DR. JEFFREY DIMASCIO, DO

JACKSONVILLE, FL

Research Active
Internal Medicine - Hematology & Oncology NPI registered 21+ years 3 publications 1992 – 1995 NPI: 1679578595
Internal Medicine - Hematology & Oncology
Polymerase Chain ReactionPedigreeFundus OculiDNAMolecular Sequence DataMyopiaBase SequenceSyndromeCartilage DiseasesGene DeletionExonsDNA PrimersProcollagenCodon, TerminatorFrameshift Mutation

Practice Location

14546 OLD SAINT AUGUSTINE RD
JACKSONVILLE, FL 32258-5468

Phone: (904) 739-7779

What does JEFFREY DIMASCIO research?

Dr. DiMascia studies Stickler syndrome, a genetic condition that affects connective tissues, leading to symptoms primarily in the joints and eyes. His research involves identifying mutations in the COL2A1 gene, which is crucial for collagen production, a protein that helps maintain the structure of tissues. By understanding these mutations, Dr. DiMascia aims to improve diagnosis and treatment options for patients suffering from Stickler syndrome and related cartilage disorders.

Key findings

  • Identified a novel mutation in the COL2A1 gene that causes Stickler syndrome with a premature stop in protein production, enhancing understanding of the genetic causes.
  • Discovered two different mutations in the COL2A1 gene that lead to early stopping points in collagen production, suggesting their common role in Stickler syndrome, aiding in diagnosis.
  • Sequenced large portions of the COL2A1 gene from 42 individuals, finding 21 neutral sequence variations, which provides insights into the genetic factors behind cartilage-related diseases.

Frequently asked questions

Does Dr. DiMascia study Stickler syndrome?
Yes, Dr. DiMascia focuses his research on Stickler syndrome, particularly its genetic underpinnings.
What genetic mutations are linked to Stickler syndrome?
Dr. DiMascia has identified multiple mutations in the COL2A1 gene that lead to the condition, which are crucial for collagen production.
How does Dr. DiMascia's work help patients?
His research aids in improving diagnosis and treatment options for patients with Stickler syndrome by revealing important genetic information.
Is Dr. DiMascia's research relevant for families with genetic conditions?
Yes, families affected by Stickler syndrome and similar genetic disorders can benefit from his findings, which enhance understanding of these conditions.
What treatments has Dr. DiMascia researched?
While Dr. DiMascia's work primarily focuses on understanding the genetic causes of Stickler syndrome, this knowledge can lead to better treatment strategies in the future.

Publications in plain English

Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene.

1995

Archives of ophthalmology (Chicago, Ill. : 1960)

Ahmad NN, Dimascio J, Knowlton RG, Tasman WS

Plain English
This study looked at a specific genetic mutation in families with Stickler syndrome, a condition that affects connective tissues. Researchers found a new type of mutation in the COL2A1 gene that leads to a premature stop in protein production, which could cause the symptoms of the syndrome. This finding highlights that such mutations can occur outside the well-known regions of the gene, offering new insights into the genetic causes of Stickler syndrome. Who this helps: This helps patients with Stickler syndrome by improving understanding of the genetic factors involved.

PubMed

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

1993

American journal of human genetics

Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D +2 more

Plain English
Researchers studied a gene called COL2A1, which is linked to Stickler syndrome, a condition that affects the joints and eyes. They found that two different mutations in this gene both lead to early stopping points in the production of collagen, which is important for healthy tissues; one mutation was found in a person studied, while the other mutation was identified in a different group. This is important because it suggests that these types of mutations are a frequent cause of this condition, potentially helping in diagnosis and treatment. Who this helps: This helps patients with Stickler syndrome and their doctors.

PubMed

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.

1992

Human mutation

Williams CJ, Harrison DA, Hopkinson I, Baldwin CT, Ahmad NN +5 more

Plain English
This study focused on analyzing the COL2A1 gene, which is important for cartilage formation. Researchers sequenced large portions of this gene from 42 people and discovered 21 neutral variations in the gene's DNA sequence. This information is valuable because it can help researchers understand the genetic factors behind cartilage-related diseases. Who this helps: This benefits patients with cartilage diseases and their healthcare providers.

PubMed

Frequent Co-Authors

N N Ahmad R G Knowlton W S Tasman D M McDonald-McGinn E H Zackai D LaRossa D J Prockop C J Williams D A Harrison I Hopkinson

Physician data sourced from the NPPES NPI Registry . Publication data from PubMed . Plain-English summaries generated by AI. Not medical advice.