Rare Diseases Perspective

  • Ob/Gyn Behind Birth of 3-Person-DNA Baby Plans More Procedures In an exclusive interview with Medscape, Dr John Zhang says he plans to perform spindle nuclear transfer in other women who want to prevent passing mitochondrial disease to their babies.
  • 5 Things to Know About Baby Born With DNA From Three People Mitochondrial manipulation technology allowed a woman to give birth to a baby born without her mitochondrial disease. Here's what you need to know about this medical breakthrough.
  • What Is Chromosome 22q11.2 Deletion Syndrome?   Dr Donna McDonald-McGinn discusses how research into this microdeletion syndrome is shining a light on related conditions like autism, schizophrenia, and congenital heart disease.
  • The Significance of Unknown Significance: A Teachable Moment The recent lawsuit against a diagnostic laboratory is a wake-up call to the entire field of medicine to become better versed in genetics and genomics -- because genetic testing is here to stay.
  • Identifying Rare and Emerging Microbes Quickly If your lab isn't using MicrobeNet, you are missing out on faster pathogen detection than is possible by conventional means.
  • The Case of the Blue/Brown-Eyed Girl A 2-year-old girl presents with unusual pigmentation in one eye and hearing issues. Can you make the correct diagnosis?
  • Deadly Midwest Outbreak of Elizabethkingia Clinicians must be vigilant for this rare and deadly growing outbreak of Elizabethkingia that has baffled public health experts and killed 17 people so far.
  • Is Misdiagnosis Inevitable? Although many experts say that doctors have room for improvement in making diagnoses, such factors as rare diseases, atypical presentations, and imperfect screening tests make that less likely.
  • A Focus on Hepatitis C: Cascade of Care In the first part of this three-part series on hepatitis C, Dr William Balistreri discusses the prevalence of this infection, screening methods, and access and barriers to care.
  • Cardio-Oncology: An Integrative Approach   Dr Naveen L Pereira talks to Dr Joerg Herrmann about the importance of bringing cardiology and oncology together and his hopes for the future for the new cardio-oncology clinic.
  • Unilateral Glaucoma? A 44-year-old man presents with blurred vision in one eye that is worse in the morning. What is the cause of his visual complaint?
  • 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.


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