The department of Medical Genetics at Kasturba Medical College, 沙巴体育 has regular teaching and training programs for medical students, genetic counselors and Ph. D scholars in addition to continuing medical education programs.

The department strives to translate recent advances from research in the field of genetics to patient care. The department offers consultation services for patients and families with diverse genetic conditions and birth defects. It also offers the much-needed diagnostic services on its own and in collaboration with other laboratories in India and abroad. Patient care is further supported by genetic counseling on reproductive options and prenatal diagnosis.

The department has a strong focus on research, mostly on rare genetic disorders including disease-gene discovery using the state of the art sequencing technology.

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https://khmanipal.com/medical-genetics/

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a.?? Consulting

The recent advancement of research and knowledge in the field of medicine has led to the identification of the genetic basis of more and more diseases. The Genetics Clinic run by the Department of Medical Genetics at Kasturba Hospital - 沙巴体育 is one of the few centers in the country which provides specialized services to patients and families with genetic disorders. We are committed to providing the best possible care.

Our services include clinical evaluation, genomic testing, management and counseling of patients and families with genetic diseases. As some of these disorders have significant mortality and morbidity and do not have a curative treatment, we also offer prenatal diagnosis to such families. Provision for preconceptional counseling and carrier screening for couples with or without a prior history of genetic disorders in the family is also available. Our team of well-trained, dedicated clinical geneticists, scientists and genetic counselors strive to give accurate and complete information based on the latest scientific knowledge. We put in our best efforts to address the unmet needs and concerns of these patients and provide answers.

Some common genetic diseases seen in our clinic include thalassemia, sickle cell disease, spinal muscular atrophy, Duchenne muscular dystrophy and intellectual disability / developmental delay.

In addition, we provide diagnostic facilities for any rare disorder using the newer diagnostic technologies like microarray and next generation sequencing.

In our endeavor to provide comprehensive genetic services under a single roof, the Genetics Clinic here is supported by a well-equipped laboratory. In collaboration with local, national and international laboratories, we provide state of the art diagnostic facilities for almost all groups of genetic disorders. Patients have an opportunity to participate in ongoing research projects as well.

Consultants

Dr. Girisha K M

Dr. Anju Shukla

Dr. Dhanya Lakshmi N

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b.?? Services available

?I.? Clinical services

(Evaluation, Diagnosis, Counseling, Management and Prenatal Diagnosis)

o??? Malformation syndromes

o??? Chromosomal abnormalities (Down syndrome, Turner syndrome, Klinefelter syndrome etc.)

o??? Genetic anemia (Thalassemia, sickle cell disease, spherocytosis etc.)

o??? Intellectual disability/development delay

o??? Short stature

o??? Skeletal dysplasia

o??? Neurodegenerative disorders

o??? Myopathies and muscular dystrophies

o??? Inborn errors of metabolism including storage disorders

o??? Disorders of sexual differentiation (Ambiguous genitalia)

o??? Genetic bleeding disorders (hemophilia)

o??? Deafness

o??? Neural tube defects (anencephaly, meningomyelocele) and other congenital malformations

o??? Primary amenorrhea and hypogonadism

o??? Infertility

o??? Exposure to teratogens during pregnancy

o??? Familial cancers

o??? Any familial / genetic disorder

o??? Consanguinity

II.? Laboratory facilities

o?? Karyotyping from blood, tissues, chorionic villi, amniotic fluid and products of conception

o?? Quantitative fluorescent PCR (QF-PCR) for rapid detection of aneuploidy in prenatal samples

o?? Sanger sequencing for beta thalassemia, sickle cell anemia, achondroplasia, hypochondroplasia and many more single gene disorders

o?? MLPA for Duchenne muscular dystrophy, spinal muscular atrophy, common microdeletion syndromes

o?? TP-PCR for myotonic dystrophy, Huntington disease, Fragile X syndrome

o?? Biochemical testing for inborn errors of metabolism (TMS, GCMS, enzyme assays)

o?? Chromosomal / SNP microarray

o?? Next generation sequencing (whole exome sequencing / gene panel testing)

III.? Prenatal diagnosis and genetic counseling

o?? Aneuploidy screening test (Dual/triple/quadruple marker, non- invasive prenatal screening)

o?? Scanning for fetal malformations by ultrasound

o?? Chorionic villus sampling

o?? Amniocentesis

o?? Cordocentesis

IV.? Fetal autopsy

In case of stillbirths of unknown cause and fetuses terminated after ultrasonographic detection of malformations, detailed radiologic study and autopsy helps in providing a definitive diagnosis of the condition. This is useful in identifying the etiology in many cases and counseling the family about the recurrence of the same condition in next pregnancy and offering prenatal diagnosis. Fresh fetuses can be sent to us in saline. Otherwise, fetuses can be sent in 10% formalin (with 2-inch umbilical cord in saline).

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We have a broad network of national and international collaborations with clinicians and scientists. Our research activities are supported by adequate laboratory facilities within the campus, and we are constantly striving to employ new cutting-edge techniques both in research and diagnostics. The department has secured funding from various national and international agencies to carry out research on the molecular and cellular basis of genetic disorders. 沙巴体育 outcomes and findings from the department have been published in numerous high impact factor scientific journals of repute. We also engage with the larger scientific community in India and worldwide through hosting various academic activities, including scientific workshops, seminars and conferences that function not only as continuing medical education programs but allow us to bring together national and international experts to facilitate our scientific expertise and broaden the width of our understanding of genetic diseases.

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Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Kaur P, do Rosario MC, Hebbar M, Sharma S, Kausthubham N, Nair K, A S, Bhat Y R, Lewis LES, Nampoothiri S, Patil SJ, Suresh N, Bijarnia Mahay S, Dua Puri R, Pai S, Kaur A, Kc R, Kamath N, Bajaj S, Kumble A, Shetty R, Shenoy R, Kamate M, Shah H, Muranjan MN, Bl Y, Avabratha KS, Subramaniam G, Kadavigere R, Bielas S, Girisha KM, Shukla A. Clin Genet. 2021 Jul 24. doi: 10.1111/cge.14037. Online ahead of print.

PMID: 34302356

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2.????? Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. Upadhyai P, Radhakrishnan P, Guleria VS, Kausthubham N, Nayak SS, Superti-Furga A, Girisha KM. Hum Mutat. 2021 Aug;42(8):1005-1014. doi: 10.1002/humu.24235. Epub 2021 Jun 8. PMID: 34057271

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3.????? A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians. Kausthubham N, Shukla A, Gupta N, Bhavani GS, Kulshrestha S, Das Bhowmik A, Moirangthem A, Bijarnia-Mahay S, Kabra M, Puri RD, Mandal K, Verma IC, Bielas SL, Phadke SR, Dalal A, Girisha KM. Hum Mutat. 2021 Apr;42(4):e15-e61. doi: 10.1002/humu.24172. Epub 2021 Mar 1. PMID: 33502066

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4.????? Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. Nayak SS, Schneeberger PE, Patil SJ, Arun KM, Suresh PV, Kiran VS, Siddaiah S, Maiya S, Venkatachalagupta SK, Kausthubham N, Kortüm F, Rau I, Wey-Fabrizius A, Van Den Heuvel L, Meester J, Van Laer L, Shukla A, Loeys B, Girisha KM, Kutsche K. Sci Rep. 2021 Jan 12;11(1):764. doi: 10.1038/s41598-020-80755-7. PMID: 33436942.

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5.????? Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement. Kaur P, Kadavigere R, Girisha KM, Shukla A. Brain. 2020 Apr 1;143(4):e29. doi: 10.1093/brain/awaa046. PMID: 32125366.

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Address:

google map:?https://goo.gl/maps/cVGWoLxsejhyNJCP8

Email:?genetics.clinic@manipal.edu

Phone:? +91 820 2923149