1. LESSON 7: Who Should Pay? Funding Research on Rare Genetic Diseases PowerPoint slides to accompany Using Bioinformatics : Genetic Research

2. Pediatric Neurologist Russell Saneto, DO, PhD Place of Employment: Seattle Children’s Research Hospital Type of Work: Diagnosis and treatment of epilepsy, neurogenetic disorders, and neurometabolic disorders (in particular mitochondrial disease) I count it a privilege to diagnosis and treat patients and their families. Although I am a pediatric physician, I have found that you not only treat the child, but the whole family. When a child gets sick, the whole family suffers.

3. Meet Adam Kinnear Adam is from England, and is the only child in the United Kingdom with a rare genetic disease called Leigh’s disease. Adam is shown here with his father, Michael, who organized a bike ride in 2008 to raise money for Leigh’s disease research. “He was fine up until he was eight months old and then he started to choke while we were weaning him. We noticed that he seemed to be going backwards in his development. We have no idea how long he will live. We just have to get on with it and take every day as it comes.” – Judith Kinnear, Adam’s mother From The Evening Gazette Image Source: http://sweeneygen677s10.weebly.comImage Source: http://sweeneygen677s10.weebly.com & http://www.gazettelive.co.uk/news/teesside-news/2008/07/08/rare-strain-of-leigh-s-syndrome-makes-little-adam-one-in-a-million-84229-21301888/

4. What is Leigh’s Disease? A type of Subacute Necrotizing Encephalomyelopathy (SNEM) – Subactute = Symptoms start rapidly – Nectrotizing = Regions of the brain die – Encephalo = Brain – Myelo = Spinal Cord Image Source: http://sweeneygen677s10.weebly.comImage Source: http://sweeneygen677s10.weebly.com & http://www.odt.co.nz/the-regions/north-otago/36911/rugby-mad-lad-with-grit-boot Caused by mutations affecting production of the cytochrome c oxidase complex. Only 1 in every 100,000 children have SNEM, and even fewer have Leigh’s disease. Andrew Easton is one of three children with Leigh’s disease in New Zealand. Picture obtained from the Otago Daily Times

5. Understanding Leigh’s Disease: The Importance of ATP Mitochondria are found in almost all cells and make ATP. ATP synthesis involves the electron transport chain, which includes Complex IV and COI. Mutations cause less Complex IV to be made, and therefore less ATP, and cells starve. Image Source: Wikimedia Commons The electron transport chain includes Complex IV, which contains the barcode protein, COI

6. Rare Genetic Diseases Affect Many People and Families The National Institutes of Health in the US has an Office of Rare Diseases Research. “Rare” is defined as a disease that affects fewer than 200,000 people in the United States. – “Rare” Disease: 1 per 1500 people – SNEM: 1 per 100,000 children There are thousands of different rare genetic diseases known. Source: http://rarediseases.info.nih.gov/

7. Bioethical Principles Respect for Persons – Respecting the inherent worth of an individual and his or her autonomy Maximize Benefits/Minimize Harms – Beneficence/Nonmaleficence – The most good for the most people Justice – Being fair; giving what is “owed” or “due” – Distributing benefits/burdens equitably across a group of individuals

8. Pediatric Neurologist Russell Saneto, DO, PhD Place of Employment: Seattle Children’s Research Hospital Type of Work: Diagnosis and treatment of epilepsy, neurogenetic disorders, and neurometabolic disorders (in particular mitochondrial disease) I count it a privilege to diagnosis and treat patients and their families. Although I am a pediatric physician, I have found that you not only treat the child, but the whole family. When a child gets sick, the whole family suffers.

9. CAREERS IN SPOTLIGHT: Pediatric Neurologist What do they do? Diagnose and treat children with disorders of the brain and spinal cord. What kind of training is involved? Usually an MD (Medical Doctor) or DO (Doctor of Osteopathic Medicine). The DO is trained specifically in understanding the muscular and skeletal system and how this may relate to disease or pain management. What is a typical salary for a Pediatric Neurologist? The average salary for a Pediatric Neurologist is $220,000/year ($106/hour). Source: Physician Compensation Survey, by the American Medical Group Association (AMGA).