BabySeq, MedSeq Projects Reveal How Many People Carry Genetic Risk Variants for Rare Diseases
More information on newborn and adult sequencing studies unveiled at American Society for Human Genetics Meeting (Source: BWH News)
Source: BWH News - October 17, 2018 Category: Hospital Management Source Type: news

Value: A Balancing Act
There are perhaps few buzzwords bandied around in pharma circles as much in recent years as ‘value’. Companies are actively competing to stress value over volume and highlight their zealous efforts to go well ‘beyond the pill’ and deliver real value for every stakeholder in healthcare, from the patient up.A cynic might suggest that such talk is simply pharma marketing speak but, with ever-tightened purse strings, payers are demanding that pharma delivers on its promises, as they seek to understand how much bang for their buck they can expect when they purchase drugs.“We are over the tipping po...
Source: EyeForPharma - October 16, 2018 Category: Pharmaceuticals Authors: Ross Davies Source Type: news

Soligenix Announces Positive Recommendation by Independent Data Monitoring Committee on its Phase 3 Clinical Trial of SGX301 for the Treatment of Cutaneous T-cell Lymphoma
PRINCETON, N.J., Oct. 15, 2018 -- (Healthcare Sales & Marketing Network) -- Soligenix, Inc. (Nasdaq: SNGX) (Soligenix or the Company), a late-stage biopharmaceutical company focused on developing and commercializing products to treat rare diseases where t... Biopharmaceuticals, Oncology Soligenix, hypericin, cutaneous T-cell lymphoma (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - October 15, 2018 Category: Pharmaceuticals Source Type: news

WATCH: Respiratory virus with potential to lead to rare disease raises concerns
What parents need to know and how to protect children from EV. (Source: ABC News: Health)
Source: ABC News: Health - October 13, 2018 Category: Consumer Health News Tags: GMA Source Type: news

WATCH: More than 3 dozen cases of rare disease confirmed in New York
Acute flaccid myelitis, which has polio-like symptoms, can affect the spinal cord and can cause partial paralysis. (Source: ABC News: Health)
Source: ABC News: Health - October 12, 2018 Category: Consumer Health News Tags: WNT Source Type: news

Powerful Photo Series Highlights The Experiences Of Those Who Live With A Rare Disease
The Beauty of Rare project also shows what it's like to care for someone with a rare condition. (Source: Healthy Living - The Huffington Post)
Source: Healthy Living - The Huffington Post - October 12, 2018 Category: Consumer Health News Source Type: news

Two more children are diagnosed with mysterious polio-like disease in Chicago
Two children in Chicago are among the 38 children with a rare disease known as acute flaccid myelitis (AFM). One of them is two-year-old Julia Payne, who has been in the hospital for several weeks. (Source: the Mail online | Health)
Source: the Mail online | Health - October 11, 2018 Category: Consumer Health News Source Type: news

Energy CEO goes on quest to find a cure for rare disease
When John Cavitt learned that three of his children had a rare disease that limited their vision, he set out to find a way to help them. Now, he's close to a cure. (Source: bizjournals.com Health Care News Headlines)
Source: bizjournals.com Health Care News Headlines - October 11, 2018 Category: Health Management Authors: Joshua Mann Source Type: news

Energy CEO goes on quest to find a cure for rare disease
When John Cavitt learned that three of his children had a rare disease that limited their vision, he set out to find a way to help them. Now, he's close to a cure. (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - October 11, 2018 Category: Biotechnology Authors: Joshua Mann Source Type: news

Illinois boy, 7, is first EVER diagnosed with rare disease
Will Kilquist, of Illinois, was diagnosed with one of 31 syndromes discovered in less than two years by a new national network dedicated to uncovering the roots of rare, undiagnosable diseases. (Source: the Mail online | Health)
Source: the Mail online | Health - October 11, 2018 Category: Consumer Health News Source Type: news

Finding answers for patients with rarest of rare diseases
Some patients with mysterious symptoms get answers through a network of hospitals that tackle the rarest of rare diseases (Source: ABC News: Health)
Source: ABC News: Health - October 10, 2018 Category: Consumer Health News Tags: Health Source Type: news

WATCH: What to know about rare disease causing partial paralysis in children
The UPMC Children's Hospital of Pittsburgh has confirmed three children are receiving treatment for a rare neurological disease that can lead to partial paralysis. (Source: ABC News: Health)
Source: ABC News: Health - October 10, 2018 Category: Consumer Health News Tags: GMA Source Type: news

Hope and heartbreak: Expensive drugs for rare diseases are both a gift and a challenge
The drug industry is turning more attention to rare conditions, but therapies can carry exceptional costs — which can lead to excruciating conditions. (Source: CBC | Health)
Source: CBC | Health - October 9, 2018 Category: Consumer Health News Tags: News/Canada/British Columbia Source Type: news

3 More Kids Have Developed a Rare, Polio-Like Illness —and Health Officials Don’t Know Why
Three more children have come down with a polio-like nervous system disorder that can cause paralysis, fueling an ongoing investigation into an outbreak of the rare disease. Three children are being treated for suspected cases of acute flaccid myelitis (AFM) at UPMC Children’s Hospital of Pittsburgh, ABC News reports. The new patients join a cluster of cases in Minnesota and another in Colorado. As of September 30, the Centers for Disease Control and Prevention (CDC) had this year recorded 38 confirmed cases of the severe condition, which typically affects kids and can result in muscle weakness or paralysis, respirat...
Source: TIME: Health - October 8, 2018 Category: Consumer Health News Authors: Jamie Ducharme Tags: Uncategorized healthytime Minnesota onetime Source Type: news

Up to 127 People Have Developed a Rare, Polio-Like Illness — and Health Officials Don’t Know Why
The Centers for Disease Control and Prevention (CDC) has so far this year recorded 127 suspected cases of a polio-like nervous system disorder that can cause paralysis, fueling an ongoing investigation into an outbreak of the rare disease. Of those 127 illnesses, 62 cases in 22 states are confirmed to be acute flaccid myelitis (AFM), the CDC said Tuesday. The CDC recorded only 33 confirmed cases of the severe condition — which typically affects kids and can result in muscle weakness or paralysis, respiratory failure and even death — during all of last year, though there were 149 cases the year before. “W...
Source: TIME: Health - October 8, 2018 Category: Consumer Health News Authors: Jamie Ducharme Tags: Uncategorized healthytime Minnesota onetime Source Type: news

Rare disease means a woman, 21, has not eaten in more than FOUR YEARS
Kelly Beckers, 21, from the Netherlands, has chronic idiopathic intestinal pseudo-obstruction. The disease arose due to complications from her being born breech. (Source: the Mail online | Health)
Source: the Mail online | Health - October 8, 2018 Category: Consumer Health News Source Type: news

FDA Greenlights Inotersen for Rare Disease Nerve Pain
(MedPage Today) -- But approval comes with boxed warning and mandatory monitoring (Source: MedPage Today Neurology)
Source: MedPage Today Neurology - October 6, 2018 Category: Neurology Source Type: news

Should FDA Treat Rare Disease Drugs Differently?
(MedPage Today) -- Patient advocates, industry call for looser regulation (Source: MedPage Today Primary Care)
Source: MedPage Today Primary Care - October 4, 2018 Category: Primary Care Source Type: news

Substantial increase in economic burden of rare diseases in Taiwan
(Source: PharmacoEconomics and Outcomes News)
Source: PharmacoEconomics and Outcomes News - October 1, 2018 Category: Drugs & Pharmacology Source Type: news

Call for Volunteers: NNLM Wikipedia Edit-a-thon
In April of this year, the National Network of Libraries of Medicine hosted a Wikipedia Edit-a-thon to add citations to Wikipedia articles on rare diseases, using trusted National Library of Medicine resources like Genetics Home Reference, MedlinePlus, PubMed, and the NIH resource Genetic and Rare Diseases Information Center. Are you interested in improving the health information available on Wikipedia? Do you want to utilize your librarian research skills towards making Wikipedia a better, evidence-based resource? Have you always wanted to participate in an edit-a-thon? Good news! You can Join NNLM for another Wikipe...
Source: NN/LM Middle Atlantic Region Blog - September 27, 2018 Category: Databases & Libraries Authors: Hannah Sinemus Tags: Consumer Health Education Open Access Outreach Public Health Source Type: news

Monkeypox? British health worker infected with rare disease
British officials say a health worker involved in treating a patient with monkeypox has been infected with the rare disease, suggesting possible lapses in the hospital's infection control procedures. (Source: CBC | Health)
Source: CBC | Health - September 26, 2018 Category: Consumer Health News Tags: News/Health Source Type: news

UK: health worker infected with smallpox-like disease
British officials say a health worker involved in treating a patient with monkeypox has been infected with the rare disease, suggesting possible lapses in the hospital's infection control procedures (Source: ABC News: Health)
Source: ABC News: Health - September 26, 2018 Category: Consumer Health News Tags: Health Source Type: news

Monkeypox: THIRD case of the rare disease confirmed in UK - Symptoms to watch out for
MONKEYPOX has had its third case diagnosed in the UK, according to Public Health England, after another person, who is being treated in Newcastle, was confirmed to have the disease. (Source: Daily Express - Health)
Source: Daily Express - Health - September 26, 2018 Category: Consumer Health News Source Type: news

Monkeypox: THIRD case of the rare disease confirmed in UK
MONKEYPOX has had its third case diagnosed in the UK, according to Public Health England, after another person, who is being treated in Newcastle, was confirmed to have the disease. (Source: Daily Express - Health)
Source: Daily Express - Health - September 26, 2018 Category: Consumer Health News Source Type: news

FDA awards 12 grants to fund new clinical trials to advance the development of medical products for the treatment of rare diseases
FDA has awarded 12 new clinical trial research grants to enhance the development of medical products for patients with rare diseases (Source: Food and Drug Administration)
Source: Food and Drug Administration - September 24, 2018 Category: American Health Source Type: news

FDA awards 12 grants to fund new clinical trials to advance the development of medical products for the treatment of rare diseases
The U.S. Food and Drug Administration today announced that it has awarded 12 new clinical trial research grants totaling more than $18 million over the next four years to enhance the development of medical products for patients with rare diseases. These new grants were awarded to principal investigators from academia and industry across the country. (Source: World Pharma News)
Source: World Pharma News - September 24, 2018 Category: Pharmaceuticals Tags: Featured FDA Regulatory Affairs Source Type: news

Pharma with Duke University roots files to go public
A clinical-stage pharmaceutical firm with Duke University roots has filed paperwork to go public in an $86.3 million offering – one that could mean a windfall for a Triangle investor. PhaseBio Pharmaceuticals, which spun out of Duke University in 2002 and counts Durham's Hatteras Venture Partners as a backer, relocated its headquarters from Durham to Pennsylvania in 2010. Late Friday, the company, which focuses on trea ting rare diseases – particularly in the cardiopulmonary space – filed… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - September 21, 2018 Category: Pharmaceuticals Authors: Lauren K. Ohnesorge Source Type: news

Pharma with Duke University roots files to go public
A clinical-stage pharmaceutical firm with Duke University roots has filed paperwork to go public in an $86.3 million offering – one that could mean a windfall for a Triangle investor. PhaseBio Pharmaceuticals, which spun out of Duke University in 2002 and counts Durham's Hatteras Venture Partners as a backer, relocated its headquarters from Durham to Pennsylvania in 2010. Late Friday, the company, which focuses on trea ting rare diseases – particularly in the cardiopulmonary space – filed… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - September 21, 2018 Category: Biotechnology Authors: Lauren K. Ohnesorge Source Type: news

Solving the genome puzzle
With advances in gene technology helping to diagnose very rare diseases, has the new era of personalised medicine finally arrived?Evie Walker sits on her mother ’s lap, playing a game she never grows tired of: turning her mother’s hand over and over, stroking and examining it. When she takes a break and looks around, it is with the open-mouthed look of curiosity and awe that you see in many infants. Evie’s vocabulary currently consists of a repertoire of squawks and “mmm” sounds. In the past few months, she has begun to stand unaided for short periods – even taking a few steps in her wal...
Source: Guardian Unlimited Science - September 21, 2018 Category: Science Authors: Linda Geddes Tags: Genetics Health Society Politics Children Cancer Cancer research Medical research Science Biology Source Type: news

Breast Implant Study Should Be Taken with a Grain of Salt, FDA Says
A study linking silicone gel-filled breast implants with several rare diseases should be viewed with caution, according to FDA. The authors of the study, published last week in the Annals of Surgery, say they looked at data from nearly 100,000 breast implant procedures gleaned from FDA-mandated postmarket studies for implants made by Johnson & Johnson's Mentor business, and by Allergan. The analysis showed that silicone implants are associated with higher rates of  Sjögren syndrome, scleroderma, rheumatoid arthritis, stillbirth, and melanoma. The researchers reported that 56% of the...
Source: MDDI - September 18, 2018 Category: Medical Devices Authors: Amanda Pedersen Tags: Implants Source Type: news

FDA pushes back on silicone breast implant study
The FDA last week pushed back at a large study showing an association between silicone breast implants and some rare diseases, standing by its record of warning the public about their risks – despite granting approvals to a slew of the implants in recent years. The study, published Sept. 14 in the Annals of Surgery, looked at data from nearly 100,000 breast implant procedures the researchers gleaned from FDA-mandated post-approval studies for implants made by Johnson & Johnson (NYSE:JNJ) unit Mentor and by Allergan (NYSE: AGN). The analysis showed that silicone implants are associated with higher rates of Sj...
Source: Mass Device - September 17, 2018 Category: Medical Devices Authors: Brad Perriello Tags: Featured Food & Drug Administration (FDA) Women's Health Allergan johnsonandjohnson Source Type: news

Research in yeast leads to serendipitous finding about a central nervous system disorder
(Salk Institute) Researchers from the Salk Institute found that an important quality control mechanism in baker's yeast is closely connected to hypomyelinating leukodystrophy, a debilitating disease found in children. The findings could indicate a therapeutic approach for this rare disease, as well as for multiple sclerosis and other neurodegenerative diseases. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 14, 2018 Category: International Medicine & Public Health Source Type: news

Mediaplanet Teams Up With BERG to Highlight How Harnessing Artificial...
Mediaplanet’s Rare Diseases campaign found within USA TODAY and online highlights approved treatment options along with new investigational research and innovations in rare diseases.(PRWeb September 14, 2018)Read the full story at https://www.prweb.com/releases/mediaplanet_teams_up_with_berg_to_highlight_how_harnessing_artificial_intelligence_and_patient_biology_can_accelerate_treatments_for_rare_diseases/prweb15764315.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - September 14, 2018 Category: Pharmaceuticals Source Type: news

MediaPlanet and Dante Labs Team Up to Highlight the Role of Whole...
Mediaplanet’s Rare Diseases campaign found within USA TODAY and online highlights approved treatment options along with new investigational research and innovations in rare diseases.(PRWeb September 14, 2018)Read the full story at https://www.prweb.com/releases/mediaplanet_and_dante_labs_team_up_to_highlight_the_role_of_whole_genome_sequencing_within_rare_diseases/prweb15764356.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - September 14, 2018 Category: Pharmaceuticals Source Type: news

Lumoxiti OK'd for Hairy Cell Leukemia
(MedPage Today) -- FDA approval marks first anti-CD22 drug for treating the rare disease (Source: MedPage Today Hematology/Oncology)
Source: MedPage Today Hematology/Oncology - September 13, 2018 Category: Hematology Source Type: news

KKH develops rapid genomic sequencing to diagnose critically ill children with rare diseases
(SingHealth) A multi-disciplinary team at KK Women's and Children's Hospital (KKH) has developed a test to enable faster diagnosis of rare diseases to help critically ill children. Rapid Genomic Sequencing or RapidSeq of critically ill children in the neonatal and children's intensive care units is a test, the first of its kind in Singapore, to help families by providing information on the underlying genetic diagnosis of these critically ill children (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - September 13, 2018 Category: Biology Source Type: news

Montco biopharm firm opens new headquarters
The company, which was founded last year and is focused on rare diseases, has grown to 42 employees. (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - September 12, 2018 Category: Pharmaceuticals Authors: John George Source Type: news

Monkeypox warning: How virus infection is different to chickenpox - second case in UK
MONKEYPOX virus has been diagnosed in the UK twice within the past five days, Public Health England confirmed. The rare disease, which causes headaches, fever and a widespread rash, is similar to chickenpox, but with some distinctive differences. These are the signs and symptoms of both infectious viral infections. (Source: Daily Express - Health)
Source: Daily Express - Health - September 12, 2018 Category: Consumer Health News Source Type: news

A Conversation With: A Battle Plan for a War on Rare Diseases
Dr. Matthew Might is developing a strategy for people seeking treatments for little-known ailments. (Source: NYT Health)
Source: NYT Health - September 10, 2018 Category: Consumer Health News Authors: KAREN WEINTRAUB Tags: Genetics and Heredity Might, Matthew Medicine and Health University of Alabama at Birmingham rare diseases Research Source Type: news

Insuring patient access and affordability for treatments for rare and ultra-rare diseases
(American College of Medical Genetics and Genomics) The last decade has seen tremendous progress in the development of new drugs for patients with genetic disorders, including Cystic Fibrosis, many lysosomal storage disorders (Gaucher disease, Fabry disease and others) and most recently, Duchenne Muscular Dystrophy and Spinal Muscular Atrophy (SMA). The American College of Medical Genetics and Genomics (ACMG) is concerned with the staggering projected cost of these new treatments. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 7, 2018 Category: International Medicine & Public Health Source Type: news

Cambridge's Akcea discloses layoffs after FDA drug rejection
Cambridge-based Akcea Therapeutics Inc. said Thursday that it plans to lay off 10 percent of its workforce following the FDA's rejection of its rare disease drug last week. While Akcea (Nasdaq: AKCA) did not say how many people would be laid off, the company told the Business Journal in June that it had more than 200 employees. That suggests the cuts will affect around 20 workers. The layoffs were disclosed in a filing with the U.S. Securities and Exchange Commissio n. In a statement, Akcea said… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - September 6, 2018 Category: Biotechnology Authors: Allison DeAngelis Source Type: news

Cambridge's Akcea discloses layoffs after FDA drug rejection
Cambridge-based Akcea Therapeutics Inc. said Thursday that it plans to lay off 10 percent of its workforce following the FDA's rejection of its rare disease drug last week. While Akcea (Nasdaq: AKCA) did not say how many people would be laid off, the company told the Business Journal in June that it had more than 200 employees. That suggests the cuts will affect around 20 workers. The layoffs were disclosed in a filing with the U.S. Securities and Exchange Commissio n. In a statement, Akcea said… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - September 6, 2018 Category: Pharmaceuticals Authors: Allison DeAngelis Source Type: news

Ashfield collaborate with Ada Health on new app using AI technology
Turn innovation into everyday life Treat rare disease patients earlier and better. Apart from the major common diseases, there is a highly specialized and fast-growing field in the... The post Ashfield collaborate with Ada Health on new app using AI technology appeared first on Ashfield Healthcare. (Source: Ashfield Healthcare News)
Source: Ashfield Healthcare News - September 3, 2018 Category: Pharmaceuticals Authors: Benjamin Rapp Source Type: news

An Unwarranted Attack On Rare Disease Research
Hearing a parent agonize over the plight of their child who suffers from a rare disease is heart wrenching. For these families, research into rare disease drugs hasn ’t come close to “reaching an extreme”. (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - August 28, 2018 Category: Pharmaceuticals Authors: John LaMattina, Contributor Tags: NYSE:PFE NYSE:NVS NASDAQ:SRPT NASDAQ:RARE Source Type: news

FDA rejects rare disease drug developed by Cambridge's Akcea
The FDA rejected a drug developed by Cambridge biotech Akcea Therapeutics Inc. in partnership with California-based Ionis Pharmaceuticals that's intended to treat a rare lipid disorder, halting hopes for a treatment for the currently unserved, debilitating disease. Cambridge-based Akcea (Nasdaq: AKCA) and Ionis (Nasdaq: IONS) announced the news about the drug, Waylivra, at the close of trading on Monday. The companies had partnered up to develop the drug using Ionis' antisense technology. Akcea's… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - August 28, 2018 Category: Biotechnology Authors: Allison DeAngelis Source Type: news

FDA rejects rare disease drug developed by Cambridge's Akcea
The FDA rejected a drug developed by Cambridge biotech Akcea Therapeutics Inc. in partnership with California-based Ionis Pharmaceuticals that's intended to treat a rare lipid disorder, halting hopes for a treatment for the currently unserved, debilitating disease. Cambridge-based Akcea (Nasdaq: AKCA) and Ionis (Nasdaq: IONS) announced the news about the drug, Waylivra, at the close of trading on Monday. The companies had partnered up to develop the drug using Ionis' antisense technology. Akcea's… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - August 28, 2018 Category: American Health Authors: Allison DeAngelis Source Type: news

Shire wins FDA approval for potential blockbuster rare disease drug
The FDA has approved a potential blockbuster rare disease drug developed by Shire plc, which is set to be absorbed by Takeda Pharmaceuticals next year. The drug, Takhzyro, treats a rare and potentially life-threatening genetic disease called hereditary angioedema, or HAE, which leads to episodes of swelling in the limbs, abdomen and airway. Shire's (Nasdaq: SHPG) Phase 3 studies showed that patients taking the injectable drug every two weeks expe rienced an 87 percent reduction in attacks. Analysts… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - August 24, 2018 Category: American Health Authors: Allison DeAngelis Source Type: news

Shire wins FDA approval for potential blockbuster rare disease drug
The FDA has approved a potential blockbuster rare disease drug developed by Shire plc, which is set to be absorbed by Takeda Pharmaceuticals next year. The drug, Takhzyro, treats a rare and potentially life-threatening genetic disease called hereditary angioedema, or HAE, which leads to episodes of swelling in the limbs, abdomen and airway. Shire's (Nasdaq: SHPG) Phase 3 studies showed that patients taking the injectable drug every two weeks expe rienced an 87 percent reduction in attacks. Analysts… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - August 24, 2018 Category: Biotechnology Authors: Allison DeAngelis Source Type: news

Shire grabs FDA ok with blockbuster potential
The U.S. FDA has approved a first of its kind drug from Shire to treat patients suffering from a rare disease, hereditary angioedema (HAE). (Source: PharmaManufacturing.com)
Source: PharmaManufacturing.com - August 24, 2018 Category: Pharmaceuticals Source Type: news