatric hematologist, Smith-Whitley painted a detailed and comprehensive portrait of the reality of sickle cell care, the toll the disease can take on families, as well as the current and future state of research.

She emphasized the importance of trust between patients, their families, and their care team, which can ultimately prove foundational to improving patient quality of life.

 are proud to present the first installment of a new podcast series that will provide a platform for experts and advocates to share their knowledge, tell their story, and augment the discussion surrounding diseases that have—for too long—fallen beneath the radar.

In this first episode, Kim Smith-Whitley, MD, discusses the history, presentations, and research status of sickle cell disease.

The Rare Disease Report Podcast: Sickle Cell Disease

Hosted by HCPLive editors, the monthly series tackles the intricate details of the 6,000-plus known rare diseases, featuring an expert guest, one disease at a time.

Rare Disease Report