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

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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.

Contacts

OPKO Health, Inc.
Carly Erickson, 202-600-4558
cerickson@mww.com
or
Tara Mackay, 305-575-4100
Investor Relations
or
Media
Rooney & Associates
Terry Rooney, 212-223-0689
trooney@rooneyco.com
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Marion Janic, 212-223-4017
mjanic@rooneyco.com
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Investors
LHA
Anne Marie Fields, 212-838-3777
afields@lhai.com
or
Bruce Voss, 310-691-7100
bvoss@lhai.com