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Unleashing the power of the genome to help children with rare diseases

With 80% of rare diseases having a genetic component, understanding a person’s genome – their unique sequence of DNA and complete genetic code  – has a huge part to play in both diagnosis and care for patients and their families. Dr Daniel Gale, Rare Disease Lead for the North Thames Genomics Laboratory Hub, which is led by Great Ormond Street Hospital (GOSH), provides an update on where genomics is now in relation to rare disease, and the exciting developments ahead in this field.

Severe combined immunodeficiency (SCID)

This booklet has been produced jointly between PID UK, Great Ormond Street Hospital (GOSH) and the Great North Children’s Hospital. The information has been reviewed by the PID UK Medical Advisory Panel and Patient Representative Panel and by families affected by PID. It is designed to help answer the questions families may have about the immune condition called severe combined immunodeficiency (SCID) but should not replace advice from a clinical immunologist.

Helping your teenager through transition from GOSH to adult neuromuscular services

Transition is a planned process. It aims to:
  • support teenagers in the development of skills to become more independent in their healthcare
  • support parents in helping their teenager to achieve this to the best of their ability and
  • prepare for transfer from child-centred healthcare to adult healthcare services. 
This page from Great Ormond Street Hospital (GOSH) offers you some suggestions about how you might help your teenager to move through transition.


Morphoea is a rare skin condition where patches of skin become hardened and lose their normal texture, becoming shiny. Sometimes the bones and muscles underneath the patches of skin become affected as well. 

Cochlear implants

This page explains cochlear implants and what to expect when your child comes to GOSH to be assessed to see whether one is suitable. It also explains the operation to fit a cochlear implant and what happens afterwards. The Cochlear Implant Programme at GOSH is one of around 20 in the UK and to date has carried out over 1100 cochlear implants. The implant team is multidisciplinary, involving people from many different specialist areas. These people include the Consultant Audiovestibular Physician, Ear, Nose and Throat (ENT) Surgeons, Audiologists, Speech and Language Therapists, Teachers of the Deaf and Clinical Psychologists.


Ambrisentan belongs to a group of medicines called ‘endothelin receptor antagonists’. It is prescribed at Great Ormond Street Hospital (GOSH) to treat pulmonary hypertension (high blood pressure in the blood vessels in the lungs).


Arrhythmias are abnormal heart rhythms, which can prevent the heart pumping efficiently. This page from Great Ormond Street Hospital (GOSH) explains how the heart beats normally, what happens when it starts to beat abnormally and how it can be treated.

Gastrojejunostomy (transgastric jejunal) feeding device care

A gastrostomy is a surgical opening through the skin of the abdomen to the stomach. A gastrojejunostomy device is inserted through this opening to the stomach and then on to the first part of the small intestine (jejunum). This means that liquid feed can be delivered directly into the small intestine bypassing the mouth, throat and stomach. This page from Great Ormond Street Hospital (GOSH) describes the procedure to insert a gastrojejunostomy feeding device and explains the care it will need afterwards.

Lung transplant

This information from Great Ormond Street Hospital (GOSH) is for parents of children and young people undergoing assessment for possible lung or heart-lung transplantation. A transplant is a serious operation and is not without risk. A transplant can be the only effective treatment option for certain serious lung diseases; however, it is not a cure. In many situations transplantation can lead to an extension of life with improved quality.