About CheckOrphan

Founder and President of CheckOrphan.org

Stephen Hawking will Answer Questions about AI in Reddit AMA for a Week

Stephen Hawking, world renowned astrophysicist and cosmologist, will be hosting the longest AMA (Ask Me Anything) session to date on Reddit, from Monday, July 27th, 8 AM all the way until Tuesday, August 4th. The event is sponsored by Nokia and Wired and it is bound to be the scientific event of the year.

Stephen Hawking will answer every single question that he will receive from those attending the conference and he will actually be taking his time. Because Reddit expected that people will have a massive amount of questions for one of the brightest minds on the planet, the AMA session was scheduled much longer than a regular AMA session, but during this time, Stephen Hawking will mostly be taking the questions.

One of the reasons why Professor Hawking has been given such a lengthy AMA gig is due to the time it takes for him to respond to questions using his slowed communications method. Sadly the man suffers from a rare disease, Amyotrophic Lateral Sclerosis (ALS). This is the first time on Reddit that this format will be employed.

The 73-year-old Hawking is considered as one of the most remarkable physicists of all time, and his book “A Brief History of Time”, which tackles black holes and other cosmological objects, stirred up heated scientific debate and became a national bestseller for many years. In specific, he may shed light on the letter he and other tech personalities had signed, warning about the dangers of AI overstepping the bounds of human control.

The Reddit session can be used as a chance to discuss the implications of Stephen Hawking’s theory about artificial intelligence, to identify the risk points of this scenario, so that more people can fully grasp the extent of his theory and to find the best direction possible for science and technology to be guided towards, so that humanity can evolve in a safe environment.

This highly anticipated event will mark as the longest AMA ever in the social networking, entertainment, and news website Reddit which also served as a haven for registered members who have penchant for sharing ideas, viewpoints, know-hows, skills and opinions.

Ladd: Don’t cap prescription drug prices

Healthcare costs keep climbing. Medical spending will increase 6.8 percent this year and another 6.5 percent in 2016, according to PricewaterhouseCoopers consultants.

Some policymakers blame high prescription drug prices for these cost increases. State lawmakers in Massachusetts are pushing a bill that could cap prices on certain innovative but expensive medications. Some federal officials are advocating for price controls on Medicare Part D drugs.

Imposing price controls on prescription drugs is a terrible idea. Such caps won’t bring down healthcare spending, but they will discourage investment in drug research, thereby robbing patients of new life-changing new medicines. To protect patients, lawmakers should oppose arbitrary price controls that undermine medical research.

Dictating drug prices is a sure-fire way to stop pharmaceutical firms from creating new medicines. Drug development is a stunningly expensive process. The average FDA-approved medicine requires an investment of $2.6 billion and over a decade of research, according to a recent study from Tufts University.

The reality is most drugs don’t make it to approval — and investment in research and development must be recouped.

If price controls prevent pharmaceutical firms from earning back their development costs, then those firms won’t embark on risky drug research projects. According to the National Bureau of Economic Research, mandating drug price decreases of 40 or 50 percent would lead to a 30 to 60 percent decrease in early stage research and development projects.

Research funding cuts resulting from price controls would hurt all patients, but especially those suffering from rare diseases. Last year, 17 of the 41 new medicines approved by the FDA were treatments for rare diseases affecting less than 200,000 people. These medicines tend to be quite expensive because of the comparatively small patient populations force drug companies to charge a high cost per dose to recoup their development costs.

For instance, Vertex Pharmaceuticals recently released Orkambi, a new drug that could dramatically improve the lives of 8,000 Americans with a particular strain of cystic fibrosis, a fatal lung disease. Orkambi’s $259,000 annual price tag is undeniably costly. But if lawmakers were to impose price controls on Orkambi and other so-called “specialty” drugs, developers wouldn’t take the financial risk of attempting to create them. Patients would be left with no effective treatments.

In effect, price controls tell sick Americans with rare diseases: “You’re not worth helping.”

Price controls would prevent the development of new treatments targeted at more common diseases too. Consider the autoimmune disease lupus, which afflicts 1.5 million Americans with inflammation, pain and organ damage. In 2011, the FDA granted approval to Benlysta, the first drug in more than half a century designed specifically to treat lupus.

Had price controls been in effect during Benlysta’s 15-year development process, it’s unlikely that today’s patients would have access to such an innovative medicine. They’d be stuck using older, less effective treatments that cause side effects including nausea, dizziness and eye damage.

Although the high price tags on specialty drugs seem problematic, such drugs account for just 3 percent of total U.S. healthcare spending. Capping drug prices will drain the drug development pipeline dry, but will ultimately have little impact on overall medical spending.

In fact, oftentimes these specialty drugs lower healthcare spending by averting the need for more expensive treatments. For instance, Sovaldi, an $84,000 hepatitis C medication, cures 90 percent of patients. Patients treated with Sovaldi enjoy restored liver function and healthier lives.

They also won’t require more extreme hepatitis C treatments, such as a $500,000 liver transplant. By eliminating future healthcare expenses, Sovaldi saves more money than drug price caps ever would.

Lawmakers shouldn’t impose research-stifling price controls on pharmaceuticals. But they should work to make drugs more affordable. They can start by prohibiting insurers from charging unaffordable co-pays and co-insurance. That would protect patients without harming research.

Officials could also push for stronger trade agreements that stop other nations from capping their own drug prices and freeloading off U.S. drug development efforts at the expense of U.S. patients.

Politicians should also instruct regulators to strike the right balance between encouraging original drug development and enabling generic alternatives to come to market. Generic competition helps keep total drug spending in check. However, lawmakers must remember that without huge research efforts to develop the original brand name drug, there would be no generic alternative.

Imposing price controls on prescription drugs will deter medical research and development. That would devastate patients and prevent the discovery of drugs that improve lives and save the healthcare system billions.

Virginia Ladd is president and executive director of the American Autoimmune Related Diseases Association.

Elected Officials are Considering Including Rett Syndrome Funding in the Department of Defense’s 2016 Appropriations Bills

As the result of meetings just held in Washington DC, many of our elected officials are thinking about Rett syndrome right now.

WHY THEY ARE THINKING ABOUT RETT SYNDROME

We at Rettsyndrome.org have requested that report language is included in the Department of Defense’s fiscal year 2016 appropriations bills that would allow funding to be used for clinical trials for Rett syndrome.  Our Chief Science Officer Steve Kaminsky, PhD, recently met with officials asking them to include Rett syndrome in the “Peer Reviewed Medical Research Program.” Being included in this program would allow Rett researchers to compete for this additional federal funding.  Rett syndrome represents a clinical model of synaptic disorder associated with brain injury, as seen in wounded warriors. Clinical trials in Rett syndrome could lead to new avenues to approach traumatic brain injury (TBI).

Traumatic brain injury has affected the lives of over 300,000 veterans and warfighters and shares common synaptic dysfunction to Rett syndrome and leads to physical, cognitive, emotional and behavioral problems. Soldiers suffering from TBI can develop tremors, uncoordinated muscle movements, shock-like contractions of muscles, loss of range of movement and control, seizures and loss of vision, hearing and smell. These brave men and women may suffer from changes in personality, emotional instability, depression, anxiety, hypomania, mania, apathy, problems with social judgment and impaired conversation skills.

Among the challenges with discovery based research in TBI are that no two injuries share common pathology, so controlling the clinical research is very difficult. Rett syndrome, being a single gene disorder, has a known cause of the neuronal damage and can be studied in a controlled research setting. The fact that both disorders have associated synaptic dysfunction makes Rett syndrome an excellent model to identify possible treatments for TBI. Drugs currently in clinical trials to treat Rett syndrome are expected to be found to be effective in treating those suffering from TBI.

WHY THIS IS IMPORTANT

Including Rett syndrome in the list of diseases and disorders eligible for study under the peer reviewed medical program will allow researchers from all over the country to compete for this funding. Institutes that have conducted research or that are currently participating in clinical research include Baylor College of Medicine, Boston Children’s Hospital, Children’s Hospital of Philadelphia, Emory University, Gillette Children’s, Rush University Medical Center, University of Alabama at Birmingham, UCSF, UC San Diego, University of Cincinnati, University of Colorado Medical School, University of Rochester, and Vanderbilt University.

Using Rett syndrome as a model for TBI also has the potential of making these medications available more quickly. Because Rett syndrome is a rare disease, drugs are eligible for Fast Track, Breakthrough Therapy and Orphan Drug Status from the Food and Drug Administration that may allow treatments to gain approval faster than they would if developed solely for the purpose of treating TBI.

WHAT’S NEXT

This was an initial effort to obtain funding through the DOD accounts.  We will continue to educate elected officials on Rett syndrome and hope that through these advocacy efforts we will obtain additional funding to identify treatments for Rett syndrome and other neurological disorders.

Rettsyndrome.org is a 501c(3) non-profit corporation registered as the International Rett Syndrome Foundation

RARE Champion of Hope – Advocacy

The Joshua Frase Foundation
                               
RARE Champion of Hope – Advocacy

I want to congratulate Alison Rockett Frase for winning such a prestigious award for Advocacy from the Global Genes foundation, a group that has created the ‘Gold Standard’ for rare disease awareness across the globe. I do not brag well, but I must say that every word uttered is well deserved and earned through her tears, joy, pain and happiness over the last 2 decades.

From the day our son Joshua was born, Alison did not accept the death sentence spoken over our son. Alison stated in her first conversation with Joshua’s first nurse in Medical City Hospital, Dallas TX…”LET’S GIVE HIM A CHANCE”…Alison was told a few hours after our son’s birth that he might not make it through the day…a short time later, they sent us home and said if he’s alive in a year, bring him back and we’ll re-evaluate him…by Joshua’s first birthday, Alison and I had co-founded The Joshua Frase Foundation for Congenital Myopathy Research, Inc. and Alison was busy organizing a world class group of scientists, and planning events for fundraising and raising awareness for this deadly disorder that takes the lives of most before their second birthday.

I have frequently said that Alison’s chutzpah and resolve gained her passage through many encounters with doctors in hospitals that did not know how to care for these fragile kiddos…I must say at this point, that all of the mother’s of these kids learn to fight for their children’s lives, and it is amazing for us husbands to witness the fortitude and resolve it takes to move this life forward with MTM…so…I take a moment to congratulate all of the mothers, fathers, daughters who are carriers or not, grandparents, friends and family who have carried the torch for your loved ones through this tiresome journey. A few years before Joshua passed, Alison and I produced the last JFF promotional film, and in that film we said that selfishly, we hope we find a cure with in our Joshua’s lifetime, but if not, we would not stop until we found the answers…

When Joshua passed 40 days shy of his 16th birthday, our world was shattered and shaken, but not broken. We live with faith, hope, and love. Faith that every decision made and every chess move taken was done for our children, and faith that no matter what, things would work for good. Hope that we could make a difference in the lives of our MTM children and their families lives as well, and experience a love that surpasses all understanding. These children teach us how to love unconditionally.

This award is given for Advocacy, advocacy for the patients, the parents, the extended families, the scientists, and everyone who is affected by this disorder. I personally see this award given to my wife for the countless times I would come home from work, or awaken in the night to hear Alison weeping, sometimes uncontrollably…one time speaking with a mom or dad from Australia, or maybe England, or Texas, or Canada…I can not name them all, but they have spanned the continents, and I will tell you that each time one of these conversations takes place, whether a child is being life-flighted, or in the NIC unit fighting for their lives, Alison would dry the tears, stand up, and with more resolve than I could imagine, get ready to fight the next battle against this disorder.

I congratulate my wife for her efforts and accomplishments. I congratulate her and the scientific team as well as every advocate for MTM for getting this science to clinical (hopefully soon). I congratulate Alison and all of the MTM families out there fighting for their children. And, as Alison and I always say…ALWAYS FOR THE CHILDREN

Best,
Paul Frase

Press Release from Global Genes

Global Genes Announces Fourth Annual RARE Tribute to Champions of Hope Award Recipients

ALISO VIEJO, Calif. — July 14, 2015 — Global Genes™ is pleased to announce the award recipients that will be recognized and honored at the 4th Annual RARE Tribute to Champions of Hope on September 26, 2015, at the Hyatt Regency Huntington Beach Resort and Spa in Huntington Beach, CA. The annual blue carpet event brings together scientists, advocates, patients and supporters who are leading the efforts in the fight against rare disease.

Over 300 individuals and organizations worldwide were nominated by their peers for a RARE Champion of Hope award for their notable efforts in rare disease advocacy, science, collaborative sciences, medical care and treatment. From the extraordinary list of nominees, members from the Global Genes Board of Directors, Medical and Science Advisory Board, and other key partners, selected the recipients to be honored at the 4th annual Tribute event.

To read the press release in its entirety, click here

To make sure that you receive our current newsletters, please add alison@joshuafrase.org to your contacts

Cystinosis Research Foundation (CRF) June 2015 Starfacts

Cystinosis Research Foundation Starfacts June 2015

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March 3-4, 2016 – Arnold and Mabel Beckman Center of the National Academies of Science and Engineering in Irvine, California – The fifth biennial CRF sponsored cystinosis research symposium is the only global research symposium for cystinosis researchers. It will be led by co-chairs, Corinne Antignac, MD, PhD, Stéphanie Cherqui, PhD and Julie Ingelfinger, MD. The keynote speaker will be Harold M. Hoffman, MD from UCSD who will speak on inflammasome and its association with inflammation and diseases. The invitation only conference will bring together CRF funded researchers who are working on new treatments and a cure for cystinosis. For information contact Nancy Stack.

CRF DAY OF HOPE FAMILY CONFERENCE

CRF Day of Hope Family ConferenceIsland Hotel, Newport Beach, CA – Thursday, April 7 to Saturday, April 9, 2016  New Venue * New Programs * New Friendships * New Research – Mark your calendars and make your plans to join us for a weekend of hope and inspiration at our new venue, the Island Hotel, Newport Beach. Cystinosis families from around the globe will learn about the research progress from CRF’s top cystinosis researchers and have the opportunity to renew friendships and greet new families from the cystinosis community. For information email Nancy Stack.

FORE A CURE GOLF TOURNAMENT

Fore a Cure 2015Pelican Hill Golf Course, Newport Beach – Monday, October 19, 2015  Celebrating its eighth year, theNatalie’s Wish Fore a Cure Golf Tournament is moving to a new venue, the world-class Pelican Hill Golf Course. Rated one of the top golf tournaments in Orange County, the event is attended by top business leaders and golf enthusiasts and is always sold out. Don’t miss your opportunity to participate and sign up early! For sponsorship information call Zoe Solsby (949) 223-7610 or email,zsolsby@cystinosisresearch.org.

CURE CYSTINOSIS INTERNATIONAL REGISTRY LAUNCHES NEW SURVEY

CCIR LogoAttention all cystinosis patients and families! The NEW & IMPROVED cystinosis survey is ready to complete! There is always room for improvement and cystinosis experts felt that additional CCIR survey questions could help address gaps in our knowledge about the disease. This knowledge will be instrumental in propelling cystinosis research forward. Will you please take a moment today to page through the improved survey http://www.cystinosisregistry.org. Login to your account as usual and you will notice that answers you provided to existing or unmodified questions are still recorded in the system so you do not have to start from scratch. Just check that the answer options you marked are still accurate today and update your response only if necessary. Also provide answers to the new or modified questions. Thank you for being part of the cure! Contact the Curator atcurator@cystinosisregistry.org should you have questions or require assistance.