Shining a Light on Silver-Russell syndrome (SRS), Feb 28 Join us for this ONLINE event on Rare Disease Day 2023, find out about how rare genetic conditions, like SRS, are diagnosed and hear about what it’s like to live with Silver-Russell syndrome (SRS). People living with genetic disorders and cancers are at the heart of our research at the Institute of Genetics and Cancer (IGC), the University of Edinburgh. The mission of MRC Human Genetics Unit (HGU) within our institute is to increase understanding of how mutations (inherited and acquired) cause genetic conditions and cancer. The MRC Human Genetics Unit is tackling the huge issue of how we interpret the genome (the complete set of DNA within a species) to better understand and treat human disease. Our researchers work hand in hand with NHS staff, including doctors and the NHS testing services, and people affected by genetic disorders. Millions of human genomes have been sequenced around the world but understanding the significance of genetic variation at the level of molecules, cells, tissues, or people lags behind. The MRC HGU is tackling this challenge by investigating the mechanisms of how genetic variants affect disease. Silver-Russell syndrome (SRS), also called Russell-Silver syndrome (RSS), is a genetic condition and rarely, it can be inherited but most people who have RSS don’t have a family history of the disease. Globally, 1 in 15,000 people are born with this condition. Diagnosis of RSS can be difficult because many GPs and Paediatric Consultants may not be familiar with this condition. People born with this condition are born small and often have limb or facial asymmetry (irregularity). Growth is affected during childhood and this means that adults with RSS have significantly shorter statures than average. Symptoms of RSS range from mild to severe, so that these symptoms can go undetected. In some people with RSS, a genetic change is found: 40-50% are found to have a problem on chromosome 11 and in another 5-10% on chromosome 7. Sometimes, the genetic cause cannot be identified. Most cases are not inherited from a parent and occur sporadically. In rare cases, RSS may be inherited - in an autosomal dominant or autosomal recessive manner. Treatment is focused on managing the symptoms of RSS. As the first few years of life are very important in child development, treatment for RSS focuses on treating its symptoms so that children can develop as normally as possible. As patients grow older, many symptoms improve. Online Programme 18:00: Welcome & Housekeeping: Dee Davison, IGC Public Engagement Manager 18:10: Conversation between Dr Mary Porteous, Clinical Lead, NHS South East Scotland Rare Disease Genetic Service and Gracie Taylor, who is living with RSS. Mary will outline how the Gracie’s diagnosis was made clinically, and then confirmed on further genetic testing, when Gracie was six months old. Gracie will describe her diagnostic journey and how she lives with RSS - her symptoms, the treatments she has received and her hopes for the future. 18:40: Dr Emma Wakeling, Clinical Consultant, Great Ormond Street Hospital & Scientific Advisor with the Child Growth Foundation. 18:55: The Child Growth Foundation. 19:00: Q&A 19:30: Event ends Related Links Institute of Genetics and Cancer events Feb 28 2023 18.00 - 19.30 Shining a Light on Silver-Russell syndrome (SRS), Feb 28 On Rare Disease Day 2023, find out about this rare genetic condition, (SRS) - lived experience, research, clinical and charity support. The Institute of Genetics and Cancer, Western General Hospital, Crewe Road South, Edinburgh EH4 2XU Register here
Shining a Light on Silver-Russell syndrome (SRS), Feb 28 Join us for this ONLINE event on Rare Disease Day 2023, find out about how rare genetic conditions, like SRS, are diagnosed and hear about what it’s like to live with Silver-Russell syndrome (SRS). People living with genetic disorders and cancers are at the heart of our research at the Institute of Genetics and Cancer (IGC), the University of Edinburgh. The mission of MRC Human Genetics Unit (HGU) within our institute is to increase understanding of how mutations (inherited and acquired) cause genetic conditions and cancer. The MRC Human Genetics Unit is tackling the huge issue of how we interpret the genome (the complete set of DNA within a species) to better understand and treat human disease. Our researchers work hand in hand with NHS staff, including doctors and the NHS testing services, and people affected by genetic disorders. Millions of human genomes have been sequenced around the world but understanding the significance of genetic variation at the level of molecules, cells, tissues, or people lags behind. The MRC HGU is tackling this challenge by investigating the mechanisms of how genetic variants affect disease. Silver-Russell syndrome (SRS), also called Russell-Silver syndrome (RSS), is a genetic condition and rarely, it can be inherited but most people who have RSS don’t have a family history of the disease. Globally, 1 in 15,000 people are born with this condition. Diagnosis of RSS can be difficult because many GPs and Paediatric Consultants may not be familiar with this condition. People born with this condition are born small and often have limb or facial asymmetry (irregularity). Growth is affected during childhood and this means that adults with RSS have significantly shorter statures than average. Symptoms of RSS range from mild to severe, so that these symptoms can go undetected. In some people with RSS, a genetic change is found: 40-50% are found to have a problem on chromosome 11 and in another 5-10% on chromosome 7. Sometimes, the genetic cause cannot be identified. Most cases are not inherited from a parent and occur sporadically. In rare cases, RSS may be inherited - in an autosomal dominant or autosomal recessive manner. Treatment is focused on managing the symptoms of RSS. As the first few years of life are very important in child development, treatment for RSS focuses on treating its symptoms so that children can develop as normally as possible. As patients grow older, many symptoms improve. Online Programme 18:00: Welcome & Housekeeping: Dee Davison, IGC Public Engagement Manager 18:10: Conversation between Dr Mary Porteous, Clinical Lead, NHS South East Scotland Rare Disease Genetic Service and Gracie Taylor, who is living with RSS. Mary will outline how the Gracie’s diagnosis was made clinically, and then confirmed on further genetic testing, when Gracie was six months old. Gracie will describe her diagnostic journey and how she lives with RSS - her symptoms, the treatments she has received and her hopes for the future. 18:40: Dr Emma Wakeling, Clinical Consultant, Great Ormond Street Hospital & Scientific Advisor with the Child Growth Foundation. 18:55: The Child Growth Foundation. 19:00: Q&A 19:30: Event ends Related Links Institute of Genetics and Cancer events Feb 28 2023 18.00 - 19.30 Shining a Light on Silver-Russell syndrome (SRS), Feb 28 On Rare Disease Day 2023, find out about this rare genetic condition, (SRS) - lived experience, research, clinical and charity support. The Institute of Genetics and Cancer, Western General Hospital, Crewe Road South, Edinburgh EH4 2XU Register here
Feb 28 2023 18.00 - 19.30 Shining a Light on Silver-Russell syndrome (SRS), Feb 28 On Rare Disease Day 2023, find out about this rare genetic condition, (SRS) - lived experience, research, clinical and charity support.
