Rare Diseases Perspective

 
 
  • Rare Diseases -- Not Just for Geneticists Anymore   Drs Summar and Saul discuss gaps in education for all clinicians, as pediatric and other rare disease patients live longer, transition to adulthood, and rewrite natural histories of their diseases.
  • Rare Diseases and Translational Research at NIH   Dr Marshall Summar interviews Dr Petra Kauffman about the National Institutes of Health's initiatives to bring more new treatments to more patients more quickly.
  • From Colorado, the Latest on Marijuana for Epilepsy   Dr Andrew Wilner discusses the data around marijuana for epilepsy with neurologist, Kelly Knupp.
  • Will PCORnet Save US Clinical Research?   Drs Harrington and Hernandez discuss the inefficiencies of the US clinical trial system and their involvement in the National Patient-Centered Clinical Research Network's first trial on aspirin dose.
  • Understanding and Treating Autoimmune Epilepsy A look at the prevalence and treatment of this surprisingly common condition.
  • Does 'Right to Try' New Drugs Really Mean 'Right to Beg?'   Many states have passed 'Right-to-Try' laws, but do they cause more harm than good? Dr Art Caplan discusses this debatable legislation.
  • Acute Pancreatitis: The Latest on Etiology The latest data and thinking about the causes of pancreatitis come from 46th annual meeting of the American Pancreatic Association.
  • The Future Is Now   Drs Summar and Wamhoff discuss novel new technologies to advance our understanding of rare diseases.
  • Interview With Mike Watson of ACMG   With an explosion in technology and genetic testing, will there be enough Geneticists to serve the need? Drs Watson and Summar discuss this and more at the NORD Summit.
  • Physician Explorers: Changing the World How many of these intrepid physician explorers can you identify?
  • The Outcomes of Congenital Hyperinsulinism Dr Diva De León from CHOP's Congenital Hyperinsulinism Center explains how neonatal management and pediatric follow-up can improve outcomes for children with hyperinsulinism.
  • New Meningococcal B Vaccines: Who Gets Them and When?   Finally, two new meningococcal vaccines cover the deadly serogroup B. Indications are both age- and risk-based.
  • Summer 2015 Update: ACIP Adult Vaccine Recommendations Highlights of the June 2015 ACIP meeting and recommendations for meningococcal B, flu, and pneumococcal vaccines. Also: Informational updates for Tdap and herpes zoster vaccine.
  • Doctors' Love/Hate Relationship With Second Opinions Despite a high incidence of misdiagnosis, some doctors take it personally when another doctor disagrees with their initial verdict or a patient goes elsewhere for treatment advice.
  • Prions, the Pipeline, and the Latest in Parkinson Disease Medscape talks with the Michael J. Fox Foundation about the latest data and drug development in Parkinson disease.
  • Correlation or Causation? Our Search for Certainty Clinicians -- and patients -- want to know the root cause of medical symptoms and disease, but the answer isn't always clear.
  • Pursuing Elusive Diagnoses for Rare Diseases Dr William Gahl describes an NIH program designed to help patients and healthcare providers who have spent years seeking diagnoses for chronic, undiagnosed conditions.
  • The Importance of Rare Disease Education Despite popular consensus that rare diseases do not necessitate a prominent place in medical education, knowledge of these conditions can be life-changing for patients and practitioners.
  • Medical Marijuana: The State of the Science In this comprehensive review of the literature, Dr Michael Schatman discusses the available evidence and current controversies surrounding the use of cannabinoids in medicine.
  • Screening Newborns' DNA -- Why Not?   Marshall Summar and Jess Gilbert Thoene talk about how newborn screening has evolved and the almost unimaginable impact the Orphan Drug Act has had on product development for rare diseases since 1983.