Swapna Roopesh

SR

Postgraduate in Biomedical Genetics , Caretaker of Down Syndrome adult, Independent Healthcare Consultant and Head of Strategic Partnerships at Organization for Rare Diseases India, ORDI.

Location Bengaluru, India.

Activity

  • Swapna Roopesh replied to Miguel Angel Noriega Juárez
    Is the genetic diagnosis process similar for all rare diseases?

    @RoselineFavresse would a segregation analysis by testing the family members also help?

  • Swapna Roopesh made a comment
    Eva's story: "At that point, I felt that either I was an extremely unlucky person, or something was really wrong with me"

    Although Eva had multiple chemotherapy sessions and surgery in her early twenties,it did not deter her from moving forward in life. If anything, her mere focus in life allowed her to be distracted from the underlying illness; she didn't brood over it, atleast in the beginning.

    Medical science interventions improved her quality of life at the time when...

  • Swapna Roopesh made a comment
    Why is it important to have a diagnosis for a rare genetic disease?

    Firstly, the potential impact of diagnosis may also depend whether the diagnosis was rightly made or whether it was a misdiagnosis. I have seen genetic labs becoming so commercialized that the entire concept of proper diagnosis is ignored at many places. An accurate diagnosis can have a life-changing impact!

    Also the second issue that I have seen in my...

  • Swapna Roopesh replied to Carol Johnson-Hohol
    Why is it important to have a diagnosis for a rare genetic disease?

    @CarolJohnson-Hohol, I had a similar experience while going for Trisomy Screening. The constant guilt and confusion of what i would decide if the unborn child was a Down's. I was traumatized between being conscientious and being practical.

  • Swapna Roopesh made a comment
    Defining diagnosis

    Another barrier for genetic diagnosis is lack of awareness about genetic tests amongst many Clinicians.

  • Swapna Roopesh made a comment
    Other inheritance patterns

    Mitochondrial cytopathies are often pleiotropic , and the condition involves several organs. E.g , Pearson syndrome

  • Swapna Roopesh made a comment
    Monogenic disorders inheritance patterns

    Autosomal dominant: Osteogenesis imperfecta
    Autosomal recessive:: Ellis- van Creveld Syndrome. Canavan disease
    X-Linked,:: Hypercalciuric; Nephrolithiasis (Dent's Disease and Others); Simpson–Golabi

  • Swapna Roopesh replied to Gamal Akabani
    Monogenic disorders inheritance patterns

    @GamalAkabani sir, X inactivation is also called as Lyonisation

  • Swapna Roopesh replied to Nell Baker
    What is a rare disease?

    I can relate to it so much.. I have similar kind of experience while working as a special ed assistant tutor in special school

  • Swapna Roopesh made a comment
    Are some cancers considered as rare diseases?

    HCC, Hepatocellular Carcinoma is a rare form of liver cancer; although we do not have clarity on whether it has a genetic linkage. My father in law was diagnosed with HCC last year, and he underwent liver resection for the same. Surprising he had zero symptoms until he collapsed one fine day; turns out it was a ruptured HCC.

  • Swapna Roopesh replied to Swapna Roopesh
    Genetic inheritance: introduction and definitions

    Thanks @MagdaGranata for the clarification and the reference.

  • Swapna Roopesh made a comment
    Genetic inheritance: introduction and definitions

    To conclude, polymorphisms/mutations/variants are all synonyms in genetic sense. But their context changes depending on the impact caused on proteins, bodily functions? @MagdaGranata Did i get the gist right?

  • Swapna Roopesh made a comment
    Glossary for Course "Diagnosing Rare Diseases: from the Clinic to Research and back"

    Wow, Brilliant Glossary. Thanks for the pdf version. One can always use it for reference.

  • Swapna Roopesh made a comment
    What is the impact of rare diseases on patients?

    India has a Rare Disease Policy, NPTRD 2021. Those interested in more information on the current scenario with respect to Rare Disease policy may read these articles. The mentioned concerns were co- drafted by our patient advocacy group....

  • Swapna Roopesh made a comment
    What is a rare disease?

    I have heard of 'Achondroplasia' but not 'Achondrodysplasia' ? Will check in Orphanet too. Thanks

  • Swapna Roopesh made a comment
    What is a rare disease?

    I have very close friends, relatives, and PAG acquainted patients with Down Syndrome, Thalessemia, Heamophilia, Epidermolysis Bullosa, Myasthenia Gravis, Retinitis Pigmentosa, Alagille Syndrome, Multiple Sclerosis, Cerebral Palsy, Neurofibromatosis, Ataxia, Osteogenesis Imperfecta, Spinal Muscular Atrophy, Pompe Disease, Primary Immunodeficiency, Gaucher, ...

  • Swapna Roopesh made a comment
    Topics of the week

    In India, many are left undiagnosed or face delayed diagnosis due to the shaky pathway of Healthcare in Rare Disease. We are achieving minor milestones, and we have a long long way to go!

  • Swapna Roopesh made a comment
    Why this course?

    Hi. I am Swapna Roopesh from Bengaluru, India; As a postgraduate in Biomedical Genetics and guardian of a Down Syndrome adult , I have been extremely fortunate to be a recipient of diverse experience in Genetic Disorders from Early Interventions, Specialized Training, Psychosocial Patient and Family Perspectives to Patient Support Organizations. I currently...

  • Swapna Roopesh made a comment
    What is a rare disease?

    My journey with Rare Diseases started 15 years back; I have personally and professionally encountered many Rare Disease patients

  • Swapna Roopesh made a comment
    Learning with us

    Hi. I am Swapna Roopesh from India. I am keen in learning the course