Diagnosing a rare disease can take years. When it’s a disease that’s never been identified before, the search for a diagnosis can be that much more difficult. Daryl Scott, Associate Professor of Molecular and Human Genetics at Baylor College of Medicine, and colleagues diagnosed four patients on two continents with a never before identified rare disease in a day. The feat is recounted in a recent study published in the journal PLoS ONE (bit.ly/2oEXhy5). We spoke to Scott about the diagnosis, how it all came together, and what it says about the role of data and collaboration in medical detective work today.


RARECast is a weekly series by Daniel S. Levine. Levine is an award-winning business journalist who has reported on the life sciences, economic development, and business policy issues throughout his 25-year career. He founded Levine Media Group in 2013, which produces The Bio Report and RARECast podcasts. Read his full bio here. 

193 thoughts on “RARECast: How Researchers Diagnosed Four Patients with a Never-Before-Identified Rare Disease in a Day”

  1. Pingback: nursingehr
  2. Pingback: xenical cap
  3. Pingback: careprost drops
  4. Pingback: clomid medication
  5. Pingback: nolvadex powder
  6. Pingback: tadalafil
  7. Pingback: fotowerft
  8. Pingback: cialis cost cvs
  9. Pingback: roman sildenafil
  10. Pingback: 20 mg sildenafil
  11. Pingback: mvaesthetic
  12. Pingback: shamswesley
  13. Pingback: stromectol a45
  14. Pingback: stromectol drug
  15. Pingback: One Time Email
  16. Pingback: Random Email
  17. Pingback: One Time Email
  18. Pingback: Best Temp Mail
  19. Pingback: Temp EMail
  20. Pingback: Temp EMail
  21. Pingback: Temp EMail
  22. Pingback: Temp EMail
  23. Pingback: Temp EMail
  24. Pingback: sildenafil 36
  25. Pingback: viagra 12
  26. Pingback: buy amoxil uk
  27. Pingback: lasix 200 mg
  28. Pingback: gabapentin 31
  29. Pingback: dapoxetine canada
  30. Pingback: modafinil
  31. Pingback: ventolin online
  32. Pingback: lasix for sale
  33. Pingback: gabapentin cost
  34. Pingback: prednisone uk buy
  35. Pingback: avana india
  36. Pingback: modafinil purchase
  37. Pingback: viagra otc price
  38. Pingback: Temp EMail
  39. Pingback: Google
  40. Pingback: aralen 200 cost
  41. Pingback: baricitinib 4mg
  42. Pingback: order nolvadex
  43. Pingback: Anonymous
  44. Pingback: Masum
  45. Pingback: Anonymous
  46. Pingback: tadalafil pills
  47. Pingback: tadalafil buy
  48. Pingback: ivermectin india
  49. Pingback: online viagra soft
  50. Pingback: buy lasix 100mg
  51. Pingback: ivermectin 200
  52. Pingback: tadalafil 5mg
  53. Pingback: tadalafil pills
  54. Pingback: get cialis
  55. Pingback: cialis 20mg online
  56. Pingback: merck approval
  57. Pingback: cialis otc
  58. Pingback: buy ivermectin nz
  59. Pingback: cialis pills
  60. Pingback: order viagra
  61. Pingback: tadalafila
  62. Pingback: my borgata
  63. Pingback: ivermectin amazon
  64. Pingback: ivermectin 12
  65. Pingback: generic
  66. Pingback: cialis generic
  67. Pingback: ivermectin wormer
  68. Pingback: intermectine
  69. Pingback: india ivermectin
  70. Pingback: ivermectin trial
  71. Pingback: stromectol 3 mg
  72. Pingback: vanllen
  73. Pingback: nedaparvaz
  74. Pingback: mygohotels
  75. Pingback: avis tadalafil
  76. Pingback: besafeab
  77. Pingback: lucky land slots
  78. Pingback: WordPress
  79. Pingback: stromectol pill
  80. Pingback: cdc ivermectin
  81. Pingback: ivermectin gel
  82. Pingback: stromectol oral
  83. Pingback: Platinum haupia
  84. Pingback: Platinum haupia
  85. Pingback: Watermelon haupia
  86. Pingback: Bubble hash
  87. Pingback: Moroccan hash
  88. Pingback: Litto
  89. Pingback: Bubble hash
  90. Pingback: cialis medication
  91. Pingback: stromectol amazon
  92. Pingback: bahis siteleri
  93. Pingback: 3reinstate
  94. Pingback: AI Audits