Disorder: The Rare Film Festival

“You May Never Be More Moved at the Movies”

Disorder: The Rare Disease Film Festival is to be held in Boston in October. The festival is a new event with films from around the world that will feature the challenges of daily life while living with a rare disease. Many, though not all, of the films are documentaries. The filmmakers in attendance will have a question and answer session with the audience following the presentation of their films. In addition, rare disease researchers and patient advocates will also share their experiences.

Rare diseases pose a significant medical and economic burden for patients, their caregivers, their communities, and their healthcare systems. Although there are  an estimated 7,000 known rare diseases, that number does not reflect the countless number of family members, caregivers, and friends who watch a loved one struggle with health challenges. The challenges arise from lack of effective, or known, medication, lack of knowledge, lack of funding, lack of research. Disorder: The Rare Disease Film Festival hopes to change that by providing awareness of the challenges that the sufferers of rare diseases face.

The total number of Americans living with a rare disease is estimated to be between 25 and 30 million. This estimate shows that while an individual disease may be rare, the total number of people dealing with a rare disease is actually quite considerable. They are your friends, neighbors, family members, and co-workers and you might not know the daily obstacles they must manage.

Disorder: the Rare Disease Film Festival hopes to personalize the struggles of sufferers rare diseases by showing real people who face real adversity. It is the brainchild of two dads who have  children who face their own challenges and obstacles because of a rare disease. Bo Bigelow is the founder of MaineRare, and took to social media to help find a diagnosis for his daughter’s rare genetic disorder. Daniel Defabio has written about and has produced a documentary on Menkes Syndrome. Together, they aspire to bring awareness to rare disease by showcasing those who are faced with difficulties.

Disorder: the Rare Disease Film Festival hopes to increase awareness and provide a face for rare diseases. As we move together into the future, it is this awareness that will help spur new research and finding new medicines and new treatments. For more information on the festival, visit their website at:


Charlotte D.’s Story: The daily Challenge of Takayasu’s Arteritis

by Assunta Ginanneschi

This blog post is dedicated to Charlotte D.*, a neighbor of mine.

I met Charlotte few days after I’ve moved into my new apartment. I was wondering what the D button in the lift was and I pushed it. I realized it was Dach (roof, in German). As I got out of the lift I heard some music coming from upstairs and a voice calling “Who’s there? I cannot see”. Then suddenly she appeared, Charlotte, a fragile fine lady, around 60. She organized her ceramic atelier in the small room just below the roof. I presented myself as the new neighbor and she invited me to come along again for a cup of tea. During one of our chats I dared to ask Charlotte how she had become blind and she told me about her disease, Takayasu’s arteritis (TA). Continue reading

Join CheckOrphan in raising awareness of rare diseases around the world!

Join CheckOrphan in raising awareness of rare diseases around the world! 

Today, the last day in February, is Rare Disease Day 2016! This year the slogan is ‘Join us in making the voice of rare diseases heard’.

Smiling Girl with Hands Covered in Paint

Smiling Girl with Hands Covered in Paint — Image by © Royalty-Free/Corbis


People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation. Join the rare disease community and make the impact of rare diseases known.


Rare Disease Day: Get to Know Rare Disorders & Manage Them Better

by Assunta Ginanneschi

Recently Cathy, a friend of mine,  asked me “what do you mean by “rare diseases”?” That’s a very good question! Rare diseases are considered rare because not many people have them.

Actually the precise amount depends on the jurisdiction: the European Union, for example, defines a rare disease as one with a prevalence of no more than 50 people per 100,000 population, whereas the United States sets a numerical maximum of fewer than 200,000 people in this country.

Moreover, some conditions that initially are classified as rare eventually outgrow that categorization. Previously under-diagnosed diseases, Asperger’s syndrome for example, turned out to be much more common than originally thought. Continue reading

Noemi’s Story: Filamin C Myopathy and the Race Against Time

by Assunta Ginanneschi

This blog post tells the story of Noemi B.* and Filamin C myopathy. Noemi is a friend I met via a social networking site. Though we originally met to get practice speaking each other’s language, we soon became good friends.  We met quite regularly for travels around Europe or just shopping and a cup of coffee. It never occurred to me that she had a rare disease, let alone a debilitating one. Then, one day while hiking in the mountains, she suddenly got very tired. I couldn’t imagine how she could get so tired so quickly. That was when she told me she has a rare disease: Filamin C myopathy. I never heard of it before and actually it’s so rare that it wasn’t yet in the Checkorphan database, though thanks to Noemi it is now.

Filamin C myopathy is one of several types of myofibrillar myopathies, a class of muscular dystrophies that affects muscle function and causes weakness, as explained in this video. Continue reading

Luca’s Story: Living with Favism (G6PD deficiency)

by Assunta Ginanneschi

They are called “rare diseases”, but experience shows they are not that rare at all!

Personally, I know at least three people affected by rare diseases. In fact, on average, one of  every 10 to 12 people you know has a rare disease. As Jessie J might say, “Nobody’s  perfect”.

Which is to say, everybody has some peculiarity, or if you wish, everybody is rare!

This blog post will concern favism, also known as glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency). Let’s start with the story of my good friend Luca T.* I still remember his wedding…what a wonderful day!

Continue reading

OPKO’s GeneDx Study of More Than 10,000 Individuals Tested with Multigene NGS Hereditary Cancer Panel Reveals New Risks

MIAMI – OPKO Health, Inc., through its subsidiary GeneDx, today announced results from the largest published study to date of patients who received hereditary genetic testing with Next Generation Sequencing (NGS) cancer panels. The study, “Pathogenic and Likely Pathogenic Variant Prevalence among the First 10,000 Patients Referred for Next Generation Cancer Panel Testing,” was published in the December 2015 issue of Genetics in Medicine. GeneDx’s analysis of the data generated from the first 10,030 patients highlights the clinical utility of testing for multiple cancer genes to identify variants that would not have been identified through previously used testing methods. The patients, who were referred for testing between August, 2013 and October, 2014, underwent genetic testing for panels of genes associated with hereditary cancer.

While many patients were found to carry pathogenic or likely pathogenic variants in well-established, high-risk cancer genes, approximately half of the pathogenic variants identified were in genes with moderate risk and in recently identified cancer genes. Notably, among women with breast cancer, 50% of positive findings were in genes other than BRCA1 or BRCA2. Additionally, several individuals had pathogenic variants in high-risk genes that were somewhat unexpected, so clinical presentation alone might not have prompted testing for these genes

“We believe that molecular diagnostic testing for panels containing multiple genes are significantly more accurate in determine the heritable factors which increase the risk of cancer, and may permit more tailored treatment for cancer patients and screening for their family members,” said Sherri Bale, PhD, FACMG, Co-Founder and Managing Director of GeneDx. “Our experience, based on a large database of patients, demonstrates that multi-gene panels have the potential to identify pathogenic variants in genes that would not typically have been tested and most likely would have been missed. This study provides important empirical data for clinical decision-making when choosing between single genes and NGS cancer panel testing for a variety of cancers.”

About OPKO Health, Inc.:

OPKO Health, Inc. is a diversified healthcare company that seeks to establish industry-leading positions in large, rapidly growing markets. Our diagnostics business includes Bio-Reference Laboratories, the nation’s third-largest clinical laboratory with a core genetic testing business and a 420-person sales force to drive growth and leverage new products, including the 4Kscore® prostate cancer test and the Claros®1 in-office immunoassay platform. Our pharmaceutical business features Reade™, a treatment for SHPT in stage 3-4 CKD patients with vitamin D insufficiency (March 29, 2016 PDUFA date) and VARUBI™ for chemotherapy-induced nausea and vomiting (oral formulation launched by partner Tesaro, IV formulation in Phase 3). Our biologics business includes hGH-CTP, a once-weekly human growth hormone injection (in Phase 3 and partnered with Pfizer), and a long-acting Factor VIIa drug for hemophilia (entering Phase 2a). We also have production and distribution assets worldwide, multiple strategic investments and an active business development strategy. More information is available at http://www.opko.com.

GeneDx and its parent company BioReference Laboratories Inc. are members of the OPKO Health, Inc. (NYSE: OPK) group of companies. GeneDx is a world leader in Genomics with an acknowledged expertise in rare and ultra rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx performs more clinical Whole Exome Sequencing tests than any other diagnostic lab in the world. The GeneDx mission is to make clinical testing affordable and available to people with rare genetic conditions and their families. GeneDx provides testing to patients and their families in more than 55 countries. To learn more, please visit http://www.genedx.com.


OPKO Health, Inc.
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Tara Mackay, 305-575-4100
Investor Relations
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Terry Rooney, 212-223-0689
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Nanotech drug delivery shows promise for improved melanoma treatment

PORTLAND, Ore. – Researchers have developed a new three-drug delivery system for cancer treatment, especially metastatic melanoma, the deadliest form of skin cancer – and shown that the system may have particular value with cancers like this that often spread through the lymphatic system.

The new technology takes advantage of nanoparticles that can migrate to, and increase the effectiveness of an attack on cancer cells in the body’s lymph nodes. This can also reduce the development of drug resistance and the broader toxicity often associated with this type of chemotherapy.

The findings were made with laboratory animals, and just published in the Journal of Controlled Release by researchers from the College of Pharmacy at Oregon State University. The work was supported by an OSU startup fund, and a provisional patent has been granted for this technology.

“Melanoma can be a very difficult cancer to treat because it often metastasizes and travels through the lymphatic system,” said Adam Alani, an assistant professor in the Oregon State University/Oregon Health & Science University College of Pharmacy, and lead author on this research.

“Melanoma has a high mortality rate because the lymph nodes tend to act as a haven for cancer cells, and allow them to resist treatment through chemotherapy,” he said.

The new OSU research, however, was able to combine three anti-cancer drugs at the same time into a nanoparticle delivery system. After injection, these nanoparticles primarily migrated to lymph nodes, acted in a synergistic manner that was more powerful than any one drug could be separately, and were able to maximize their impact in those locations while minimizing the development of drug resistance and overall toxicity.

Laboratory mice treated with this approach all survived. The therapy caused no apparent negative effects, and at least one type of the nanoparticles migrated effectively to distant lymph nodes, where the drugs significantly reduced the number of melanoma cells.

More research with animals, experiments with more aggressive forms of cancer, and eventually human clinical trials will still be needed for any treatment is available for use.

This could become an important advance in the treatment of any type of cancer that tends to move through the lymphatic system, Alani said. This includes melanoma, but also breast, head and neck, prostate, pancreatic, lung and gastric cancers.

Up to 80 percent of melanomas metastasize through the lymphatic system, the researchers said in their report, and the tumor cells even secrete growth factors to further streamline their progress. The enlarged lymphatic vessels “act as a freeway for the metastatic cells to gain access and spread to distal lymph nodes and organs,” they wrote in the study.

The major drawback of existing therapies, they said, is the inability to deliver therapeutic concentrations of drugs to the lymphatic system without creating systemic toxicity. Use of drugs one at a time also tends to breed resistance to them.

The nanoparticles used to carry these cancer drugs are stable, increase the drug circulation time, and can deliver multiple drugs in a single step to the desired target, the research showed. They offer a novel therapeutic option for effective melanoma treatment, the scientists wrote in their conclusion.

Other collaborators on this research included Kingston University in London and Pacific University in Hillsboro, Ore.

Adam Alani

Waving White Flag, Celladon Merges With Rare Disease Co. Eiger Bio

Xconomy San Diego — A slew of companies have gone public amidst gene therapy’s recent renaissance, and technological advances have gotten these types of treatments closer than they’ve ever been to impacting healthcare in the U.S.

But today, Celladon offered a reminder of how quickly it can all go wrong in gene therapy. The San Diego biotech and its once promising treatment for a genetic form of heart failure will now effectively disappear, thanks to a merger with a privately held company called Eiger BioPharmaceuticals.

Celladon (NASDAQ: CLDN) has agreed to a deal with Eiger that, if approved by shareholders, would see Eiger’s stockholders become the majority owners of the combined company. The entity would carry forward the Eiger name, and the Palto Alto, CA-based company’s strategic plan to develop treatments for a variety of rare diseases like lymphedema, pulmonary arterial hypertension, and hepatitis D. All of Celladon’s directors and executives will resign from their current positions once the deal is done. The new company will be run by Eiger’s team, which is lead by president and CEO David Cory, and be based in the Bay Area.

This is the type of deal that often happens after a publicly held biotech waves the white flag. In January, for instance, Regado Biosciences of Basking Ridge, NJ, merged with Tobira Therapeutics after safety concerns doomed its potential anticoagulant drug. The combined company is known as Tobira, is one third owned by Regado’s old shareholders, and is now developing drugs for inflammatory and liver diseases. A few years ago, a pain drug developer called Zalicus failed a big trial, and merged with a biosimilars company called Epirus Biopharmaceuticals. Targacept, after a string of clinical failures, merged with Catalyst Biosciences in August. These deals give shareholders of the failed biotech a chance to recoup some value after things go wrong—and a quick way for a private company to tap into the public markets.

Now here’s Celladon, which was a high-flying gene therapy company not too long ago. For those unfamiliar, gene therapy is a way of shuttling genetic instructions into the body via a virus, offering the potential for a long-lasting or even permanent fix for a genetic disease. That promise has tantalized scientists for decades, but as with any new science, the field has gone through a number of ups and downs trying to figure out the best way to safely and effectively deliver these treatments.

The progress of companies like UniQure (NASDAQ: QURE), which has the only approved gene therapy in the world, Spark Therapeutics (NASDAQ: ONCE), which could become the first to win FDA approval of a gene therapy next year, and Bluebird Bio (NASDAQ: BLUE)—not to mention academic groups pursuing treatments for hemophilia and other diseases—has helped bring gene therapy back from the depths. A number of gene therapy companies have gone public over the past few years, and Celladon was one of them. It had the financial support of a number of corporate venture arms, like Pfizer Ventures and Novartis Venture Funds, became the first company to win a “breakthrough therapy” designation from the FDA for a gene therapy, and raised $44 million in an IPO in January 2014.

But despite the progress, there have been some setbacks in gene therapy as well, and Celladon unfortunately became one of the prime examples. Its gene therapy, Mydicar, a proposed treatment for patients with severe heart failure, failed miserably in a mid-stage study in April. Shares immediately plummeted 80 percent, and Celladon was forced to begin layoffs and search for strategic alternatives. Celladon’s shares had closed as high as $27.26 apiece in March, leading up to the data release. They’ve been worth just over $1 over the past several months during the trial fallout.

Those shares roughly doubled this morning following the announcement of the Eiger deal. Through it, a syndicate of investors new to Eiger—RA Capital Management, Sabby Management, Sphera Global Healthcare, Perceptive Advisors, and Monashee Capital Partners—-has teamed with longtime Eiger backers ViVo Capital and InterWest Partners to put $39.5 million into the new company. Eiger will have over $60 million in cash after the merger is completed, though the deal has to be approved by Celladon’s shareholders first. The cash should be enough to get Eiger through Phase 2 trials for at least two of its four programs by late 2016.

The company’s lead drug, lonafarnib (Sarasar), was originally developed by Schering Plough (now owned by Merck) and tested for a variety of cancers. Eiger licensed the drug from Merck, and is now developing it as a treatment for hepatitis D.

Celladon will issue about 85 million new shares to Eiger shareholders and the investors providing the financing. That’ll leave the new syndicate with 33 percent of the company, Eiger stockholders with 45 percent, and current Celladon equity holders with 22 percent.