Molecular Diagnostics lay a foundation for a successful healthcare system with a potential to revolutionize patient care. The progress in human genomics is continuously reshaping our approach to therapy and diagnosis offering tools that go further than characterization of disease. Molecular Diagnostics provide critical information that can aid in better medical decision making especially tests entailing infectious disease, genetics and now oncology to aid in personalizing cancer treatment. At every stage of medical treatment i.e. prevention, detection, diagnosis and treatments diagnostic tests give a critical insight on managing health conditions. The demand for tests that produce results in less than one day is the highest and the most common area of clinical interest is the infectious disease applications such as HAIs (hospital acquired infections). We offer a range of services to support the research that contributes towards the development of diagnostic products and testing services.
Hemoglobinopathies are one of the most common monogenic diseases worldwide affecting over 7% of the population. The term Hemoglobinopathy umbrellas all hemoglobin disorders which are divided into two groups Thalassemia Syndromes and Structural Haemoglobin variants,
Hemoglobinopathy diagnosis involves a red blood cell (RBC) count with erythrocyte indices, and a hemoglobin test (hemoglobin electrophoresis and/or chromatography)
Thalessimia Syndromes: To determine the genetic type of β-thalassemia major; molecular diagnosis of β-thalassemia intermedia; mixed forms of hemoglobinopathy; suspected silent β-thalassemia gene carriers; diagnosis of α-thalassemias; as part of genetic enquiries (families, partners, prenatal diagnosis).
Structural Haemoglobin variants: To identify rare abnormalities; for clarification in the absence of electrophoretic or chromatographic separation; as part of genetic enquiries (families, partners, prenatal diagnosis); mixed forms of more than one hemoglobinopathy.
Neuromuscular diseases cover a number of disorders either via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairing a muscle function. The diagnostic information should be interpreted within the context of family history, physical examination findings, laboratory data, pathological finding and molecular genetic findings. In a few cases, a precise diagnostic is not medically possible. The confirmation of such diagnosis allows early detection and subsequent medical counseling that help specific patients to undergo clinically important drug trials.
The diagnostic tests that are used to assess cognitive impairment in neurodegenerative diseases are based on established clinical criteria. Physicians need to have access to diagnostic tests, such as neurofunctional imaging, that allow higher specificity in clinical assessment.
Fragile X syndrome: Fragile-X-syndrome (FXS) is the most common type of inherited cognitive impairment. The clinical diagnosis of this syndrome is not possible because the dysmorphic features are subtle. However, molecular diagnosis can be carried out to confirm the carrier detection and prenatal diagnosis is also possible.
It is important that the diagnostic information that is revealed from routine tests provides information on history of bleeding, especially in cases where a family history is prominent.
Nonsyndromic hearing loss can be classified in several different ways. One method is by observing the condition’s pattern of inheritance which includes, autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX) or mitochondrial. These are further divided into multiple subtypes and numbered accordingly. Each of these types of hearing loss includes multiple subtypes.
One of the best practises to diagnose cystic fibrosis is neonatal screening. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing.
Diagnosing mitochondrial disorders can be challenging as it affects multiple organs in the body. MD occurs due to alteration of mitochondrial respiratory chain complex function resulting from a genetic mutation. These mutations occur in nuclear or mitochondrial genomes and maybe present only in a subset of cells. The most reliable way to diagnose mitochondrial disorder is to undergo genetic testing as various symptoms that don’t involve mitochondria have similar symptoms. The genetic tests often begin with analyzing the mitochondrial DNA and depending on the results the patient’s nucleus may need to be completely analyzed through whole exome sequencing.
Cytogenetic evaluations provide an overview of the genome and the ability to identify chromosomal abnormalities that are implicated in mental retardation, dysmorphic features, reproductive wastage, congenital malformations and infertility neoplastic diseases. These evaluations help in counselling and management of affected individuals and families. Cytogenetics plays a critical role in prognostic determinants in Prenatal Diagnosis in high-risk pregnancies help in detecting chromosomally abnormal foetuses.
One of the leading causes of infant morbidity and mortality around the world is Birth Defects. The majority of defects are non-syndromic in nature however, evidence supporting the hypothesis that they result from complex interactions of genetic, epigenetic, and lifestyle factors. Many new approaches are being employed to study nonsyndromic structural birth defects especially through rapid advances in genomic technologies, researchers can now study large portions of the genome at a lower cost. Next generation sequencing has helped in accessing SNPs to assess the entire exome, this is an approach that is uncovering rare but informative mutations associated with non-syndromic birth defects.
Trisomy and Monosomy are types of numerical chromosome abnormalities that can cause certain birth defects. Each person is normally born with 23 chromosome pairs in each cell i.e. one chromosome inherited from mother and one from the father. A numerical chromosome abnormality causes each cell to have 45 or 47 chromosomes.
Down Syndrome, Patau Syndrome and Edward’s syndrome are caused by Trisomy i.e. presence of an extra chromosome in each cell instead of the usual pair.
Turner Syndrome is a consequence of the absence of one chromosome in the pair of chromosomes in each cell. Thus, there are 45 chromosomes in each cell instead of 46.
Overgrowth syndromes comprises a diverse group of conditions with unique clinical, behavioural and molecular genetic features. Sotos syndrome and Beckwith-Wiedemann Syndrome are two classic genetic overgrowth syndromes.
A-T ( ataxia telangiectasia), FA ( Fanconi anaemia), BS (Bloom Syndrome) are a few chromosome instability syndromes that have been known for years. NBS (Nijmegen breakage syndrome) , ATLD (ataxia telangiectasia like disorder) have been identified recently. A-T, ATLD and NBS exhibit similar features that are a result of increased sensitivity towards IR (ionizing radiation). NBS and A-T also depict a predisposition to lymphoid tumor.
Technology Transfer Initiatives
We actively seek the Technology Transfer Process wherein we collaborate with the inventor and help them in reaching the commercialization of intellectual property. The process occurs in different stages, such as Disclosure, Evaluation, Protection, Marketing, Negotiation and License. We make the research available to the public through Licenses wherein certain rights in the technology are granted to the licensee under specific terms and conditions. We follow CSIR guidelines for licensing of Intellectual Property.
Under our Technology Transfer Initiative we support:
Entrepreneurship in Residence Programme: If you are a part of CCMB and you are interested in starting a business based on your research in CCMB, we are actively seeking proposals.