rare disease


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

Guest:

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.

                    

Father/Scientist Finds Gene Responsible for Daughter's Unknown Syndrome: Hugh Rienhoff Talks Personal Genomics

Podcast brought to you by: Ingenuity Variant Analysis - Identify causal variants from human sequencing data in just hours.

Guest:

Hugh Rienhoff, MD, Founder of MyDaughtersDNA.org Bio and Contact Info

Listen (6:44) Gene linked to daughter's unknown syndrome found

Listen (10:33) DNA sequencing now a first line test

Listen (1:42) What is your ultimate goal in this quest?

Listen (6:40) The father vs the scientist

Listen (4:56) Rewards and frustrations

Listen (4:37) How would you characterize your relationship with DNA?

Today's show is a bit of a scoop. Hugh Reinhoff is a biotech entrepreneur and physician. He is also a parent who has been on a special odyssey to find the genetic cause of a so far undiagnosed syndrome in his daughter Beatrice. Hugh made headlines around the world in 2007 when he set up a site MyDaughtersDNA.org to connect with other parents on similar odysseys. Over the years, we've read about Hugh in various articles and books as a lone parent/scientist up in his attic poring over the millions and millions of nucleotides making up his young daughter's genome.

What we didn't know when we contacted Hugh for the interview, was that he has now found the gene he finds "largely if not solely responsible" for Beatrice's syndrome. And his results have not yet been published. Hugh talks about how far DNA sequencing has come in the last six years and agrees that it is now a "first line test." As a geneticist and physician, Rienhoff was in a special position when it became evident his daughter Beatrice was obviously different. He admits in today's show that sometimes the father has been at odds with his role as scientist and physician. What has he learned as a father as a result of this unique odyssey, what has been the biggest frustration along the way, and what is his ultimate goal? Hugh's story is that of a pioneer in the Wild West of Personal Genomics.

Rare Disease Science Challenge - call to action!

If you or a loved one is unlucky enough to be affected by a rare disease then it can be a continued uphill struggle. Your doctor will likely never have seen a case before which means you suffer with symptoms while awaiting diagnosis, and this can sometimes take years. Even when an accurate diagnosis is reached there may be few treatment options; the pharmaceutical companies just aren’t interested in developing drugs to treat such a small market. For the majority (>95%) of the 7000 rare diseases there is no FDA approved therapy.



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