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Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. … It’s very hard to obtain skeletal samples, such as from bone or cartilage, other than by invasive surgery. You can … in a specific receptor and characterized by abnormal bone growth in the head and face. We have a mouse model that …
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… gene transfer into murine and Rhesus peripheral blood or bone marrow repopulating cells primed in vivo with Stem Cell … Bodine, red blood cells, anemia, hematopoietic stem cells, bone marrow, epigenetics … David Bodine, red blood cells, …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate … receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with … … People who have achondroplasia have abnormal bone growth that causes the following clinical symptoms: …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… little or no apparent trauma. OI is also called "brittle bone disease." OI varies in severity from person to person, … This type of collagen is the most common protein in bone, skin and other tissues that provide structure and … form of the condition. People who have type I OI have bone fractures during childhood and adolescence often due to …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… the skeleton and connective tissue systems. These include bone overgrowth and loose joints (joint laxity). Individuals … Overgrowth of the ribs can cause the chest bone (sternum) to bend inward (pectus excavatum or funnel … Inherited Disorder, Connective Tissue, FBN1 Gene, Myopia, Bone Overgrowth, Joint Laxity, Scoliosis, Cardiovascular …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… the specific lipid to build up in the liver, spleen, bone marrow and nervous system interfering with normal … in part, by a low level of platelets (thrombocytopenia). Bone disease (bone pain and fractures). Other symptoms …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… disease.  Gene therapies use your own stem cells, while bone marrow transplants use the stem cells of a matched donor.  … nor alter the genes that you pass on to your children. … Bone marrow transplant In a bone marrow transplant , also …
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… whole tissues. If we apply those tools in sections of the bone marrow, surveying stem cells in the context of surrounding … at a molecular level, expanding patients’ options for the bone marrow donations needed for treatment. Dr. Bodine …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… of acute chest syndrome and need fewer blood transfusions. Bone Marrow Transplantation: The Only Cure: Currently the only cure for sickle cell disease is bone marrow transplantation. In this procedure a sick patient …