Rare Disease Genetics Research

Below are some of our ongoing Rare Disease Genetics research studies. You can find out more about a particular study by clicking on the study title listed below. If you have any questions about the study, you can contact the research team using the details provided.

Research studies you may be eligible for if the underlying genetic cause for your disorder is known

Main aim:

Investigate if there is a genetic change in subjects who have eye muscle disorders and to understand further the mechanisms of nerve "wiring" that occurs between the brain and the eye muscles as a human develops.

 

Inclusion criteria:

Individuals with familial eye muscle disorders or sporadic eye muscle disorders and also unaffected family members will be studied.

 

Closing date: 31/12/2021 

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

 

Main aim:

To recruit a large group of patients with Di George syndrome and study them to see how frequently Di George syndrome causes Parkinson's disease. This will help us understand the cause of Parkinson's disease and perhaps suggest new treatments.

 

Inclusion criteria:

Individuals age over 18 years old with a 22q11 deletion who are mentally competent to give informed consent are eligible.

 

Closing date: 1/10/2020

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aim:

Identify cognitive, neurophysiological and neuroanatomical phenotypes and to describe psychiatric and behavioural co-morbidities reflecting disruption to different functional gene networks in patients with ID.

 

Inclusion criteria:

Patients over age 6 years old -
a. Objectively diagnosed with a neurodevelopmental disorder by a paediatrician, neurologist, psychologist or geneticist,
b. In whom a genomic variant has been identified, that is likely to contribute to intellectual disability in the patient.


Comparison subjects -
a. WASI full-scale IQ within one standard deviation of the population mean,
b. Matched in age (+/1 year) and gender to a patient with ID within the study.

 

Closing date: 31/3/2022

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aim: Understanding intellectual developmental disorders caused by mutations in genes that encode the BAF swi/snf chromatin remodelling complex and associated proteins.

 

Inclusion criteria: Patients with intellectual disability with de novo mutations in genes coding in or related to the BAF swi/snf complex, aged 2-40 years, and unaffected first-degree relatives.

 

Closing date: 1/10/2022

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim: Understand the cognitive and brain development of infants with NF1. This research will help us understand the development of ASD and ADHD in NF1.

 

Inclusion criteria:

<14 months at the time of enrolment with clinical or molecular diagnosis of NF1
a) at least one parent speaks English

Exclusions - 
Conditions that may make harder for an infant to participate including any serious physical complications due to NF1 (judged by the referring clinician), significant vision or hearing abnormalities, significant prematurity, parents with evidence of significant learning difficulties or who are unable to give informed consent.

 

Closing date: 31/8/2024

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aims:

  • To better understand Huntington’s disease as it happens in people, to give us insights into developing new drugs
  • Improve the design of clinical trials to give us clear answers more quickly. We want better, smarter, faster clinical trials so that we can move as quickly as possible to find the treatments that work
  • Improve clinical care for HD patients by identifying the best clinical practices across all Enroll-HD sites around the world and then working to ensure that all families get that standard of care.

Inclusion criteria:

HD Gene expansion mutation - 

  • Manifest, Pre-manifest, Genotype unknown (with a carrier first/second degree relative) or family control

Closing date: 1/8/2063

 

Link to further information

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Inclusion criteria:

Aged 16+ with -

  • Clinical Marfan or marfan-like syndrome
  • Severe aortic pathology - aortic root or aorta >4.5cm diameter or previous aortic replacement surgery due to aortic dilatation/dissection
  • Documented mutation in the fibrillin-1 gene or another gene known to cause a Marfan-like syndrome

Exclusions -

  • Pregnant women
  • Inability to give informed consent

Closing date: 31/10/2022

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aim:

We aim to determine the natural history of renal disease by a follow-up study of patients identified through the Institute of Medical Genetics' molecular genetic diagnostic service for tuberous sclerosis and other UK genetic centres. This will provide important diagnostic information for patients at diagnosis and help guide their management.

 

Inclusion criteria: Patients with a TSC1, TSC2 or TSC2/PKD1 contiguous deletion.

 

Closing date: 31/8/2021

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Inclusion criteria:

Overgrowth defined as height and/or head circumference > = 2 standard deviations above the mean in association with intellectual disability with or without a known genetic cause in one of the established overgrowth genes.

 

Closing date: 1/10/2021

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim: To identify further genes responsible for Perrault syndrome (hearing loss and ovarian insufficiency).

 

Inclusion criteria:

>16 years old, with clinical features consistent with a diagnosis of Perrault syndrome i.e. POI, and SNHL
OR individuals with a relative with a diagnosis of Perrault syndrome.

 

Exclusion criteria -

  • Alternative diagnosis to explain ovarian dysgenesis (e.g. Turner syndrome), peripheral neuropathy or sensorineural deafness
  • Adults lacking capacity to consent for themselves

Closing date: 1/12/2020

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aims:

  • Use CSF to study HD and other conditions
  • Identify and evaluate biomarkers and pathways for HD and other conditions.

Inclusion criteria:

  • 21-75 years of age, inclusive
  • Capable of complying with study procedures, including fasting, blood sampling and lumbar puncture
  • Are participating in the Enroll-HD study
  • Healthy controls, pre-manifest or manifest patients

Closing date: 1/5/2021

 

Link to further information

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Inclusion criteria: Cases of primary lymphoedema

 

Closing date: 1/3/2023

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Malou.VanZanten@nhs.net
07783171684

Main aim: We seek to facilitate human health research and its transformation into medical practice.

 

Inclusion criteria:

  • Patients with a rare disease where no genetic cause has yet been identified
  • Rare diseases fitting into themes of Infection and Immunity, Neuroscience, Cardiovascular & Metabolic and Rare Diseases itself will be given priority.

Closing date: 31/3/2022

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim:

Stratify new mutations into specific mutational categories, in order to give parents who have had a child with a new mutation a modified, more accurate, figure for the actual risk that another child of theirs would be affected with the same genetic condition.

 

Inclusion criteria: Parent-child trios in which the child was previously identified to harbour an apparently de novo mutation.

 

Closing date: 28/2/2025

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim:

To characterize the full spectrum of disease in PURA syndrome and the long-term prognosis, as this may assist in improved care for patients and development of treatment strategies for patients with PURA syndrome.

 

Inclusion criteria:

  • Patients will be included in the study if a pathogenic or likely pathogenic PURA gene mutation has been located and reported.
  • Patients with whole gene deletions or duplications of PURA will also be eligible for inclusion.

Closing date: 25/4/2049

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aims:

  • Characterise the clinical presentations of a group of patients with germline disorders of the RAS-MAPK pathway, including patients with Noonan, Costello syndrome, and those with features of cardio-facio-cutaneous syndrome
  • Search for the genetic basis of the clinical presentation in patients with CFC and related disorders using newer types of genetic analysis
  • Make study findings available so that they can be used to aid patient management and genetic counselling in the families involved.

Inclusion criteria:

Clinical diagnosis of a disorder of the RAS/MAPK pathway, with appropriate molecular testing, such as:

  • Noonan syndrome
  • Cardio-facio-cutaneous syndrome
  • Costello syndrome

Closing date: 31/12/2020

 

Link to further information

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Research studies you may be eligible for if the underlying genetic cause for your disorder is unknown

Main aim:

Through this research the team hope to shed more light on this poorly understood condition. Finding the genes responsible could lead to more rapid diagnosis, counselling for pregnant women who are at the highest risk, and the possibility of a treatment in the future.

 

Inclusion criteria:

  • Foetal hydrops at any gestation
  • Single compartment oedema
  • Foetuses with Nuchal Translucency >4.5mm at 12/40 ultrasound scan
  • Individuals affected by foetal oedema or hydrops in utero with no explanation identified.

Closing date: 1/12/2021

 

Link to further information

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim:

Primary aim is to identify new genetic causes of craniofacial malformation, principally craniosynostosis (premature fusion of the cranial sutures) but including other major categories such as facial clefts, frontonasal dysplasia, and hemifacial microsomia.

 

Inclusion criteria:

Case parent trio. All patients attending one of the four nationally funded craniofacial units in England.

  • Patients with clinical assessment found to have a significant craniofacial disorder expected to require surgery
  • Patients in whom clinical assessment of the phenotype and/or family history suggests that the subject may be particularly instructive for further genetic research or that this may be beneficial for their diagnosis
  • Patients not attending one of the four craniofacial units but referred to the study by a Consultant Clinical Geneticist, Paediatrician or Surgeon for genetic assessment of a craniofacial disorder.

Exclusion criteria:

  • Mild disorders not likely to require surgery
  • Isolated clefts of the lip and/or palate
  • Individuals with craniofacial disorders who have already had a surgical procedure and do not require a further procedure with the exception of specific referrals from a Consultant Clinical Geneticist, Paediatrician or Surgeon for genetic assessment of a craniofacial disorder.

Closing date: 31/3/2022

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aim:

Identify genes for human growth, developmental and brain disorders and understand the function of these genes to elucidate the origins and mechanisms of these disease processes.

 

Inclusion criteria:

  • Developmental delay/Cognitive impairment, and/or other neurological deficits
  • Diagnosis of a neurodevelopmental disorder
  • Genetic aetiology likely on clinical grounds.

Exclusion Criteria:

  • Major chromosome imbalance or aneuploidy identifiable on routine karyotyping
  • Environmental cause (e.g. birth hypoxia, congenital infection).

Closing date: 31/7/2023

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aim: To establish the genetic and cellular cause of rare disorders of metabolism and/ or growth.

 

Inclusion criteria:

Participants with rare disorders of metabolism and/or between the ages of 0-90 years.

Participants must have a disorder of growth or metabolism with a likely genetic cause that has not been identified in clinical care. The large majority of patients will fall into one or more of the following categories:

  • Severe Insulin Resistance
  • Atypical diabetes
  • Unexplained hypoglycaemia
  • Lipodystrophy
  • Severe polycystic ovary syndrome
  • Overgrowth
  • Dwarfism

Closing date: tbc

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Inclusion criteria:

Overgrowth defined as height and/or head circumference > = 2 standard deviations above the mean in association with intellectual disability with or without a known genetic cause in one of the established overgrowth genes.

 

Closing date: 1/10/2021

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aims:

  • Describe the characteristics of groups of patients with isolated or syndromic ENT (Ear/ Nose/ Throat) anomalies
  • Find out how common these changes are in people with isolated or syndromic ENT anomalies
  • Identify new genes responsible for spliceosomal disorders and isolated ear/nose/throat anomalies
  • Explain the scientific role of the proteins programmed by spliceosomal genes.

Inclusion criteria:

  • Clinical features consistent with a diagnosis of a spliceosomal disorder
  • Relative with a diagnosis of a spliceosomal disorder
  • Isolated choanal stenosis/atresia, microtia or other external and internal ear anomalies, laryngeal anomalies, cleft palate, Pierre-Robin sequence
  • 0-16 years of age.

Closing date: 31/3/2021

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aims:

  • Find out more about why epigenetic events occur
  • Find out whether imprinting aberrations involve more than one location simultaneously
  • Find the phenotype accompanying genotypes if abnormalities are found
  • Development of robust tests for imprinting disorders for NHS service.

Inclusion criteria:

  • Unexplained short stature <10th centile, or 3 or more of the listed features (see website for list) AND
  • Normal routine investigations including chromosome and/or array analysis and no known cause for the problems OR
  • A known imprinting disorder diagnosed or confirmed in an accredited NHS genetics laboratory.

Closing date: 1/10/2022

 

Link to further information

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Inclusion criteria:

  • Phenotypically comparable patients with congenital vascular anomalies
  • Medically fit for skin biopsy

Closing date: 1/4/2022

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Malou.VanZanten@nhs.net
07783171684

Inclusion criteria:

  • Cases of primary lymphoedema
  • 18-65 y/o

Closing date: 31/12/2023

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Malou.VanZanten@nhs.net
07783171684

Main aim:

To investigate the range of metabolic and growth phenotypes of patietns with rare segmental overgrowth disorders, hemihypertrophy and lipoblastomas, and identify the genetic aetiology of these conditions.

 

Inclusion criteria:

Participants between the ages of 0-80 years with -

  • Segmental overgrowth OR
  • Lipoblastoma OR
  • Hemihypertrophy AND
  • Clinically stable enough to undergo testing safely.

Exclusions - 

  • Pregnant or breastfeeding
  • Any current medical disorder or medication likely to impair ability to follow the study protocol safely and effectively
  • Incapacity to give informed consent.

Closing date:  31/05/2023

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Inclusion criteria: Cases of primary lymphoedema

 

Closing date: 1/3/2023

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Malou.VanZanten@nhs.net
07783171684

Inclusion criteria:

  • Parents offered whole genome or whole exome sequencing for their child or unborn baby (referred by GOSH)
  • Health professionals from relevant specialties.

Closing date: 31/12/2020

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aims:

  • Solve large numbers of rare disease, for which a molecular cause is not known yet by sophisticated combined omics approaches
  • Improve diagnostics of rare disease patients through contribution to, participation in and implementation of a “genetic knowledge web” which is based on shared knowledge about genes, genomic variants and phenotypes.

Inclusion criteria:

  • Patients with a rare disease with a likely genetic diagnosis
  • Diagnosis remains unknown after extensive testing of multiple genes.

Closing date: 1/6/2023

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim:

Flagship study exploring needs, technical aspects and quality assurance of RNA analysis as a means to interpret sequence variants of unknown significance.

 

Inclusion criteria:

Participants will have already been investigated at their request by the molecular genetics diagnostic laboratory. They will be included in the study if a sequence variation of unknown significance is found, and if on studying the sequence a splicing abnormality is suspected.

Particular interest are patients where mutation analysis alone has not given a conclusive result and where further analysis would help clarify the patient’s disease status.

 

Closing date: 31/12/2023

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Clinical trials

Main aim: Evaluate the effect of carbamazepine on children with a diagnosis of Metaphyseal Chondrodysplasia Schmid Type (MCDS) with confirmed COL10A1 pathogenic mutation.

 

Inclusion criteria: Participants where a pathogenic mutation in the gene encoding the COL10A1 protein has been identified by sequence analysis.


Exclusion -

  • Have reached skeletal maturity
  • Prior adverse reaction to carbamazepine or similar drugs such as oxcarbazepine, or to any related tricyclic antidepressants.
  • Known to have atrioventricular block
  • History of bone marrow suppression/depression
  • Chronic hepatic or renal impairment
  • Acute intermittent porphyria
  • Received a monoamine oxidase inhibitor within 14 days of commencing therapy
  • Patients of Han Chinese, Thai and other Asian origins who carry the HLA-B*1502 allele.

Closing date: 30/11/2022

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aim:

A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin 4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström syndrome (AS) Patients with Moderate to Severe Obesity.

 

Inclusion criteria:

  • BBS clinical diagnosis as per Beales, 1999 or AS diagnosis as per Marshall, 2007
  • ≥6 years of age
  • Obese, defined as BMI ≥30 kg/m2 for patients ≥16 years of age.

Closing date: tbc

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

South East Genomics

Welcome to our new home

We have recently changed our name from the NHS London South Genomic Laboratory Hub to the NHS South East Genomic Laboratory HubWe think it better reflects the region we cover!

Hello! Welcome to the South East GLH website. The site is not fully supported in older versions of Internet Explorer. To get the best experience, we recommend that you use Google Chrome or Firefox to browse the site.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.