Dr. Somil Singhal’s Post

Are you living with SCD? Do you have a relative, or friend living with SCD? Current Research in the field is greatly promising, not only in the development of new therapies but offering hope for CURES that can be made available to many more people. Learn more about gene therapies and other sickle cell disease treatments: https://bit.ly/3sI8D9t #Geneandcelltherapies #SCDcures #Blooddisorders

Thyroid disease is a general term for a medical condition that keeps your thyroid from making the right amount of hormones. It can affect anyone — men, women, infants, teenagers and the elderly. It can be present at birth (typically hypothyroidism) and it can develop as you age (often after menopause in women). Molecular testing techniques for the diagnosis of indeterminate thyroid nodules are primarily based on either analysis of RNA-based gene expression or detection of somatic mutations #ThyroidCancerAwarenessMonth #medicalcondition #hypothyroidism #hyperthyroidism #MolecularTesting

September is Inherited Retinal Disease Awareness Month. There are currently 2 million+ people worldwide who are at risk of losing their eyesight due to an inherited retinal disease, and we’re aiming to raise awareness and bring hope to those who may be suffering. Kiora Pharmaceuticals’ KIO-301 is an innovative drug aiming to restore functional vision by making retinal ganglion cells light sensitive. KIO-301 is not a gene therapy, but a small molecule potentially capable of restoring lost vision in patients with inherited retinal diseases. Learn more about KIO-301 here: https://lnkd.in/eA9HQ6My #kiorapharmaceuticals #visionrestoration #retinaldiseases #innovativemedicine #sightloss #InheritedRetinalDiseaseAwarenessMonth

September is #NationalSickleCellAwarenessMonth! Sickle Cell Disease (SCD) is the most common inherited blood disorder in the U.S., disproportionately affecting Black and Latino communities. In late 2023, the FDA approved two groundbreaking gene therapies for SCD—Casgevy by Vertex and CRISPR Therapeutics, and Lyfgenia by bluebird bio—offering new hope for those living with this condition. While this is a huge step forward, there's still work to be done to make these treatments more affordable, less burdensome, and accessible for all. Learn more about these advancements: https://lnkd.in/gBE9jEFp #raiseawareness #yourCBHN #blackhealth #healthequity #jointhefight #healthcare

Today is World Parkinson's Day – a day dedicated to raising public awareness of, and supporting those affected by, Parkinson’s disease (PD). Parkinson's disease is the fastest growing and the second most prevalent neurological condition, affecting an estimated 10 million people worldwide. Despite significant advancements in treatment, there is still no known cure for the disease. Levodopa-induced dyskinesia (LID) is a prevalent and debilitating side effect of chronic levodopa treatment, the current gold-standard for managing PD motor symptoms. Around half of PD patients are affected by LID after 5 years of levodopa treatment and up to 90% after 10 years, with current treatment options providing only partial therapeutic benefit on LID.   We are developing BGT-PD, an investigational AAV2 gene therapy candidate for the treatment of LID in Parkinson’s disease. First preclinical data on our BGT-PD program will be presented at the upcoming American Society of Gene & Cell Therapy 27th Annual Meeting.    Learn more about BGT-PD here: https://lnkd.in/e2tZTHQm #WorldParkinsonsDay #ParkinsonsAwarenessMonth #ASGCT2024 #genetherapy #rarediseases #aav #NeurodegenerativeDisorders #advancedtherapies #Parkinsonsdisease 

On this Rare Disease Day, CYNBIOSE is proud of its role in the fight against rare and orphan diseases worldwide. Did you know that over 300 million people worldwide are affected by rare diseases? Despite their rarity, the impact on individuals and families is profound, often leading to significant challenges in diagnosis, treatment, and access to care. At CYNBIOSE, we are committed to advancing the field of rare diseases through our specific expertise in the preclinical assessment of gene therapy.  With groundbreaking advancements and collaborative efforts, we strive, alongside our partners and sponsors, to make a meaningful difference in the lives of those affected by rare diseases. 🌍💙 #RareDiseaseDay #RareDiseaseAwareness #preclinical #genetherapies

September is #NationalSickleCellAwarenessMonth! Did you know that Sickle Cell Disease affects about 100,000 people in the US, with more than 90% of them being African American? Sickle cell disease affects the hemoglobin in your red blood cells, causing them to turn sickle-shaped. This can lead to anemia, pain, infections, and serious complications. It's important to be aware of the symptoms and seek proper testing. But there's hope - new developments in gene therapy and drug treatments could greatly improve the quality of life for those living with this condition. Let's spread awareness and support those affected by sickle cell disease! #SickleCellAwareness #Healthcare #GeneTherapy #CommunitySupport

Did you know half of #raredisease patients are children? #Sanfilippo Syndrome is a rare and fatal disorder impacting children across the globe, and has a median life expectancy of just 15 years. For these children and their families, every step closer to a new treatment counts. That's why our member company Ultragenyx is hard at work developing a gene therapy for Sanfilippo patients – giving hope to families across the globe. Although rare disease patient populations are small, the cost and obstacles for drug development are large. As we recognize #RareDiseaseWeek, we must also recognize the importance of investing in rare disease R&D so companies like Ultragenyx can continue working towards a bright future for rare disease communities. #LifeScience #Healthcare #OneRareVoice

10,867 That’s how many known rare diseases there are in the world. Some, like Duchenne muscular dystrophy, affect thousands, while others affect ONE or two people. I want to take this Rare Disease Day (EURORDIS-Rare Diseases Europe & National Organization for Rare Disorders) to recognize the people who are rare and left out. But I also want to applaud the progress we’ve made with the Orphan Drug Act and gene therapy which has the ability to correct many of the genetic diseases out there. There’s also so many incredible organizations out there like CureDuchenne doing great work to change the outcome. Take this special Leap Day to inform yourself about rare diseases, help an organization that you love, or do something kind for a rare patient you know. We aren’t rare when we are together. #rarediseaseday2024 #cureduchenne #genetherapy

Cell and gene therapies are revolutionizing how clinicians treat previously intractable diseases such as cancers, blindness, and metabolic disorders. In this tech note, examine integration site analysis techniques that are a critical component of patient safety testing of these therapies: https://hubs.ly/Q02LmRR20 #ClinicalTrials #CellTherapy #GeneTherapy #PatientSafety