rare disease

The Pros and Cons of Expanded Carrier Screening with Mary Norton, UCSF

Mary Norton is a perinatologist and clinical geneticist at UCSF who says that in the age when we are diagnosing ever more rare diseases, adding to the carrier screening panel can be a good thing, but it’s complicated.

But it can be a good thing.

But it’s complicated.

Traditionally carrier screening was limited to ethnic groups, Mary tells us at the beginning of today’s interview, but has now been expanded to what’s called universal screening. The question for OB/Gyns like her is calling the limits on the panel. And it’s not just docs, labs or scientists who are savvy as to the latest conditions studied. Today’s patients expect the full treatment. Explaining that more is not always better can be a tough sell.

End-of-Decade Review, What's Next? with Nathan and Laura

It's our special look back over the entire decade which has Nathan and Laura firing on all fours. Not only do we discover their genomic highlights of the last ten years--ups and downs-- they also pull out their special "future glasses" and come up with a provocative list for the next ten. You don't want to miss this.

But first, we do cover December and that kerfuffle over the George Church dating app. And the genomics of income--really? Did you go for that?

Theral, Nathan, and Laura for an extended broadcast. Happy 2020!

Cara O'Neill of the Cure Sanfilippo Foundation Tells Her Story

You’re a mother, and life is typical. You’re also a pediatrician. Then one day you hear that your daughter is autistic. OK. Then you get the news that, no, it’s not autism but a very rare disease called Sanfilippo Syndrome. From your training as a pediatrician you quickly think back and remember the MPS rare diseases, but nothing else prepares you for what’s ahead.

Meet today’s guest, Cara O’Neill, who shortly after she learned the real diagnosis of her daughter, Eliza, together with her husband Glenn founded the Cure Sanfilippo Foundation out of their house by launching a viral video. Today the organization includes fifty families and funds research into treatments for the disease, including a gene therapy. Their daughter was patient number one.

Not only does the foundation work on a cure and other meaningful therapies, such as a program based on regenerative medicine, but they are also working to improve diagnosis. Currently diagnostic tests for Sanfilippo are not in any newborn screening panels. This is partly because the tests are just being developed, but there is activism work to do on the political front as well. States are not allowing the tests that are developed be included because there are no approved therapies.

“Requiring a therapy to institute newborn screening is ridiculous,” says Cara.

She knows many families who have three children by the time they know about their first child having the disease because of the problem of diagnostic delay.

“Maybe their first child gets diagnosed at age five. Then they have two more children and find out, gosh, they are affected too. They could have had more informed family planning decisions available to them had they known earlier.”

Connecting the Dots for a Community of Rare Disease Patients: Terri Klein, MPS Society

The MPS Society is a rare organization. Not just because it is an umbrella for the rare diseases that have in common lysosomal storage malfunction. But because it is one of the largest rare disease organizations in the world.

Terri Klein is the CEO leading the MPS Society. She says the group has over three thousand members on their roster. This brings some strength and resources in an area where low numbers intensifies an uphill battle.

Her job, she says, is to find those researchers out there working on the various MPS diseases--Hunter’s, Sanfillippo syndrome and about a dozen others--and make sure any and all science toward understanding, therapy and cures gets shared and developed. She "connects the dots" between research, funding, trial experts, parents and patients. Beyond the science and medicine, Terri says about half of her budget goes to care of patients.

So what is the state of existing therapies for these diseases now, and how close are we today to gene editing and gene therapy cures?

Terri has been instrumental in the creation of ConnectMPS, a very successful disease registry for MPS patients. What are her thoughts on how to make rare disease registers more impactful?

With More Tools in the Box, Lon Cardon Says We’re in a New Age of Drug Development

“I think the field has just really come to life over the last five or seven years. We’ve got all this sequence data. We’ve got the population data. We’ve got gene editing. I’ve been at this thirty plus years, and we haven’t had a culmination of technology and data like this before. I think everyone has to be excited in some way or other.”

Lon Cardon has lived through a few ups and downs in our field and remembers well the days when mention of his own area, statistical genetics, was the quickest way to kill a dinner conversation. The hype cycle has come full swing, and his days of pessimism have turned to full on optimism. Theral takes a couple stabs at it, but Lon’s giddiness is hard won.

Surely there are challenges, Theral argues. Have we become drunk on sequencing, as a recent guest commented? And what are the practical challenges Lon faces with big data? Aren’t there real hurdles?

We had some challenges of our own with Theral’s mic malfunctioning. But we're optimistic--the backup mic worked. We come in at around 23 1/2 minutes.

Presenting BioMarin’s new Chief Scientific Officer.

Father of Child with Rare Disease Says Science Equals Medicine

Matt Might came knocking on the door of genomic medicine out of pure necessity. After a four year diagnostic odyssey that led them to Duke University, Matt and his wife, Cristina, finally found out through exome sequencing that their son, Bertrand, was suffering from a rare disease known as NGLY1 deficiency. That was three years ago.

In today’s interview, we focus on what Matt did after he received this diagnosis. Through various means, mostly involving the internet, he has been able to connect with the parents of thirty seven other children with the same rare disease. As the group of patients grows, so do the options for studying the disease and for developing a therapy.

Since the president launched his Precision Medicine Initiative, we've heard from a new round of critics that genomics research just isn’t paying off. Matt’s story contradicts these criticisms.

In fact, he comes right out and says he’s on a campaign "to end the phrase, ‘non actionable.’” To Matt--who’s career has been in computer engineering--science is medicine. Matt’s connection with the rare disease community was kicked off with a personal blog he wrote that went viral, Hunting Down My Son’s Killer. Matt says with Google, blogging, and social media parents everywhere can do science. 

Prior to recording this interview, Matt was at the White House for a couple weeks helping out with the president’s new initiative. What is his take on that, and, as an outsider, what is the number one thing he would change about biomedical research?

Rare Disease Horizons, Part IV: Biobanking and Disease Registries with Liz Horn


Liz Horn, PhD, Patient Advocate Bio and Contact Info

Listen (8:22) What is biobanking?

Listen (4:05) Sample collection and the diagnostic odyssey

Listen (5:45) Security and privacy concerns

Listen (2:46) The bigger picture

Patients with rare diseases are constantly pestered with sample collection. Blood and tissue samples are required for many different kinds of testing, and often the specialist clinicians or researchers do not connect and share with each other. Biobanks are an emerging solution for aggregating patient samples for research. As Dr. Liz Horn says in this interview, biobanks and disease registries have become an invaluable resource for both patients and those treating and studying them.



For more info, get the free eBook from Rare Genomics Institute

"Rare Disease Horizons: The Hope of New Research and Technology" is underwritten by the Rare Genomics Institute.


Rare Disease Horizons: The Hope of New Research and Technology, Part II: Other Omics with Mike Snyder, Stanford

Guest: Mike Snyder, PhD, Director, Center for Genomics & Personalized Medicine, Stanford

Bio and Contact Info

Listen (6:30) What are the important omics other than genomics?

Listen (6:22) Now studying hundreds of millions of markers to get the complete picture

Listen (3:30) How can a patient benefit from this research?

Listen (1:38) What is the biggest research challenge?

Listen (3:23) Other omics already having an impact on cancer treatment

Genomics is often just the beginning to understanding any disease. There are many other biological mechanisms which are part of understanding disease pathways. Dr. Mike Snyder is perhaps the most biologically tracked man in the world. As part of a research project, he is regularly combing through his own biology, looking at over hundreds of millions of biomarkers on an ongoing basis. This includes his DNA, his proteins, his epigenome, and his microbiome among other ‘omes. Dr. Snyder gives an overview of the various omics which come in to play when understanding the complexity of the human body and disease.


For more info, get the free eBook from Rare Genomics Institute

"Rare Disease Horizons: The Hope of New Research and Technology" is underwritten by the Rare Genomics Institute.




Rare Disease Horizons: The Hope of New Research and Technology, Part I: Genomics with Dr. Eric Topol

Guests: Eric Topol, MD, Cardiologist, Genetic Researcher, and Technologist

Bio and Contact Info

Listen (4:55) DNA sequencing has come a long way since the Human Genome Project

Listen (5:01) How should patients know if they should get their genome sequenced?

Listen (3:29) What are the challenges to getting your genome sequenced and interpreted?

Listen (4:15) What hope does genomics offer to those with rare disease?

We start the series with a show about genomics, because this is often where a diagnosis begins--looking at the patient’s genome for causal mutations. Dr. Topol is a highly sought after expert who helps families with patients of a rare disease at the renowned Scripps Institute in La Jolla, CA. He’s also the author of a book, The Creative Destruction of Medicine, which describes the impact of new technologies such as DNA sequencing and mobile smartphones to change forever the practice of medicine.


For more info, get the free eBook from Rare Genomics Institute

"Rare Disease Horizons: The Hope of New Research and Technology" is underwritten by the Rare Genomics Institute.




Rare Disease Horizons: The Hope of New Research and Technology: Introduction with Jimmy Lin

Guest: C. Jimmy Lin, M.D., Ph.D, Founder of the Rare Genomics Institute (RGI)

Bio and Contact Info

There are an estimated 7,000 rare diseases. In the U.S., a rare disease is defined as one affecting less that 200,000 people, or 1 in 1,500 of the American population. Rare diseases are often referred to as neglected diseases because over the years they have not received the same amount of research as a common disease like cancer.

However, this is changing. In 1983 the U.S. Congress passed the Orphan Drug Act to facilitate the development and commercialization of drugs to treat rare diseases. As part of the Act and subsequent amendments, these drugs receive special exclusivity rights and an easier path to approval at the FDA. And in fact over the past five years more of the large pharmaceutical companies which in the past neglected these diseases have taken them on, producing new drugs that are highly profitable.

In addition, basic understanding of the human body has deepened with the advancement of new technologies, such as DNA sequencing. Many rare diseases are monogenic, and therefore much easier to identify and research than a disease such as diabetes which is caused by many factors. More and more, parents with children of rare diseases are learning about the advancement in basic biological science and the new tools used by scientists. These informed parents are pushing their doctors to come up with answers.

This is a series of interviews, each based on a different area of research or technology which is creating new avenues and promise for those with a rare disease. 

Part 1: Genomics: Eric Topol, Director, Scripps Translational Science Institute

Part 2: Proteomics, Metabolomics, and Beyond: Mike Snyder, Director, Stanford Center for Genomics and Personalized Medicine

Part 3: Stem Cells: Larry Goldstein, Director, UCSD Stem Cell Program

Part 4: Using Animal Models: Cat Lutz, GRS Repository Director, Jackson Laboratory

Part 5: Biobanking and Disease Registries: Liz Horn, Patient Advocate

Part 6: Drug Repurposing: Barry Bunin, CEO, Collaborative Drug Discovery

The first step for any patient is to receive a proper diagnosis. This can be quite an odyssey for those with a rare disease.  We explore how genomics and other 'omics, such as proteomics and metabolomics are leading researchers to be able to diagnose and better understand a rare disease or syndrome. And we look into various new therapies from stem cell transplants to gene therapies which are offering hope to those with a diagnosis. Finally we pursue the topic of drug repurposing, or finding new uses for drugs that were abandoned in other trials or that are already approved and on the market which may be useful with a newly diagnosed disease.


            Free eBook published by Rare Genomics Institute

It is now estimated that 30% of children with a rare disease do not live past the age of five. But this number is changing. Never has there been more promise for parents and children who are affected by a rare disease. We hope this series will get this message of promise out to many who are searching for answers, that it will give understanding on some complex topics, and lead to healthier happier lives.

"Rare Disease Horizons: The Hope of New Research and Technology" is underwritten by the Rare Genomics Institute.


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