Deepti Kumar

Photo Credit: Wix What is Down Syndrome Down syndrome is the most common type of chromosomal condition diagnosed in the United States with about one in every 640 babies born with it. It occurs due to presence of an extra copy of chromosome 21 (Trisomy of chromosome 21), resulting in multiple complications. With improved medical care, life expectancy of people born with down syndrome has greatly increased between 1960 to 2007 from 10 years of age to 47 years of age. Down Syndrome symptoms...

Photo Credit: Wix Cystic fibrosis is an autosomal recessive disorder, causes by mutations in the CFTR gene. It affects approx. 105,000 people worldwide. Before CFTR modulators were developed to treat cystic fibrosis, patients with CF rarely survived beyond their 20’s. With the advent of these transformative therapies patients with CF live well into their 60’s and 70’s. While CFTR modulators offer hope to 90% of the patients, many still are unable to benefit. About 10% of patients have rare...

Photo credit: Wix What is Sickle Cell Disease Sickle cell Disease (SCD) is an inherited blood disorder where red blood cells (RBCs) become sickle shaped and clump together. This clumping blocks the flow of blood in the blood vessels, depriving the tissues and organs of oxygen-rich blood. What causes SCD? Sickle cell disease is caused when a person carries two defective copies of the beta-globin gene, also known as the HBB gene. This gene help RBCs produce hemoglobin A, a protein that...