PPT-Highly Specialised Technology Appraisals for Rare Disorders – A Clinician’s perspective

Nick Shaw Consultant Paediatric Endocrinologist Birmingham Childrens Hospital Personal Experience Invitation from NICE to act as a clinical expert on the HTA evaluation for Asfotase Alfa for . These disorders are usually inherited meaning they are caused by abnormalities in genes passed from parents to children When a person has a porphyria cells fail to change body chemicals called porphyrins and porphyrin precursors into heme the substa Orphan diseases represent a collection of disorders that afflict <200,000 individuals for any single disease type, and yet, as there are ~7,000 orphan diseases, in aggregate over 25M US citizens suffer substantial morbidity and mortality. Despite this . Written By. Clinton O. Longenecker, Ph.D.. Presented By. Meagan . Frances . Ayers. When Do We Care?. “The ironic part about appraising managers is that it doesn’t get a lot of attention in most organizations until appraisal time or unless there is a problem, which is ironic given the importance we place on them (appraisals).” – A Senior HR Manager’s Observation. Batten Disease. June 29-30, 2010 . FDA Public Meeting. “Considerations regarding the review and . regulation of articles for treatment of rare diseases”. Tracy VanHoutan, . Board Member . of the Batten Disease Support and Research Association (BDSRA). Abraham Tharakan. General Manager,. NIIT Ltd.. Learning. Media. Communication. Speed. Time. Space. Changing paradigms. Society. The fount. of all. knowledge. Becoming. specialised. Highly . specialised. Lecture 15. Chapter 14. 2. Defining Abnormality. To study the abnormal is the best way of understanding the normal.. William James (1842-1910). Defining Abnormality. 4. Defining Psychological Disorders. Anh. . Dang. Jan Ruecker. James Choi. Jarrett . Robbins   . . Sakshi. . Sachdev. Shan . Moin. Group B1. What is Performance Appraisal. It is . the process of obtaining, . analyzing. vocabulary. Averil Coxhead. Victoria University of Wellington. Aotearoa. /New Zealand. Today’s talk: Specialised vocabulary. Identifying. What is this vocabulary?. Why is it important?. Listing. When we use lists made by others, what do teachers need to think about?. Abraham Tharakan. General Manager,. NIIT Ltd.. Learning. Media. Communication. Speed. Time. Space. Changing paradigms. Society. The fount. of all. knowledge. Becoming. specialised. Highly . specialised. Marion Weeks. Jenks High School. Dissociative Disorders. Characterized by disturbances or changes in memory, consciousness, or identity due to psychological factors. . Some . believe dissociative disorders are an attempt to escape from a part of the self that one fears; allows them to reduce anxiety by forgetting stressful events or aspects of their personality. Marion Weeks. Jenks High School. Anxiety Disorders in general. Diagnosis occurs when overwhelming anxiety disrupts social or occupational functioning or produces significant distress.. Manifestations of anxiety. Involve the disunity of components of the personality that are normally integrated. General Description. rare disorders in which there is confusion or inability of individual to recall who or where they are, or how they got there. Juliana Hill, B.A.. -My Story--a brief account. how it . began. Evolution. Remission. Evolution. current . status: currently in recovery, gained weight, out of the underweight BMI, daily/sometimes hourly battle; in therapy; refuse to take stimulant; two steps forward one step back. . to. . care. and . on. European . cooperation. EESC . public. . hearing. :. Ensuring. . strong. European . solidarity. . for. . rare. . disease. . patients. Prof. Dr. . Ildiko. . Horvath.