Pharma groups spy opportunity in rare diseases
Worldwide sales of orphan drugs are forecast to total $262bn by 2026 (Source: FT.com - Drugs and Healthcare)
Source: FT.com - Drugs and Healthcare - June 15, 2018 Category: Pharmaceuticals Source Type: news

Five-year-old boy's rash turned out to be rare disease from a tick bite
Mason McNair, five, from LaGrange, Georiga, developed a rash after being bitten by a tick that turned out to be Rocky Mountain spotted fever, a a bacterial infection that can lead to death. (Source: the Mail online | Health)
Source: the Mail online | Health - June 14, 2018 Category: Consumer Health News Source Type: news

Dad hopes to raise awareness for daughter ’s rare disease
Father's Day has a special significance for one dad whose daughter has been diagnosed with a rare condition called cystinosis (Source: Health News: CBSNews.com)
Source: Health News: CBSNews.com - June 13, 2018 Category: Consumer Health News Source Type: news

US college student, 20, left paralyzed while on vacation in Spain
Kara Dunn, 20, from Tempe, Arizona, was left paralyzed in Spain last week when she was diagnosed with a rare disease in which the immune system attacks the nervous system. (Source: the Mail online | Health)
Source: the Mail online | Health - June 12, 2018 Category: Consumer Health News Source Type: news

Pooling resources to make better diagnoses of rare diseases
By pooling patient data and applying state-of-the art genetic methods, EU-funded research is improving the diagnosis of rare diseases that affect the lives of tens of millions of EU citizens. (Source: EUROPA - Research Information Centre)
Source: EUROPA - Research Information Centre - June 12, 2018 Category: Research Source Type: news

In the Loop: Rare disease takes 12 lives and inspires family members to find a cure
Neurologists at Mayo Clinic were able to put a name to the mystery disease that had taken the lives of a dozen of Rachelle Dixon's relatives, and now Rachelle can help others with the condition. First it took her great-grandfather, then her grandfather. And when Rachelle Dixon was a teenager, it came for her aunt [...] (Source: News from Mayo Clinic)
Source: News from Mayo Clinic - June 12, 2018 Category: Databases & Libraries Source Type: news

When Medicine Is A Business, Rare Disease Patients Suffer
A diagnosis like mine is only the beginning of an endless racetrack. (Source: Science - The Huffington Post)
Source: Science - The Huffington Post - June 8, 2018 Category: Science Source Type: news

Idera Pharmaceuticals presents clinical data from the ILLUMINATE-204 trial of the combination of tilsotolimod and ipilimumab for anti-PD-1 refractory metastatic melanoma at the 2018 American Society of Clinical Oncology (ASCO) Annual Meeting
(Tonic Life Communications USA) Idera Pharmaceuticals Inc., a clinical-stage biopharmaceutical company developing toll-like receptor and RNA therapeutics for patients with rare cancers and rare diseases, announced results from the ongoing ILLUMINATE-204 trial investigating tilsotolimod, Idera's intratumorally-delivered Toll-like Receptor 9 agonist, in combination with ipilimumab (Yervoy ® ). Current data show an overall response rate of 38 percent following treatment with the combination of tilsotolimod and ipilimumab. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 4, 2018 Category: International Medicine & Public Health Source Type: news

Do-it-all veteran, mother-of-three and singer who was suddenly paralyzed by mysterious rare disease
Deanna Wheeler, 31, found herself almost instantaneously paralyzed last month, first from the waist down, then completely, by the rare autoimmune disorder, Guillain-Barre Syndrome. (Source: the Mail online | Health)
Source: the Mail online | Health - June 1, 2018 Category: Consumer Health News Source Type: news

Why this biotech exec broke down on a conference call over company's new rare-disease drug
Critics targeted the company's spending over 10 years of research and development on a drug that treats a rare, brain-damaging inherited disease. It was an emotional moment last week when the drug won approval. (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - May 31, 2018 Category: American Health Authors: Ron Leuty Source Type: news

Why this biotech exec broke down on a conference call over company's new rare-disease drug
Critics targeted the company's spending over 10 years of research and development on a drug that treats a rare, brain-damaging inherited disease. It was an emotional moment last week when the drug won approval. (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - May 31, 2018 Category: Biotechnology Authors: Ron Leuty Source Type: news

Rare disease drug startup that raised $64 million a few weeks ago now seeks $115 million IPO
Eidos Therapeutics has just one experimental drug in a rare, fatal genetic disease, but it has moved the drug into the clinic quickly. (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - May 26, 2018 Category: Biotechnology Authors: Ron Leuty Source Type: news

Rare disease drug startup that raised $64 million a few weeks ago now seeks $115 million IPO
Eidos Therapeutics has just one experimental drug in a rare, fatal genetic disease, but it has moved the drug into the clinic quickly. (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - May 26, 2018 Category: Pharmaceuticals Authors: Ron Leuty Source Type: news

FDA OKs Novel Enzyme Therapy for Rare Disease Phenylketonuria FDA OKs Novel Enzyme Therapy for Rare Disease Phenylketonuria
Pegvaliase-pqpz (Palynziq) helps address a significant, unmet need in phenylketonuria (PKA) patients whose blood levels of PKA cannot be controlled with current treatment options, the FDA says.FDA Approvals (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - May 25, 2018 Category: Consumer Health News Tags: Diabetes & Endocrinology News Source Type: news

A rare, brain-damaging disease faces a new foe: a $267K-a-year drug from a Bay Area stalwart
This North Bay rare disease drug developer won its seventh regulatory approval, a potential replacement for one of its oldest (and most financially successful) drugs. (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - May 25, 2018 Category: American Health Authors: Ron Leuty Source Type: news

New Treatment, Palynziq (Pegvaliase-pqpz), Approved for Rare Disease PKU
FRIDAY, May 25, 2018 -- Palynziq (pegvaliase-pqpz) has been approved by the U.S. Food and Drug Administration to treat phenylketonuria, commonly called PKU. People with the rare yet serious inherited disorder can't break down an amino acid called... (Source: Drugs.com - Daily MedNews)
Source: Drugs.com - Daily MedNews - May 25, 2018 Category: General Medicine Source Type: news

Bruce Green, D.Ph, Internationally Recognized Pharmacometrics Expert,...
NDA Partners Chairman Carl Peck, MD announced today that Bruce Green, D.Ph, an internationally recognized expert in the field of pharmacometrics, rare diseases, pediatric drug development, and dosing...(PRWeb May 23, 2018)Read the full story at http://www.prweb.com/releases/2018/05/prweb15499347.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - May 23, 2018 Category: Pharmaceuticals Source Type: news

Bruce Green, D.Ph, Internationally Recognized Pharmacometrics Expert,...
NDA Partners Chairman Carl Peck, MD announced today that Bruce Green, D.Ph, an internationally recognized expert in the field of pharmacometrics, rare diseases, pediatric drug development, and dosing...(PRWeb May 23, 2018)Read the full story at https://www.prweb.com/releases/2018/05/prweb15499347.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - May 23, 2018 Category: Pharmaceuticals Source Type: news

The NIH Undiagnosed Diseases Program celebrates 10 years of solving medical mysteries
The Undiagnosed Diseases Program (UDP), an initiative launched by NHGRI, the National Institutes of Health (NIH) Clinical Center and the NIH Office of Rare Disease Research, is celebrating 10 years of tackling the most challenging medical cases. The program kicked off in May 2008 with the mission of offering patients with perplexing conditions the hope of a diagnosis and the therapeutic treatments. Its unique strategy applies advanced genomic medicine technologies and multi-disciplinary medical expertise to unsolved health conditions. Happy 10th Birthday, UDP! (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 23, 2018 Category: Genetics & Stem Cells Source Type: news

New York Half-Marathon runner who was struck down with sudden paralysis
Marie Sander, 30, from Lindenhurst, New York, was left temporarily paralyzed after she was diagnosed with a rare disease in which the immune system attacks your nervous system. (Source: the Mail online | Health)
Source: the Mail online | Health - May 22, 2018 Category: Consumer Health News Source Type: news

Horror ordeal of runner, 30, who was struck down with sudden paralysis
Marie Sander, 30, from Lindenhurst, New York, was left temporarily paralyzed after she was diagnosed with a rare disease in which the immune system attacks your nervous system. (Source: the Mail online | Health)
Source: the Mail online | Health - May 22, 2018 Category: Consumer Health News Source Type: news

ICYMI: Orphan drug development brings unique challenges
A newreport from the Tufts Center for the Study of Drug Development finds that it takes 2.3 years, or 18 percent, longer to develop an orphan drug compared with medicines to treat more common conditions. Although clinical trials for orphan diseases – defined as affecting fewer than 200,000 people in the U.S. – tend to be smaller than other studies and orphan drugs often qualify for expedited review pathways, the reality is that development of these medicines poses many unique challenges in addition to the usual high hurdles of drug develop ment. According to Tufts, the most common challenges include: (Source: The Catalyst)
Source: The Catalyst - May 21, 2018 Category: Pharmaceuticals Tags: Rare Diseases Drug Development Source Type: news

Real-World Evidence from McKesson Supports First-Ever FDA Approval for Metastatic Merkel Cell Carcinoma Drug
The Woodlands, Texas (May 16, 2018) — A powerful, real-world evidence study designed by McKesson Specialty Health for its biopharma partner played a key role in the Food and Drug Administration’s (FDA) approval for first-line indication for a rare disease. Recently “Merkel Cell Carcinoma Observation... (Source: McKesson News)
Source: McKesson News - May 16, 2018 Category: Information Technology Source Type: news

Use of Systematic Reviews Affects Newborn Screening Policy
TUESDAY, May 15, 2018 -- Use of systematic review methodology is associated with reduced likelihood of screening for rare diseases using the newborn blood spot test being recommended, according to a meta-analysis published online May 9 in The... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - May 15, 2018 Category: Pharmaceuticals Source Type: news

Sanofi Genzyme to lay off 95 workers at Framingham manufacturing site
Sanofi Genzyme, the state ’s largest life sciences employer, has cut around 95 manufacturing jobs at a facility in Framingham, a spokesperson for the company said Wednesday. Genzyme, the rare disease division of French pharmaceutical giant Sanofi, told the Business Journal the move was part of a broader effort to streamli ne manufacturing operations. The division previously announced in February that it would lay off 130 workers at another manufacturing plant in Allston. Sanofi Genzyme had around… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - May 9, 2018 Category: Pharmaceuticals Authors: Max Stendahl Source Type: news

Sanofi Genzyme to lay off 95 workers at Framingham manufacturing site
Sanofi Genzyme, the state ’s largest life sciences employer, has cut around 95 manufacturing jobs at a facility in Framingham, a spokesperson for the company said Wednesday. Genzyme, the rare disease division of French pharmaceutical giant Sanofi, told the Business Journal the move was part of a broader effort to streamli ne manufacturing operations. The division previously announced in February that it would lay off 130 workers at another manufacturing plant in Allston. Sanofi Genzyme had around… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - May 9, 2018 Category: Biotechnology Authors: Max Stendahl Source Type: news

Takeda aims to boost rare disease profile with Shire deal, says R & D chief
Takeda ’s $62 billion acquisition of Shire plc on Tuesday would accelerate the Japanese drugmaker’s transformation into a global pharmaceutical giant by significantly expanding its pipeline of rare disease treatments, a top executive based in Cambridge said in an interview. Andy Plump, Takeda’s chie f medical and scientific officer, said the deal was partly driven by the company’s desire to expand further into the market for so-called orphan drugs. They target small groups of patients —… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - May 8, 2018 Category: American Health Authors: Max Stendahl Source Type: news

Precision medicine approvals and rare disease treatment incentives evaluated
(Brigham and Women's Hospital) The senior author of two separate articles published in Health Affairs on May 7, Kesselheim, members of the PORTAL research group and co-authors, examine the fast approvals of precision medicines in one paper while evaluating the impact of the Orphan Drug Act's seven-year market exclusivity in the other. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 7, 2018 Category: International Medicine & Public Health Source Type: news

Medical transport program targeting rural areas and rare diseases takes flight
Angel Flight East, a Montgomery County nonprofit organization that provides free air transportation to health care facilities for patients in need, has established a new program called Rural& Rare Reach. The goal of the new program to broaden access to medical care for individuals living in rural areas, as well as patients with cancer or rare diseases. The AmerisourceBergen Foundation, the charitable arm of wholesale pharmaceutical distribution and service company AmerisourceBergen of Valley Forg e… (Source: bizjournals.com Health Care News Headlines)
Source: bizjournals.com Health Care News Headlines - May 4, 2018 Category: Health Management Authors: John George Source Type: news

Medical transport program targeting rural areas and rare diseases takes flight
Angel Flight East, a Montgomery County nonprofit organization that provides free air transportation to health care facilities for patients in need, has established a new program called Rural& Rare Reach. The goal of the new program to broaden access to medical care for individuals living in rural areas, as well as patients with cancer or rare diseases. The AmerisourceBergen Foundation, the charitable arm of wholesale pharmaceutical distribution and service company AmerisourceBergen of Valley Forg e… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - May 4, 2018 Category: Biotechnology Authors: John George Source Type: news

WATCH: 4-year-old becomes 'real-life superhero' to his baby brothers
Michael, 4, was a perfect match to be a bone marrow donor for his infant twin brothers, who were born with a rare disease. (Source: ABC News: Health)
Source: ABC News: Health - May 4, 2018 Category: Consumer Health News Tags: GMA Source Type: news

Tanzania:Rare Disease Hits Zanzibar Isles
[New Times] Dar es Salaam -Authorities in Zanzibar are struggling to control the spread of an outbreak dubbed "Chikungunya", a serious infectious disease caused by a mosquito-related virus said to have hit the isles earlier this year. (Source: AllAfrica News: Health and Medicine)
Source: AllAfrica News: Health and Medicine - May 4, 2018 Category: African Health Source Type: news

Annual Epidemiological Report for 2015: Typhoid and Paratyphoid Fever
European Union, European Centre for Disease Prevention and Control. 04/30/2018 This six-page report is based on data for 2015 retrieved from the European Surveillance System (TESSy). Typhoid and paratyphoid fever are relatively rare diseases in the European Union/European Economic Area (EU/EEA), mainly acquired while traveling to countries outside of the EU/EEA, particularly in south Asia. In 2015, 18 EU/EEA countries reported a total of 845 confirmed cases. Nine countries reported zero cases. The report discusses methods, epidemiology, threats description for 2015, and public health implications. (PDF) (Source: Disaster L...
Source: Disaster Lit: Resource Guide for Disaster Medicine and Public Health - May 3, 2018 Category: International Medicine & Public Health Authors: The U.S. National Library of Medicine Source Type: news

For Expensive New Drugs, Biopharma Should Make Money-Back Guarantees Mandatory
New drugs and gene therapies designed to treat cancer, rare diseases, etc. are justifiably commanding high prices. However, if they don ’t work, payments shouldn’t be required. (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - May 2, 2018 Category: Pharmaceuticals Authors: John LaMattina, Contributor Tags: NYSE:NVS NASDAQ:AMGN Source Type: news

Williams-Beurin syndrome added to Atlas of Human Malformation Syndromes in Diverse Populations
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to theAtlas of Human Malformation Syndromes in Diverse Populations. By adding highly accurate images and clinical information of diverse people with Williams-Beuren Syndrome, healthcare providers will better recognize and diagnose the rare disease in non-Europeans and deliver critical, early interventions and better medical care. Results are published in the May 2018 issue of theAmerican Journal of Medical Genetics. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 2, 2018 Category: Genetics & Stem Cells Source Type: news

Weekly Postings
See something of interest? Please share our postings with colleagues in your institutions! Spotlight All of Us Launch: The All of Us Research Program is ready launch nationally on May 6! The official launch will be held in Kansas City and seven communities throughout the United States. Join us or watch the broadcast live. HSLANJ Group Licensing Initiative: The deadline to participate in the Health Sciences Library Association of New Jersey (HSLANJ) Spring 2018 Group Licensing Offer is today, April 27. NNLM MAR members are eligible for this cost-saving opportunity! National Network of Libraries of Medicine News An historica...
Source: NN/LM Middle Atlantic Region Blog - April 27, 2018 Category: Databases & Libraries Authors: Hannah Sinemus Tags: Weekly Postings Source Type: news

Raremark: The " Facebook For People With Rare Diseases " Is Raising $3 Million To Fund DNA Services
Julie Walter ’s father died of the rare lung condition Idiopathic Pulmonary Fibrosis. Her stepbrother was diagnosed with autism at a young age, while her goddaughter has today battled and recovered from a rare type of Leukaemia. It was these experiences that led Walters to launch Raremark. (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - April 25, 2018 Category: Pharmaceuticals Authors: Kitty Knowles, Forbes Staff Source Type: news

Girl With Rare Disease Races Time Via Virtual Tech Girl With Rare Disease Races Time Via Virtual Tech
Pediatric brain disease patients the latest to gather data for clinical trails from the comfort of their own home.WebMD Health News (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - April 24, 2018 Category: Consumer Health News Tags: Neurology & Neurosurgery News Source Type: news

Shire weighs fresh approach from Japan’s Takeda
UK rare diseases drug company had rebuffed three previous proposals (Source: FT.com - Drugs and Healthcare)
Source: FT.com - Drugs and Healthcare - April 24, 2018 Category: Pharmaceuticals Source Type: news

Girl With Rare Disease Races Time Via Virtual Tech
Pediatric brain disease patients the latest to gather data for clinical trials from the comfort of their own home. (Source: WebMD Health)
Source: WebMD Health - April 23, 2018 Category: Consumer Health News Source Type: news

Woodford-backed biotech Prothena plunges as key drug fails
LONDON (Reuters) - Shares in Prothena, a biotech company backed by British investor Neil Woodford, plunged 70 percent on Monday after its main drug for treating a rare disease called AL amyloidosis failed in a crucial clinical trial. (Source: Reuters: Health)
Source: Reuters: Health - April 23, 2018 Category: Consumer Health News Tags: healthNews Source Type: news

Infinitesimal Odds: A Scientist Finds Her Child ’ s Rare Illness Stems From the Gene She Studies
When it comes to studying the genetics of the brain, Soo-Kyung Lee is a star, yet she was stunned to discover the cause of her daughter ’ s devastating disabilities. (Source: NYT Health)
Source: NYT Health - April 23, 2018 Category: Consumer Health News Authors: PAM BELLUCK Tags: Genetics and Heredity Brain Babies and Infants rare diseases neurological disorders Source Type: news

Harvard's Wyss Institute launches NuProbe to facilitate global precision medicine
(Wyss Institute for Biologically Inspired Engineering at Harvard) NuProbe Global will commercialize the Wyss Institute's DNA nanotechnology-based variant-detecting method as a fast, low-cost and multiplexed molecular diagnostic for different disease areas, including cancer and infectious diseases. The announcement follows a worldwide licensing agreement between Harvard's Office of Technology Development (OTD) and globally-operating NuProbe that will leverage the technology to develop clinical assays capable of simultaneously detecting multiple rare disease-related DNA variants in bodily fluids. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - April 23, 2018 Category: Biology Source Type: news

AAN 2018: Rare Disease Breakthroughs and Novel Approaches
(MedPage Today) -- Noteworthy presentations at American Academy of Neurology meeting (Source: MedPage Today Cardiovascular)
Source: MedPage Today Cardiovascular - April 20, 2018 Category: Cardiology Source Type: news

Biogen To Pay Ionis $1 Billion To Develop Brain Drugs
Their first collaboration, Spinraza, a treatment for a deadly rare disease called spinal muscular atrophy, generated $884 million sales last year, its first on the market. (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - April 20, 2018 Category: Pharmaceuticals Authors: Matthew Herper, Forbes Staff Tags: NASDAQ:BIIB NASDAQ:IONS Source Type: news

An innovative approach for a rare disease
(Source: ScienceNOW)
Source: ScienceNOW - April 19, 2018 Category: Science Authors: Kelly, P. N. Tags: Cell Biology, Medicine, Diseases twis Source Type: news

Abortion pill is being used to treat a rare disease
The same compound that terminates pregnancies in the abortion pill is also approved to treat a rare hormonal disorder, and the manufacturer, Corcept charges more than double the price for it. (Source: the Mail online | Health)
Source: the Mail online | Health - April 17, 2018 Category: Consumer Health News Source Type: news

Could statins ease deadly heart condition in rare neuromuscular disease?
(University of Pennsylvania School of Medicine) Decreased HDL and ApoA-l levels in the general population are associated with an increased risk of death from cardiomyopathy and heart failure. Researchers found the FA patients had serum ApoA-I levels lower than healthy control subjects. In preclinical studies using cell models that mimicked liver cells of patients with the rare disease Friedreich's ataxia (FA), a widely used cholesterol-lowering drug increased a precursor of HDL (high-density lipoprotein), the " good cholesterol. " (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 17, 2018 Category: International Medicine & Public Health Source Type: news

FDA Approves Vonvendi [von Willebrand factor (recombinant)] for Perioperative Management of Bleeding in Adult Patients with von Willebrand Disease
Cambridge, Ma. – April 17, 2018 – Shire plc (LSE: SHP, NASDAQ: SHPG), the global biotechnology leader in rare disease, today announced the U.S. Food and Drug Administration (FDA) has approved Vonvendi [von Willebrand factor (recombinant)], a... (Source: Drugs.com - New Drug Approvals)
Source: Drugs.com - New Drug Approvals - April 17, 2018 Category: Drugs & Pharmacology Source Type: news

North Bay company looks for 2nd rare-disease drug approval, voucher in 5 months
Winning FDA approval of a rare disease drug for children would net the company a voucher, which it could use to accelerate FDA review of another drug or sell to the highest bidder for millions of dollars. (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - April 16, 2018 Category: Biotechnology Authors: Ron Leuty Source Type: news